Summer is almost here, and along with all the sun and fun, it&#8217;s important to remember how best to protect your skin.&nbsp;



So, for Skin Cancer Awareness Month, we&#8217;re offering some helpful information and suggestions because skin cancer is the <a href="https://www.cancer.org/content/dam/cancer-org/research/cancer-facts-and-statistics/annual-cancer-facts-and-figures/2024/2024-cancer-facts-and-figures-acs.pdf">most common</a> form of cancer; it&#8217;s also one of the most preventable.&nbsp;



<h2 class="wp-block-heading" id="h-skin-cancer-in-the-united-states">Skin Cancer in the United States</h2>



In the U.S. alone, an estimated 3.3 million people are diagnosed with basal cell or squamous cell cancers each year, according to the <a href="https://www.cancer.org/cancer/types/basal-and-squamous-cell-skin-cancer/about/key-statistics.html">American Cancer Society.</a> Melanoma makes up a small percentage of all skin cancers. Still, it is the most lethal, contributing to the vast majority of skin cancer-related deaths. These are three of the most common types of skin cancer.



Understanding your likelihood of developing one of these types of cancer and learning about what to look for goes a long way toward preventing them from developing. Sun exposure, either because you live in a sunnier climate or you spend a lot of time outdoors, plays a role.&nbsp;



We looked at where in the United States 23andMe customers who consented to participate in our research reported having been diagnosed with basal or squamous cell carcinomas.&nbsp;



<figure class="wp-block-image aligncenter size-full"><img loading="lazy" decoding="async" width="561" height="370" src="http://35.88.189.111/wp-content/uploads/2024/05/Percent-of-Customers-with-Either-BCC-or-SCC.jpg" alt="" class="wp-image-32916" srcset="https://blog.pub.us-west-2.prd.23andme.us/wp-content/uploads/2024/05/Percent-of-Customers-with-Either-BCC-or-SCC.jpg 561w, https://blog.pub.us-west-2.prd.23andme.us/wp-content/uploads/2024/05/Percent-of-Customers-with-Either-BCC-or-SCC-300x198.jpg 300w" sizes="auto, (max-width: 561px) 100vw, 561px" /></figure>



We do not have enough data to generate results for every state, but for the states we do have data, we see a higher prevalence of basal cell and squamous cancers in sunnier states. For instance, the highest prevalence is in Florida, Arizona, South Carolina, North Carolina, Alabama, and New Mexico. However, we also see a high prevalence in Delaware, which may be related to the age of the population there. The prevalence for both cancers increases with age, and Delaware has an aging population. We have not adjusted our data for age.



<h2 class="wp-block-heading" id="h-genetics-and-skin-cancer">Genetics and Skin Cancer</h2>



The likelihood of developing skin cancer is influenced not just by geography and sun exposure but also by a person&#8217;s ethnicity, lifestyle, and genetics. Skin cancer can develop in people of all ethnicities, but people of European descent with lighter skin tones have a much higher risk.&nbsp;



The lifetime risk for melanoma is about two percent for people of European descent but only about 0.1 percent among those of African descent. It&#8217;s a little more than half a percent for people of Latino or Hispanic descent.&nbsp;



<figure class="wp-block-image aligncenter size-large"><img loading="lazy" decoding="async" width="1024" height="538" src="http://35.88.189.111/wp-content/uploads/2024/05/protect-all-the-skin-sun-protection-1200x630-1-1024x538.webp" alt="" class="wp-image-32917" srcset="https://blog.pub.us-west-2.prd.23andme.us/wp-content/uploads/2024/05/protect-all-the-skin-sun-protection-1200x630-1-1024x538.webp 1024w, https://blog.pub.us-west-2.prd.23andme.us/wp-content/uploads/2024/05/protect-all-the-skin-sun-protection-1200x630-1-300x158.webp 300w, https://blog.pub.us-west-2.prd.23andme.us/wp-content/uploads/2024/05/protect-all-the-skin-sun-protection-1200x630-1-768x403.webp 768w, https://blog.pub.us-west-2.prd.23andme.us/wp-content/uploads/2024/05/protect-all-the-skin-sun-protection-1200x630-1-880x462.webp 880w, https://blog.pub.us-west-2.prd.23andme.us/wp-content/uploads/2024/05/protect-all-the-skin-sun-protection-1200x630-1-1180x620.webp 1180w, https://blog.pub.us-west-2.prd.23andme.us/wp-content/uploads/2024/05/protect-all-the-skin-sun-protection-1200x630-1.webp 1200w" sizes="auto, (max-width: 1024px) 100vw, 1024px" /></figure>



But people with darker skin are more likely to be diagnosed with melanoma at a later stage when it can be harder to treat. In addition, people with darker skin are much more likely to develop melanoma in parts of the body that get less sun, such as the palms of the hands, soles of the feet, beneath the fingernails, or even inside the mouth.



<div style="float: right; text-align: justified; width: 300px; background-color: #eee; padding: 15px; margin-left: 10px;">
The ABCDEs of melanoma
 
A: Asymmetry. Does one half look different than the other?
 
B: Border. Does it have an irregular edge?
 
C: Color. Does it have multiple colors? 
 
D: Diameter. Is it longer than 6mm across or about the diameter of a pencil eraser? 
 
E: Evolving. Is it changing over time? 

</div>



That&#8217;s why both prevention and skin self-exam are so important. Experts recommend knowing the <a href="https://www.aad.org/public/diseases/skin-cancer/find/at-risk/abcdes">ABCDEs of melanoma</a> (see sidebar) and performing a skin self-exam about once a month. It&#8217;s essential to monitor your skin and talk to a healthcare professional, like a dermatologist, if you notice any changes, including new or changed moles, bumps, or sores.



Early detection — often through self-exam and regular mole checks by a dermatologist — can also go a long way toward ensuring healthy outcomes. There&#8217;s another tool for assessing one&#8217;s risk, and that&#8217;s looking at your genetics.



<h2 class="wp-block-heading" id="h-23andme">23andMe+</h2>



As part of 23andMe+ Premium, members can access two reports to assess their genetic likelihood of developing one of these three common types of skin cancer.&nbsp;



<figure class="wp-block-image alignright size-large"><img loading="lazy" decoding="async" width="355" height="218" src="http://35.88.189.111/wp-content/uploads/2022/01/melanoma-story-1.ee0eb73ae029.svg" alt="" class="wp-image-29458"/></figure>



The service offers a Skin Cancer (Melanoma) report and a Skin Cancer (Basal and Squamous Cell Carcinomas) report. Both reports use polygenic risk scores (PRS) to assess a member&#8217;s likelihood of developing one of these cancers. These statistical models consider a person&#8217;s genetic ancestry and birth sex.&nbsp;



The reports also include some prevention tips. Some of these tips are obvious but also bear repeating. For instance, knowing that repeated sunburns substantially increase the risk is a reminder to use sunscreen and protect yourself from too much sun. However, research has also found that genetic factors and specific traits play a role.&nbsp;



Not long ago, using data from 23andMe customers who consented to participate in research, researchers from Indiana University found genetic variants associated with <a href="https://blog.23andme.com/23andme-research/new-genetic-research-on-skin-cancer/">squamous cell carcinomas</a>. A few years before, researchers at Stanford, also using 23andMe data, <a href="https://blog.23andme.com/articles/new-study-on-genetics-of-common-type-of-skin-cancer">found genetic variants associated</a> with <a href="https://www.oncotarget.com/article/15230/">the risk of melanoma</a>. Most recently, a team of researchers in Australia, with the help of 23andMe data, found more than 70 genetic variants associated with melanoma and identified correlations between melanoma and <a href="https://www.jidonline.org/article/S0022-202X(21)02513-6/fulltext#secsectitle0070">autoimmune diseases</a> such as psoriasis and rheumatoid arthritis.&nbsp;



<figure class="wp-block-image alignright size-large"><img loading="lazy" decoding="async" width="302" height="160" src="http://35.88.189.111/wp-content/uploads/2022/01/melanoma-story-4.d0a1c76c810e.svg" alt="" class="wp-image-29457"/></figure>



<h2 class="wp-block-heading" id="h-what-you-can-do">What You Can Do</h2>



Being vigilant, especially for new moles or discolored skin, and protecting your skin from the sun can all help lower the likelihood of developing skin cancer.



A self-examination is a little more challenging for areas like the back, so having a partner, doctor, or a dermatologist take a look is a good idea.



Everyone should be aware of the risk of skin cancer, but some individuals have more risk than others. Individuals with lighter skin, many moles, who sunburn easily, or who have a family history of skin cancer should be particularly vigilant.&nbsp;



Wearing sun protection (like &#8220;broad spectrum&#8221; sunscreen and protective clothing) outdoors is essential—even when it’s cloudy. Avoiding tanning beds is also important.&nbsp;



<h2 class="wp-block-heading" id="h-more">More</h2>



23andMe&#8217;s skin cancer reports are available to all annual 23andMe+ Premium Membership subscribers.&nbsp; Premium members can view your report <a href="https://you.23andme.com/reports/prs.skin_cancer_melanoma/">here</a> and <a href="https://you.23andme.com/reports/prs.skin_cancer_bcc_scc/">here</a>.&nbsp;



Are you still waiting to be a23andMe+ Premium member?



Find out more <a href="https://www.23andme.com/membership">here</a>.



<hr class="wp-block-separator has-alpha-channel-opacity"/>



<h2 class="wp-block-heading" id="h-faq">FAQ</h2>



<div class="schema-faq"><div class="schema-faq-section" id="faq-question-1715726714056">What is melanoma? Melanoma is a common and serious form of skin cancer that can originate from moles. Early detection offers the best chance for treatment, so it&#8217;s essential to get familiar with your moles to notice changes that could signal that a mole is becoming cancerous. Only about two percent of skin cancers are melanoma, but this aggressive form of cancer is responsible for most skin cancer deaths. Melanomas are more likely than other skin cancers to be lethal because they can spread locally or metastasize to different parts of the body. While ultraviolet radiation from sun exposure and skin characteristics like moles, freckles, or light skin tones are key factors in the risk for melanoma, genetic factors also play a role. Again, this is why early detection is so important so that they can be treated before cancer can spread. </div> <div class="schema-faq-section" id="faq-question-1715726734989">What is basal cell carcinoma? Basal cell carcinoma is very common. This form of cancer begins in basal cells found in the skin&#8217;s outer layer. The most common cause of basal cell carcinoma is too much exposure to ultraviolet (UV) light from the sun. This can happen even on a cloudy day or through a glass window. In addition, UV light exposure from tanning beds and sun lamps increases the risk. Basal cell carcinoma also most often occurs in areas of the skin that are most exposed, such as the face, head, and neck, but it can happen anywhere. For people with darker skin, squamous and basal cell carcinomas often appear more like a dark brown or black bump that might be glossy and have a rolled border. The first sign is typically a bump, growth, or sore that doesn&#8217;t heal. Basal cell carcinoma is very treatable and tends to grow slowly. </div> <div class="schema-faq-section" id="faq-question-1715726753850">What is squamous cell carcinoma? Like basal cell carcinoma, squamous cell carcinoma often occurs due to too much exposure to UV light from the sun or other sources like tanning beds or sun lamps. Like basal cell carcinoma, it most often occurs in areas of the skin that are most exposed, but squamous cell carcinoma is more likely to happen on the scalp, the backs of hands, ears, and lips. However, as with basal cell carcinoma, it can develop in other areas. For example, among people with darker skin, squamous cell carcinoma commonly appears on the legs and other areas that typically get less sun exposure. For people with darker skin, squamous and basal cell carcinomas often seem more like a dark brown or black bump that might be glossy and have a rolled border. The first sign is typically a bump, growth, or sore that doesn&#8217;t heal. Squamous carcinoma is very treatable and tends to grow slowly. </div> </div>



<hr class="wp-block-separator has-alpha-channel-opacity"/>

Understand Your Genetics Likelihood of Developing Skin Cancer

Skin cancer is the <a href="https://linkinghub.elsevier.com/retrieve/pii/S0749379714005108">most common</a> form of cancer, but it&#8217;s also one of the most preventable. 
Fortunately, knowing your risk along with protecting your skin from the sun can lower your chances of developing all three common forms. Early detection — often through self-exam and mole checks — can also go a long way toward ensuring healthy outcomes. 
In the U.S. alone, an estimated 3.3 million people are diagnosed with basal cell or squamous cell cancers each year, according to the American Cancer Society. Melanoma makes up a small percentage of all skin cancers, but it is the most lethal, contributing to the vast majority of skin cancer-related deaths, according to statistics from the <a href="https://www.cdc.gov/cancer/uscs/about/data-briefs/no9-melanoma-incidence-mortality-UnitedStates-2012-2016.htm">Centers for Disease Control and Prevention</a>.
<h6>23andMe+</h6>
As part of 23andMe+, members can now access two reports on these three common forms of skin cancer. These include a Skin Cancer (Melanoma) report, and a Skin Cancer (Basal and Squamous Cell Carcinomas) report. Both are powered by 23andMe Research.
The new reports use machine learning techniques to estimate a person&#8217;s likelihood of developing one of these forms of skin cancer. In the report on Skin Cancer (Basal and Squamous Cell Carcinomas), we make the estimate by using a statistical model that includes more than 11,000 genetic variants into account. For the report on Skin Cancer (Melanoma), the statistical model includes more than 1,800 genetic variants. The reports also take into account a person&#8217;s ethnicity and birth sex.
<h6>Skin Cancer Risk and Ethnicity</h6>
Because these types of skin cancers are so rare among certain ethnicities, we cannot provide genetic results for everyone at this time. In the cases of people of East and Southeast and South Asian descent, the likelihood of developing one of these cancers is so small that statistical models predicting these likelihoods based on genetics do not meet our scientific standards.
These models include customers’ results for thousands of genetic markers and are available for people of European, Latino, Northern African, Central and Western Asian as well as Sub-Saharan African descent. So, in the report on basal and squamous cell carcinomas, we are unable to provide a genetic likelihood for people of East and Southeast Asian and South Asian descent. In addition, in the report on melanoma, we are unable to provide a genetic likelihood for people of East Asian, Southeast Asian, South Asian, and African descent.  
While skin cancer can develop in people of all ethnicities, people of European descent have a much higher risk. The lifetime risk for melanoma is about two percent for people of European descent, but only about .1 percent among those of African descent. For people of Latino or Hispanic descent, it&#8217;s a little more than half a percent. But for people with darker skin, diagnosing melanoma often happens much later, resulting in potentially worse outcomes. In addition, people with darker skin are much more likely to develop melanoma in locations that get less sun, such as the palms of the hands, soles of the feet, beneath the fingernails, or even inside the mouth.
That&#8217;s what makes both prevention and skin self-exam so important. Experts recommend knowing the <a href="https://www.aad.org/public/diseases/skin-cancer/find/at-risk/abcdes">ABCDEs of melanoma</a> and performing a skin self-exam about once a month. It&#8217;s important to keep an eye on your skin and talk to a healthcare professional like a dermatologist if you notice any changes, including new or changed moles, bumps, or sores.
<h6>A Little Bit More About Skin Cancer</h6>
Basal and squamous cell carcinomas usually develop on areas of the skin that are more exposed to the sun, like the face and hands. The first sign might be a bump, growth, or a sore that doesn&#8217;t heal. For people with darker skin, these types of cancers often appear more like a dark brown or black bump that might be glossy and have a rolled border. Both are typically very treatable, tend to grow slowly, and often remain in the first layers of skin.
Melanomas are different and much more serious. While they can appear in much the same way, or develop from an existing mole, what happens below the skin&#8217;s surface is what makes them so dangerous.
That&#8217;s because melanomas are more likely than other skin cancers to spread locally or metastasize to other parts of the body. Again, this is why early detection is so important so that they can be treated before cancer can spread.
<h6>Research</h6>
In the case of skin cancer, we know that environmental factors, particularly sun exposure and repeated sunburns, increase the risk substantially. But research has found that genetic factors and specific traits also play a role.
23andMe has been involved in several research projects to create polygenic scores that would better estimate the likelihood of developing skin cancer. These <a href="https://blog.23andme.com/23andme-research/skin-cancer-risk-model/">statistical models</a> incorporate not just genetic variants but also family cancer history, skin pigmentation, sun exposure and body mass index, for instance. 
Not long ago, using data from consented 23andMe research participants, researchers from Indiana University found new genetic variants associated with <a href="https://blog.23andme.com/23andme-research/new-genetic-research-on-skin-cancer/">squamous cell carcinomas</a>. And a few years before, researchers at Stanford, also using 23andMe data, found new genetic variants associated with <a href="https://www.oncotarget.com/article/15230/">the risk of melanoma</a>. Most recently, a team of researchers in Australia, with the help of 23andMe data, found more than 70 genetic variants associated with melanoma and identified correlations between melanoma and <a href="https://www.jidonline.org/article/S0022-202X(21)02513-6/fulltext#secsectitle0070">autoimmune diseases</a> such as psoriasis and rheumatoid arthritis. 
<h6>Taking Action</h6>
Being vigilant especially for new moles or discolored skin, and protecting your skin from the sun, all can help lower the likelihood of developing skin cancer.
Self-exam is a little tougher for areas like your back so having a partner, your doctor, or a dermatologist take a look is a good idea.
Everyone should be aware of the risk for skin cancer,  but some individuals have more risk than others. Individuals with lighter-skin, or a lot of moles, or who sunburn easily, or who have a family history of skin cancer, should be particularly vigilant. 
Sun protection is important, but it&#8217;s also a good idea to avoid tanning beds. 
<h6>More</h6>
23andMe&#8217;s new skin cancer reports (powered by 23andMe research) are available to all annual subscribers to the 23andMe+ Membership.  To learn more about your report, go <a href="https://you.23andme.com/reports/prs.skin_cancer_melanoma/">here</a> and <a href="https://you.23andme.com/reports/prs.skin_cancer_bcc_scc/">here</a>. 
Not yet an annual subscriber to the 23andMe+ Membership?
Find out more <a href="https://www.23andme.com/membership">here</a>.

New 23andMe+ Reports on Skin Cancer

<figure class="wp-block-image alignright"><img loading="lazy" decoding="async" width="300" height="300" src="https://blog-api.23andme.com/wp-content/uploads/2017/03/sun-300x300.png" alt="" class="wp-image-25177" srcset="https://blog.pub.us-west-2.prd.23andme.us/wp-content/uploads/2017/03/sun-300x300.png 300w, https://blog.pub.us-west-2.prd.23andme.us/wp-content/uploads/2017/03/sun-150x150.png 150w, https://blog.pub.us-west-2.prd.23andme.us/wp-content/uploads/2017/03/sun-271x271.png 271w, https://blog.pub.us-west-2.prd.23andme.us/wp-content/uploads/2017/03/sun-372x372.png 372w, https://blog.pub.us-west-2.prd.23andme.us/wp-content/uploads/2017/03/sun-574x574.png 574w, https://blog.pub.us-west-2.prd.23andme.us/wp-content/uploads/2017/03/sun.png 600w" sizes="auto, (max-width: 300px) 100vw, 300px" /></figure>



A team of scientists at 23andMe created a new model to better estimate skin cancer risk, one of the most commonly diagnosed forms of cancer.



Details of the new model are included in a study published in <a href="https://www.nature.com/articles/s41467-020-20246-5">Nature Communications</a> today.



Using genetic and other data from more than 210,000 customers who consented to participate in the research, the 23andMe team created a model to calculate a risk score for the three forms of skin cancer. The model relied on more than 100 known genetic variants for skin cancers and dozens of non-genetic risk factors, including family cancer history, <a href="https://www.23andme.com/topics/traits/skin-pigmentation/">skin pigmentation</a>, and sun exposure.



According to the study&#8217;s lead author, Pierre Fontanillas, Ph.D., and a senior statistical geneticist at 23andMe, the new model could help detect skin cancer earlier. 



“There remains considerable room to improve the risk model by including additional data, especially from people of non-European ancestry,” said Pierre. “But we’ve shown the ability to use a risk model to potentially identify people with elevated risk for skin cancer who do not currently have identifiable symptoms.”<code></code><wp-block data-block="core/more"></wp-block>



<figure class="wp-block-image alignright wp-image-26632 size-medium"><img loading="lazy" decoding="async" width="199" height="300" src="https://blog-api.23andme.com/wp-content/uploads/2018/10/©Piter2016-23andMe-PierreFontanillas-033-copy-199x300.jpg" alt="" class="wp-image-26632" srcset="https://blog.pub.us-west-2.prd.23andme.us/wp-content/uploads/2018/10/©Piter2016-23andMe-PierreFontanillas-033-copy-199x300.jpg 199w, https://blog.pub.us-west-2.prd.23andme.us/wp-content/uploads/2018/10/©Piter2016-23andMe-PierreFontanillas-033-copy-768x1156.jpg 768w, https://blog.pub.us-west-2.prd.23andme.us/wp-content/uploads/2018/10/©Piter2016-23andMe-PierreFontanillas-033-copy-680x1024.jpg 680w, https://blog.pub.us-west-2.prd.23andme.us/wp-content/uploads/2018/10/©Piter2016-23andMe-PierreFontanillas-033-copy-585x880.jpg 585w, https://blog.pub.us-west-2.prd.23andme.us/wp-content/uploads/2018/10/©Piter2016-23andMe-PierreFontanillas-033-copy-784x1180.jpg 784w, https://blog.pub.us-west-2.prd.23andme.us/wp-content/uploads/2018/10/©Piter2016-23andMe-PierreFontanillas-033-copy-scaled.jpg 1701w" sizes="auto, (max-width: 199px) 100vw, 199px" /><figcaption class="wp-element-caption">23andMe Senior Statistical Geneticist Pierre Fontanillas, Ph.D.</figcaption></figure>



<h2 class="wp-block-heading" id="h-one-in-five">One in Five</h2>



Such early detection could have broad benefits. In the United States alone, one in five people is likely to develop skin cancer in their lifetime. Despite being preventable, more than 15,000 Americans die each year from one of the three major types of skin cancer — basal cell carcinoma, squamous cell carcinoma, and melanoma.



Using the new model they developed, the 23andMe scientists found the research participants in this study with the highest risk scores were up to 13 times more at risk of <a href="http://35.88.189.111/articles/new-23andme-report-on-skin-cancer">developing skin cancer.</a> The work doesn’t just offer the potential for identifying people with elevated risk for cancer. It also could help predict such things as the age of onset and the severity of cancer.



Early detection and treatment for skin cancer can go a long way in improving outcomes. Currently, early detection relies on regular full-body skin examinations. While inexpensive and non-invasive, there’s little evidence that it’s an effective method for detecting skin cancer in the general population. Developing a more accurate predictor for individual risk for cancer has been difficult.



<h2 class="wp-block-heading" id="h-new-tools">New Tools</h2>



Finding tools for better risk prediction and earlier detection offers hope for better outcomes.



“These scores rely on the long tail behavior of the genetic and non-genetic factors and potentially enable the identification of asymptomatic individuals with elevated skin cancer risk,” the scientists said in the paper.



Because this initial work included data primarily from customers with European ancestry, the researchers plan to expand the study to include data from individuals with non-European ancestry. Also, they hope to improve how they estimate sun exposure and refine the genetic risk score. According to the researchers, the goal is to develop risk estimates accurate enough to be used clinically and individually.



<h2 class="wp-block-heading" id="h-polygenic-risk-scores">Polygenic Risk Scores</h2>



Over the last several years, scientists have developed <a href="https://blog.23andme.com/articles/nilanjan-chatterjee">polygenic risk scores </a>that rely on large sets of genetic and non-genetic data to better calculate disease risk. 23andMe has used this kind of risk modeling for its <a href="https://www.23andme.com/topics/health-predispositions/type-2-diabetes/">Type 2 Diabetes Report (Powered by 23andMe research)</a>. The T2D report calculates a polygenic score based on more than 1000 genetic variants. The report also relied on data from more than 1.1 million 23andMe customers who consented to participate in the research. 



As more genetic data become available, polygenic risk models are increasingly being used to help calculate risk. Often, these models use many hundreds, or even thousands, of genetic variants to calculate risk. These new models can also include other factors — such as lifestyle and environmental influences — to offer a clearer picture of disease risk. Also, including data from more diverse populations can be used to predict risk in underrepresented populations better.



At this time, 23andMe does not offer a report on skin cancer.

A Better Way to Estimate Skin Cancer Risk

In the largest genetic study of its kind, researchers at Indiana University have identified new genetic associations with squamous cell skin cancer.<img loading="lazy" decoding="async" src="https://blog-api.23andme.com/wp-content/uploads/2017/03/discover_data-e1489600524787.png" alt="" class="size-full wp-image-25113 alignright" width="200" height="200" srcset="https://blog.pub.us-west-2.prd.23andme.us/wp-content/uploads/2017/03/discover_data-e1489600524787.png 200w, https://blog.pub.us-west-2.prd.23andme.us/wp-content/uploads/2017/03/discover_data-e1489600524787-150x150.png 150w" sizes="auto, (max-width: 200px) 100vw, 200px" />
The study, involving data from more than 680,000 individuals, including 20,000 people with squamous cell carcinoma, identified new genetic variants associated with the condition. 
The study was a meta-analysis, meaning it included data from many different studies, including data from about 280,000 23andMe customers who consented to participate in research.
<h6>Skin Pigmentation</h6>
While confirming previous findings that genes associated with skin pigmentation are associated with squamous cell cancers, the study also found some additional genes that are associated with cancer progression and immune response, among other things. 
The study identified eight new genetic variants associated with squamous cell cancer, bringing the total known variants associated with this type of non-melanoma skin cancer to 22.
&#8220;We can certainly say there is some genetic overlap between squamous cell carcinoma, basal cell carcinoma, and melanoma &#8212; the three major types of skin cancer &#8212; but we also found some genes that are specific for squamous cell carcinoma,&#8221;<a href="https://www.sciencedaily.com/releases/2020/02/200218182206.htm"> said Jiali Han</a>, Ph. D, the lead author of the paper, and a professor and researcher at Indiana University’s School of Medicine.
<h6>Non-Melanoma</h6>
Squamous cells and basal cells are also known as non-melanoma skin cancers. Both usually respond to treatment and rarely spread to other parts of the body, according to the National Cancer Institute. Melanoma is more aggressive, however, and can spread to other parts of the body if it&#8217;s not diagnosed early. Having fair skin, freckles, blue eyes, and brown hair are also risk factors for squamous cell skin cancer.
The research is published online in<a href="https://www.nature.com/articles/s41467-020-14594-5#Sec2"> Nature Communications</a>.
&nbsp;

New Genetic Research on Skin Cancer

<div id="attachment_26632" style="width: 209px" class="wp-caption alignright"><img loading="lazy" decoding="async" aria-describedby="caption-attachment-26632" src="https://blog-api.23andme.com/wp-content/uploads/2018/10/©Piter2016-23andMe-PierreFontanillas-033-copy-199x300.jpg" alt="" class="wp-image-26632 size-medium" width="199" height="300" srcset="https://blog.pub.us-west-2.prd.23andme.us/wp-content/uploads/2018/10/©Piter2016-23andMe-PierreFontanillas-033-copy-199x300.jpg 199w, https://blog.pub.us-west-2.prd.23andme.us/wp-content/uploads/2018/10/©Piter2016-23andMe-PierreFontanillas-033-copy-768x1156.jpg 768w, https://blog.pub.us-west-2.prd.23andme.us/wp-content/uploads/2018/10/©Piter2016-23andMe-PierreFontanillas-033-copy-680x1024.jpg 680w, https://blog.pub.us-west-2.prd.23andme.us/wp-content/uploads/2018/10/©Piter2016-23andMe-PierreFontanillas-033-copy-585x880.jpg 585w, https://blog.pub.us-west-2.prd.23andme.us/wp-content/uploads/2018/10/©Piter2016-23andMe-PierreFontanillas-033-copy-784x1180.jpg 784w, https://blog.pub.us-west-2.prd.23andme.us/wp-content/uploads/2018/10/©Piter2016-23andMe-PierreFontanillas-033-copy-scaled.jpg 1701w" sizes="auto, (max-width: 199px) 100vw, 199px" />Pierre Fontanillas, Ph.D., and a senior statistical geneticist at 23andMe</div>
We know that too much sun is bad for you, but a new statistical model that combines not just data on sun exposure but genetic and other kinds of data can better predict skin cancer risk, according to new research by 23andMe.
Pierre Fontanillas, Ph.D., and a senior statistical geneticist at 23andMe presented these new findings last week at the <a href="http://www.ashg.org/">American Society of Human Genetics</a>&#8216; annual meeting in San Diego.
“We aimed to validate previously known skin cancer risk factors, add detail to these and explore potential new ones, and find out whether and how these factors might interact with genetic risk,” Pierre said.
Using genetic and phenotypic data from more than 210,000 23andMe customers who consented to participate in research, the team created a statistical model that used a genetic risk score incorporating not just 150 genetic variants associated with three forms of skin cancer, but also other data on such things as family cancer history, <a href="https://www.23andme.com/topics/traits/skin-pigmentation/">skin pigmentation</a>, and sun exposure.
The model offered much stronger risk estimates for all three forms of skin cancer than genetic factors alone.
Because this initial work included data primarily from customers with European ancestry, the researchers plan to expand the study to include data from individuals with non-European ancestry. Also, they hope to improve how they estimate sun exposure and further refine the genetic risk score. The goal is to develop risk estimates accurate enough to be used clinically and at an individual level, according to the researchers.
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<h6>23andMe at ASHG</h6>
Among the nine thousand people who converged on San Diego for the annual meeting of the American Society of Human Genetics, were more than 50 scientists and researchers from 23andMe.
In addition to two presentations, one on skin cancer by Pierre Fontanillas, Ph.D., (see post), and another on uniparental disomy done by former 23andMe intern, Priyanka Nakka, Ph.D., 23andMe had more than a dozen presentations on wide variety of findings around mosquito attractiveness and bite response, the genetic architecture of BMI, as well as genetic association for sleep apnea.
You can see more details on all of our posters and presentations <a href="https://research.23andme.com/publications/#conference">here</a>.
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A Better Way to Predict Skin Cancer Risk

This week, thousands of people will flock to San Diego for one of the most important conferences of the year. No, not Comic-Con — it’s the annual meeting of the American Society of Human Genetics, the flagship conference for scientists who study the human genome.  <img loading="lazy" decoding="async" class="aligncenter wp-image-25534 size-full" src="http://35.88.189.111/wp-content/uploads/2017/06/23andMe_Logo-1-e1521068586138.jpg" alt="An image of 23andMe's logo" width="800" height="528" srcset="https://blog.pub.us-west-2.prd.23andme.us/wp-content/uploads/2017/06/23andMe_Logo-1-e1521068586138.jpg 800w, https://blog.pub.us-west-2.prd.23andme.us/wp-content/uploads/2017/06/23andMe_Logo-1-e1521068586138-300x198.jpg 300w, https://blog.pub.us-west-2.prd.23andme.us/wp-content/uploads/2017/06/23andMe_Logo-1-e1521068586138-768x507.jpg 768w" sizes="auto, (max-width: 800px) 100vw, 800px" />
Participants can look forward to five days of seminars, panel discussions, and workshops on a wide range of topics, from risk models and population genetics, to ethics and education. This year’s main “Presidential Symposium” will feature a panel of experts discussing the latest advances in African genomics research and what our understanding of human origins can teach us about genetic variation in modern human populations. And when scientists are ready to unwind, they can look forward to a special performance by NIH Director <a href="https://www.nih.gov/about-nih/who-we-are/nih-director/biographical-sketch-francis-s-collins-md-phd">Francis Collins</a>’s band Ethidium Spill.
More than 50 members of 23andMe’s Research, Therapeutics, and Product Science teams will be joining the genetics extravaganza. In addition to presenting <a href="https://research.23andme.com/publications/">our latest genetics research</a>, we’ll be answering all of your questions at booth #1225 about <a href="https://www.23andme.com/careers/">working for</a> and <a href="https://research.23andme.com/collaborate/">collaborating with</a> 23andMe (Did you know we have <a href="https://research.23andme.com/populations-collaborations/">a program that provides </a>support to researchers genotyping underrepresented populations? We recently selected researchers working in Ethiopia, Madagascar, and South Africa). At the booth, you can also receive a free copy of our children’s book <a href="https://www.amazon.com/You-Share-Genes-23andMe-Inc/dp/0989153703">You Share Genes With Me</a> or buy a discounted 23andMe kit. For those who can’t attend, we’ll be <a href="https://twitter.com/23andmeresearch">live-tweeting</a> at the meeting to provide a sneak peek of the action.
But of course, the most important part of ASHG is scientists coming together to learn about cutting edge genetics research. Below is a list of 23andMe’s scientific presentations at ASHG:<img loading="lazy" decoding="async" class="aligncenter wp-image-26615 size-full" src="http://35.88.189.111/wp-content/uploads/2018/10/J_Ashenhurst_ASHG18_final-scaled.jpg" alt="A poster showing the polygenic risk scores for self-reported mosquito attraction and bite response." width="1978" height="2560" srcset="https://blog.pub.us-west-2.prd.23andme.us/wp-content/uploads/2018/10/J_Ashenhurst_ASHG18_final-scaled.jpg 1978w, https://blog.pub.us-west-2.prd.23andme.us/wp-content/uploads/2018/10/J_Ashenhurst_ASHG18_final-232x300.jpg 232w, https://blog.pub.us-west-2.prd.23andme.us/wp-content/uploads/2018/10/J_Ashenhurst_ASHG18_final-768x994.jpg 768w, https://blog.pub.us-west-2.prd.23andme.us/wp-content/uploads/2018/10/J_Ashenhurst_ASHG18_final-791x1024.jpg 791w, https://blog.pub.us-west-2.prd.23andme.us/wp-content/uploads/2018/10/J_Ashenhurst_ASHG18_final-680x880.jpg 680w, https://blog.pub.us-west-2.prd.23andme.us/wp-content/uploads/2018/10/J_Ashenhurst_ASHG18_final-912x1180.jpg 912w" sizes="auto, (max-width: 1978px) 100vw, 1978px" />
<h6>Talks</h6>
<a href="https://ativsoftware.com/appinfo.php?page=Session&amp;project=ASHG18&amp;id=104002&amp;server=eventpilot.us">Incidence of uniparental disomy in 2 million individuals from the 23andMe database</a>
<ul>
<li>Priyanka Nakka, PhD, 23andMe intern, Brown University</li>
<li>Tuesday, Oct 16, 5:50pm &#8211; 6:10pm</li>
<li>Hall C &#8211; Ground Level</li>
</ul>
<a href="https://ativsoftware.com/appinfo.php?page=Session&amp;project=ASHG18&amp;id=107002&amp;server=eventpilot.us">Combining genetic and exposure data significantly improves risk prediction for skin cancer</a>
<ul>
<li>Pierre Fontanillas, PhD, Senior Scientist I, Statistical Genetics</li>
<li>Wednesday, Oct 17, 9:15am &#8211; 9:30am</li>
<li>Ballroom 20BC &#8211; Upper Level</li>
</ul>
<h6>Posters<img loading="lazy" decoding="async" class="aligncenter wp-image-26614 size-full" src="http://35.88.189.111/wp-content/uploads/2018/10/Populations.jpg" alt="A poster showing the ongoing initiative to increase the diversity of 23andMe's research populations." width="1024" height="1334" srcset="https://blog.pub.us-west-2.prd.23andme.us/wp-content/uploads/2018/10/Populations.jpg 1024w, https://blog.pub.us-west-2.prd.23andme.us/wp-content/uploads/2018/10/Populations-230x300.jpg 230w, https://blog.pub.us-west-2.prd.23andme.us/wp-content/uploads/2018/10/Populations-768x1001.jpg 768w, https://blog.pub.us-west-2.prd.23andme.us/wp-content/uploads/2018/10/Populations-786x1024.jpg 786w, https://blog.pub.us-west-2.prd.23andme.us/wp-content/uploads/2018/10/Populations-676x880.jpg 676w, https://blog.pub.us-west-2.prd.23andme.us/wp-content/uploads/2018/10/Populations-906x1180.jpg 906w" sizes="auto, (max-width: 1024px) 100vw, 1024px" /></h6>
All posters can be found in the Exhibit Hall on Ground Level of the San Diego Convention Center.
<h6>Wednesday, Oct 17</h6>
<a href="https://ativsoftware.com/appinfo.php?page=Session&amp;project=ASHG18&amp;id=10305139&amp;server=eventpilot.us">Updating an efficient pipeline for local ancestry inference</a>
<ul>
<li>Ethan Jewett, PhD, Scientist I, Population Genetics</li>
<li>2:00pm &#8211; 3:00pm</li>
<li>Poster #1479</li>
</ul>
<a href="https://ativsoftware.com/appinfo.php?page=Session&amp;project=ASHG18&amp;id=10303249&amp;server=eventpilot.us">Prioritizing variants and reducing false positive associations in GWAS</a>
<ul>
<li>Keng-Han Lin, PhD, Scientist I, Statistical Genetics</li>
<li>3:00pm &#8211; 4:00pm</li>
<li>Poster #3498</li>
</ul>
<a href="https://ativsoftware.com/appinfo.php?page=Session&amp;project=ASHG18&amp;id=10304048&amp;server=eventpilot.us">An initiative for genetic data collection from underrepresented countries and populations</a>
<ul>
<li>Kimberly McManus, PhD, Scientist I, Population Genetics</li>
<li>3:00pm &#8211; 4:00pm</li>
<li>Poster #2712</li>
</ul>
<h6>Thursday, Oct 18</h6>
<a href="https://ativsoftware.com/appinfo.php?page=Session&amp;project=ASHG18&amp;id=20303298&amp;server=eventpilot.us">Controls: How large is too large? A survey of methods for optimal subsampling in large-scale case-control studies</a>
<ul>
<li>Yunxuan Jiang, PhD, Scientist I, Statistical Genetics</li>
<li>2:00pm &#8211; 3:00pm</li>
<li>Poster #3547</li>
</ul>
<a href="https://ativsoftware.com/appinfo.php?page=Session&amp;project=ASHG18&amp;id=20302464&amp;server=eventpilot.us">Accurate prediction of multiple pigmentation phenotypes</a>
<ul>
<li>Babak Alipanahi, PhD, Senior Scientist I, Computational Biology</li>
<li>3:00pm &#8211; 4:00pm</li>
<li>Poster #2578</li>
</ul>
<a href="https://ativsoftware.com/appinfo.php?page=Session&amp;project=ASHG18&amp;id=20303283&amp;server=eventpilot.us">A survey of integrating age-at-onset genetics for predicting the age-specific disease risk</a>
<ul>
<li>Chao Tian, PhD, Senior Scientist I, Statistical Genetics</li>
<li>3:00pm &#8211; 4:00pm</li>
<li>Poster #3532</li>
</ul>
<h6>Friday, Oct 19</h6>
<a href="https://ativsoftware.com/appinfo.php?page=Session&amp;project=ASHG18&amp;id=30302465&amp;server=eventpilot.us">Itchy and scratchy: Polygenic risk scores predict self-reported mosquito attraction and bite response</a>
<ul>
<li>James Ashenhurst, PhD, Product Scientist II</li>
<li>2:00pm &#8211; 3:00pm</li>
<li>Poster #2579</li>
</ul>
<a href="https://ativsoftware.com/appinfo.php?page=Session&amp;project=ASHG18&amp;id=30304083&amp;server=eventpilot.us">Initiatives to increase the diversity of populations represented in genetics research</a>
<ul>
<li>Anjali Shastri, PhD, Research Project Manager</li>
<li>2:00pm &#8211; 3:00pm</li>
<li>Poster #2747</li>
</ul>
<a href="https://ativsoftware.com/appinfo.php?page=Session&amp;project=ASHG18&amp;id=30302021&amp;server=eventpilot.us">Deconstructing the genetic architectures of BMI and eating behavior phenotypes</a>
<ul>
<li>Janie Shelton, PhD, Scientist II, Data Collection</li>
<li>2:00pm &#8211; 3:00pm</li>
<li>Poster #2135</li>
</ul>
<a href="https://ativsoftware.com/appinfo.php?page=Session&amp;project=ASHG18&amp;id=30312086&amp;server=eventpilot.us">Direct-to-consumer genetic testing for factor V Leiden and prothrombin 20210G&gt;A: the consumer experience</a>
<ul>
<li>Sarah Elson, PhD, Senior Scientist I, Program Management</li>
<li>3:00pm &#8211; 4:00pm</li>
<li>Poster #626</li>
</ul>
<a href="https://ativsoftware.com/appinfo.php?page=Session&amp;project=ASHG18&amp;id=30303173&amp;server=eventpilot.us">Genetic associations with sleep apnea in a European population</a>
<ul>
<li>Yunru Huang, PhD, Scientist I, Biostatistics</li>
<li>3:00pm &#8211; 4:00pm</li>
<li>Poster #3422</li>
</ul>
<a href="https://ativsoftware.com/appinfo.php?page=Session&amp;project=ASHG18&amp;id=30302408&amp;server=eventpilot.us">Opsin gene probes accurately predict red-green color vision deficiencies derived from a web-based Ishihara plate color perception test</a>
<ul>
<li>Michael Multhaup, PhD, Senior Product Scientist I</li>
<li>3:00pm &#8211; 4:00pm</li>
<li>Poster #2522</li>
</ul>
<a href="https://ativsoftware.com/appinfo.php?page=Session&amp;project=ASHG18&amp;id=30303269&amp;server=eventpilot.us">Finding rare variants of large effect using identity-by-descent mapping</a>
<ul>
<li>Suyash Shringarpure, PhD, Senior Scientist I, Statistical Genetics</li>
<li>3:00pm &#8211; 4:00pm</li>
<li>Poster #3518</li>
</ul>
If you’d like to learn more about 23andMe’s research initiatives, stop by booth #1225 or visit <a href="https://research.23andme.com/">research.23andme.com</a>.

23andMe at ASHG 2018

For years, there was an assumption that people with the condition <a href="https://ghr.nlm.nih.gov/condition/vitiligo">vitiligo</a> had increased risk for skin cancer because this autoimmune disease resulted in the loss of melanin, which helps to filter out cancer-causing ultraviolet radiation from the sun.
But it turns out that while lighter skinned people are more prone to skin cancer, losing melanin due to vitiligo doesn’t make you more prone to skin cancers. Surprisingly, studies have shown that having vitiligo is actually associated with a reduced risk for some skin cancers.
Scientists want to know why.
A<a href="https://www.sciencedirect.com/science/article/pii/S0022202X18317494"> new study</a> by researchers at Indiana University, Stanford University, Duke University and the University of Texas at Houston, offers some new insight into this perplexing puzzle. The study included data about 290,000 23andMe customers who consented to participate in research as well as data from another 2,800 individuals from the MD Anderson Cancer Center.
“It’s interesting to find genes that increase the risk of vitiligo decrease the risk for melanoma, the most deadly form of skin cancer, and vice-versa. It provides an important clue to this question.” said lead author of this paper, Wenting Wu, PhD, Assistant Research Professor of Department of Medical and Molecular Genetics at Indiana University School of Medicine.
<img loading="lazy" decoding="async" src="https://blog-api.23andme.com/wp-content/uploads/2018/05/vitiligo-Image-1024x685.jpg" alt="" class="aligncenter wp-image-26209 size-large" width="1024" height="685" srcset="https://blog.pub.us-west-2.prd.23andme.us/wp-content/uploads/2018/05/vitiligo-Image-1024x685.jpg 1024w, https://blog.pub.us-west-2.prd.23andme.us/wp-content/uploads/2018/05/vitiligo-Image-300x201.jpg 300w, https://blog.pub.us-west-2.prd.23andme.us/wp-content/uploads/2018/05/vitiligo-Image-768x514.jpg 768w, https://blog.pub.us-west-2.prd.23andme.us/wp-content/uploads/2018/05/vitiligo-Image-880x589.jpg 880w, https://blog.pub.us-west-2.prd.23andme.us/wp-content/uploads/2018/05/vitiligo-Image-1180x790.jpg 1180w, https://blog.pub.us-west-2.prd.23andme.us/wp-content/uploads/2018/05/vitiligo-Image.jpg 1252w" sizes="auto, (max-width: 1024px) 100vw, 1024px" />
Vitiligo causes the loss of pigmentation-producing cells called melanocytes, and that in turn leads to the development of patches of milky white areas on the skin. It can sometimes appear only on isolated areas of the body, one side of the body, or the entire body. The late pop star Michael Jackson is probably one of the most famous persons to have the condition, which usually starts on sun-exposed areas first like the hands, arms, and face. Typically it emerges between the ages of 10 and 30, and the condition is sometimes associated with other autoimmune conditions such as psoriasis, rheumatoid arthritis, and thyroid disease.
For this study, researchers compared known genetic associations for vitiligo to genetic associations with a risk for melanoma. The researchers were able to first confirm an inverse relationship between the risks for vitiligo and skin cancer, and then they identified genetic variants in four genes that play a role in pigmentation or immune response. It is interesting to find that immune-related SNPs, which encode important immunoregulative proteins, showed consistent inverse relationships between vitiligo and skin cancers.
“Overall, the inverse relationship might indicate that different or opposed biological pathways mediate vitiligo and skin cancer, or vitiligo might lead to enhanced immune activity against both melanoma and non-melanoma skin cancer,” said corresponding author of this paper, Jiali Han, PhD, a professor and chair of Department of Epidemiology at Richard M. Fairbanks School of Public Health at IUPUI, and Rachel Cecile Efroymson Professor of Cancer Research at Indiana University Melvin and Bren Simon Cancer Center.
The full study can be found in<a href="https://www.sciencedirect.com/science/article/pii/S0022202X18317494?via%3Dihub"> The Journal of Investigative Dermatology</a>.

Study digs into why loss of skin pigmentation from vitiligo also reduces skin cancer risk

New research by scientists at<a href="https://med.stanford.edu/"> Stanford University School of Medicine</a> and 23andMe sheds more light on the genetics of melanoma, the deadliest form of skin cancer.<img loading="lazy" decoding="async" class="alignright size-thumbnail wp-image-6638" src="https://blog-api.23andme.com/wp-content/uploads/2010/06/freckles_moles-200x200.jpg" alt="freckles_moles" width="200" height="200" />


Published today in the journal <a href="http://www.impactjournals.com/oncotarget/index.php?journal=oncotarget&#038;page=article&#038;op=view&#038;path%5b%5d=15230">Oncotarget</a>, this genome wide association study quickly replicated 21 genetic variants associated with melanoma that were identified from seven other studies. In addition to replicating those variants, the study found one novel variant near a gene region known as BASP1 which could be protective against melanoma. The researchers found that in individuals with this form of cancer, the expression of BASP1 was suppressed, conferring an almost two-fold increased risk.


“This implicates a potential tumor-suppressive role for BASP1 in melanoma,” the researchers said.
Taken together the findings confirm an association between melanoma and genes involved with pigmentation, tumor suppression, the maintenance of telomere length, the formation of moles, as well as DNA repair.
Skin cancer is the most common form of cancer. There are three main types — basal cell carcinoma, squamous cell carcinoma, and melanoma. Basal cell carcinoma is the most common of the three and affects more than<a href="http://www.skincancer.org/skin-cancer-information/basal-cell-carcinoma"> four million people</a> annually in the United States. It is rarely life threatening. Squamous cell carcinoma affects more than<a href="http://www.skincancer.org/skin-cancer-information/squamous-cell-carcinoma"> one million people</a>.  While melanoma is the rarest of the three — accounting for only about one percent of all skin cancers — it leads to the majority of skin cancer deaths each year.
This research on melanoma follows fast on the heels of two other skin cancer studies completed last year by the same group of scientists,  one of which was the largest–to-date on the most common form of skin cancer, basal cell carcinoma. All of these studies used data contributed by 23andMe customers who consented to participate in research.
In<a href="https://www.nature.com/articles/ncomms12510"> that study</a> researchers identified 31 genetic variants associated with that form of skin cancer. Fourteen of those variants were new associations.
The scientists also conducted<a href="https://www.nature.com/articles/ncomms12048"> a study</a> that looked at cutaneous squamous cell cancer, which was one of the first genome-wide association studies ever done on that form of skin cancer. They found 11 genetic variants associated with cutaneous squamous cell cancer — four of those have never been seen before.
In each of these studies the researchers used a similar two-stage process, one for discovery and the other to confirm the findings. The scientists first conducted a large genome-wide association study using data from 23andMe customers who consented to participate in research. This included both individuals who reported having the type of cancer being studied, as well as others without the condition who were used as controls. In the second state, a confirmatory genome-wide association study was performed using data from another source.
In the case of the study on <a href="http://www.impactjournals.com/oncotarget/index.php?journal=oncotarget&#038;page=article&#038;op=view&#038;path%5b%5d=15230">melanoma</a>, the researchers used more than 290,000 23andMe customers who consented to research. More than 4,800 of those reported that they’d been diagnosed with melanoma. In the second stage of the study, the confirmatory stage, the researchers used data from a group of more than 2,000 patients involved in a study done by MD Anderson Cancer Center, more than half had melanoma.
Beyond the findings from this study on melanoma, the researchers singled out the power of 23andMe’s research model.
“This two-stage (genome wide association study) validates the use of consumer self-reported data as a platform for discovery of new cancer-related genes,” the researchers said.


The paper appears in the journal <a href="http://www.impactjournals.com/oncotarget/index.php?journal=oncotarget&#038;page=article&#038;op=view&#038;path%5b%5d=15230">Oncotarget</a>.

New genetic variant found to influence skin cancer risk

With summer upon us many are hitting the beach or pool and taking in some rays. Of course we&#8217;re also slathering <img loading="lazy" decoding="async" class="alignright size-medium wp-image-24157" src="https://blog-api.23andme.com/wp-content/uploads/2016/07/Sun-262x300.jpg" alt="Sun" width="262" height="300" srcset="https://blog.pub.us-west-2.prd.23andme.us/wp-content/uploads/2016/07/Sun-262x300.jpg 262w, https://blog.pub.us-west-2.prd.23andme.us/wp-content/uploads/2016/07/Sun.jpg 508w" sizes="auto, (max-width: 262px) 100vw, 262px" />on sunscreen, since with sun exposure comes risk for skin cancer.


In the largest-to-date study of the most common form of skin cancer, basal cell carcinoma,  researchers at Stanford University School of Medicine identified 31 genetic associations for the disease, 14 of which were identified for the first time.

<h6>Types of Skin Cancer</h6>

Skin cancer is the most common type of cancer and there are three main types – basal cell carcinoma, squamous cell carcinoma, and melanoma, all named after the affected cell types. Basal cell carcinoma, the most common, affects more than <a href="http://www.skincancer.org/skin-cancer-information/basal-cell-carcinoma">four million people</a> annually in the United States alone – and although it can be disfiguring it is rarely life-threatening.
Squamous cell carcinoma  affects more than <a href="http://www.skincancer.org/skin-cancer-information/squamous-cell-carcinoma">one million people</a> annually and leads to about nine thousand deaths each in year in the United States. Melanoma is extremely rare, but it is also deadly.

<h5>Basal Cell Study</h5>
The new basal cell study follows <a href="https://blog.23andme.com/23andme-research/new-genetic-associations-found-for-one-of-the-most-common-skin-cancers/">another recent study</a> by the same group at Stanford that focused on squamous cell carcinoma. Both studies were carried out in a similar two stage fashion. In collaboration with 23andMe, scientists first conducted a large genome-wide association study using 23andMe customers who consented to participate in research and had reported having either basal cell carcinoma or squamous cell carcinoma. Then, a confirmatory genome-wide association study was performed using data from a different cohort of research participants, either from the Nurses’ Health Study or the Health Professionals Follow-Up Study.


Roughly 17,000 cases and nearly 290,000 controls were included in the new basal cell study. The researchers confirmed 17 previously reported genetic associations and identified 14 novel susceptibility regions. Some of the genetic associations are with genes or gene regions thought to regulate skin cells. Other regions are involved in maintaining telomeres – the ends of chromosomes that either become too long or too short in many cancers – regulating the immune system, and tumor progression.
<h6>Other Factors</h6>
The 31 genetic associations identified in this study are estimated to explain almost 11 percent of the familial relative risk for basal cell carcinoma.
Interestingly, many of the regions associated with basal cell carcinoma appeared to exert a bigger effect in younger individuals, which suggested that environmental factors for basal cell carcinoma might become more influential with age. When the scientists tested for interactions between the genetic markers and UV exposure, hair color, number of sunburns, and tanning ability, they found a significant interaction between a genetic marker in a gene called LPP and hair color, specifically light brown and dark brown/black hair groups.
This finding suggests that the LPP marker is exerting a bigger effect on risk for basal cell carcinoma in people with brown or black hair.
Overall, the new basal cell carcinoma study expands our knowledge of the genetic factors that contribute to the most common form of skin cancer. Understanding what drives cancer, both the genetic and environmental factors, and the combination of the two, will ultimately help researchers predict who is at risk, make diagnoses quicker, and develop more precise treatments.


The study appeared in the journal <a href="https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4992160/" target="_blank" rel="noopener noreferrer">Nature Communications.</a>

New genetic variants found to influence risk of most common skin cancer

Using data from 23andMe, researchers at<img loading="lazy" decoding="async" class="alignright size-medium wp-image-2744" src="https://blog-api.23andme.com/wp-content/uploads/2009/02/sun-300x222.jpg" alt="sun" width="300" height="222" /> associated with one of the most common forms of skin cancer, squamous cell carcinoma.


In a study published in <a href="https://www.nature.com/articles/ncomms12048">Nature Communications </a>researchers were able to single out entirely new variants associated with the cancer and they were also able to confirm some previously identified genetic associations. n finding these new associations, the study also uncovered previously unknown biological mechanisms that trigger this form of squamous cell carcinoma.
“Given the large-scale and novel findings of this study, we anticipate that it will be well-received by the scientific community,” said Kavita Sarin, M.D. and Ph.D., who is an assistant professor of dermatology at Stanford and a co-author the paper.

The study is also one of the first genome wide association studies ever done for cutaneous squamous cell cancer. In their work the researchers found 11 genetic variants associated with this form of cancer – four of those have never been seen before.
Squamous cell carcinoma is the second most common skin cancer after basal cell carcinoma.
In the United States about 10 percent of those with European ancestry will have some form of squamous cell carcinoma in their lifetime. Men, people with lighter skin, or those living near the equator, are at higher risk for the disease.
The seven previously known associations are all considered low-to-moderate penetrance sequence variants and are in genes or gene regions related to skin pigmentation, red hair and facial pigmentation– MC1R, ASIP, TYR, SLC45A2, OCA2, IRF4 and BNC2. The variant that lies near the gene BNC2 has been implicated in skin cancer as well as freckling and age spots.
The four newly identified variants are in genes or gene regions that influence not only pigmentation, but freckling, age-related pigmentation spots, and skin color. Taken together the 11 genetic associations identified in this study are estimated to explain over 18 percent of the familial relative risk for squamous cell carcinoma.


For this study researchers looked at data from about 300,000 individuals. More than 286,000 of those are 23andMe customers who consented to research. Among those individuals, 6,000 reported having had squamous cell carcinoma and another 280,000 individuals said they’d never had the disease and were used as controls. The researchers followed that initial work by conducting a genome-wide association study using data from about 12,000 people involved in Harvard’s<a href="https://www.hsph.harvard.edu/hpfs/"> Nurses’ Health Study and Health Professionals Follow-Up Study</a>.
This second stage of the study allowed the researchers to further confirm their findings.
This study was led by scientists at Stanford University’s School of Medicine’s Department of Dermatology, and it included contributions from scientists at 23andMe, Indiana University, and Harvard Medical School.
The same group – working with researchers at Brown, and at Tianjin Medical University Cancer Hospital and Institute in China – is also working on research into another very common form of skin cancer,  basal cell carcinoma.

Skin Cancer