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How Is Skin Cancer Inherited

Importance Of Cancer Screening

Is Skin Cancer Genetic or Hereditary? | Skin Cancer

If you have a parent, sibling or child with a history of melanoma, you should carefully monitor your skin.

The American Academy of Dermatology recommends that you have your skin screened every six months to one year to make sure there are no worrisome spots;and have an immediate check if you notice any moles changing in size, shape or color, says Dr. Hoffmann. If melanoma runs in your family, children should begin skin screenings by the age of 10, and everyone in the family should perform self-exams at home to monitor any changes. As always, everyone should also wear sunscreen.

Uv Exposure: The Biggest Culprit

UV radiation from the sun is the number one cause of skin cancer. These harmful rays, which can also be transmitted through tanning beds, damage the genes inside skin cells, which causes the cells to grow out of control.

About 90 percent of nonmelanoma skin cancers and 86 percent of melanomas are linked to UV rays. %20radiation%20from%20the,as%20exposure%20during%20the%20summertime” rel=”nofollow”>7)

Basal cell and squamous cell carcinomas often develop after many years of sun exposure. They typically crop up on sun-exposed areas, such as the face, ears, hands, neck, and arms.

Some research suggests that the pattern and timing of UV exposure may affect the development of melanoma. For instance, melanomas on the chest, back, and legs have been linked to frequent sunburns in childhood. These melanomas may be different from melanomas that start on the face, neck, and arms, which might be due to more continuous sun exposure.

On the other hand, some melanomas are found in areas where theres been little or no sun exposure, including the soles of the feet, nail beds, mouth, or vagina.

Tanning beds, booths, and sun lamps give off harmful UV light and are just as dangerous as the sun. Just one indoor tanning session can increase your chances of developing skin cancer.

Women who use indoor tanning equipment before they turn 30 years old are six times more likely to develop melanoma.

Is Skin Cancer Hereditary

May 11, 2021

After a long winter, particularly in the colder northern latitudes, spring provides a welcome return to the sun, warmth, and inevitably, more outdoor activities. ;

Many schools, health departments and healthcare facilities are promoting skin cancer awareness to help reduce environmental risk factors, such as ultraviolet light exposure. In recognition of Melanoma and Skin Cancer Awareness Month this May, we are focusing on hereditary forms of skin cancer, their prevalence, and measures you can take to prevent skin cancer in both you and your loved ones.

Skin cancer is the most common form of cancer in both the United States and the world. The disease can be divided into three major types: melanoma, basal cell carcinoma and squamous cell carcinoma . Melanomas are skin cancers that originate in melanocytes, the cells in the skin that produce melanin . Likewise, BCCs start in basal cells of the skin and SCCs begin in the squamous cells. Melanoma is the most serious of the three types of skin cancer. Both BCC and SCC skin cancers are considered nonmelanoma skin cancers.

There are many risk factors for melanoma and nonmelanoma skin cancer. Risk factors for these diseases include:

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Family History Of Skin Cancer

One risk factor that is often ignored or overlooked is genetics. Genetic tendencies play a role in a persons susceptibility to developing skin cancer. As Dr. Prado explains, The majority of melanoma cases are also related to sun exposure, but researchers estimate that about 5 to 10 percent of cases are inherited.

Skin cancer occurs due to a mutation in the DNA of the skin cells. While these mutations can happen in anyone, some individuals may be more prone to the mutations than others solely based on inherited cellular traits.

Dr. Vinh Chung explains that We ask our patients if they have a family history of skin cancer, because this can increase someones chance of developing it themselves. This can be due to a variety of factors such as a shared family lifestyle of sun exposure, a familys skin coloring, or certain genetic factors that run in a family.

Training And Validation Sets

Is Melanoma Hereditary?

We split the full dataset in two parts: the first 103,008 participants collected between May and September 2016 were used as a training set; The 88,924 participants collected between October 2016 and June 2017 were used as a validation set . We selected samples to be between 30 and 90 years old and of European ancestry, and excluded <200 participants who reported outlier or inconsistent responses. The proportion of missing responses varied across questions from 2 to 15%. To obtain a complete dataset, we imputed missing phenotype data using Hmisc library in R . To ensure robustness of inference, we duplicated our analyses using the non-imputed dataset, and compared the models. Without phenotype imputation, the number of participants dropped from 103,008 to 74,703 in the training set . In order to evaluate potential non-linear effect of age and complex relationship with the other risk factors, we also built and analyzed an age-matched dataset. We used semi-parametric and non-parametric matching methods implemented in MatchIt library in R, with a ratio of one case for two controls . The match dataset for the training set contained 14,672/29,288, 7307/14,513, and 3933/11,739 cases and controls for BCC, SCC, and melanoma, respectively .

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Skin Cancer Symptoms And Signs

Basal Cell Carcinoma

BCC is the most common type of skin cancer and has a predilection for sun-exposed skin. Tumors may appear as a pearly or waxy bumps usually with visible blood vessels , or as a flat scaly reddish patch with a brown border, or as a hard or scar-like lesion . Frequently BCCs can be itchy, often bleed, or in more advanced cases, ulcerate.

Q: What Is Familial Melanoma

A: Its a set of genes that makes people more susceptible to getting melanoma. About a decade ago, we found mutations in two main genes CDKN2A and CDK4 that link to the condition. In the past few years, we have found 10 more genes associated with the condition.

And we know that people who have these gene mutations running in their families are;more likely than the average person to get melanoma and certain other cancers, including breast, ovarian, pancreatic and kidney cancers, and;mesothelioma;.

When we know someone has familial melanoma, it helps us protect them and their family members from other cancers in the future.

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Exposure To Sun Over Time

Because we are living longer, we are exposed to more sun during our lifetime. This means skin cancer is more common than it used to be. Skin cancer is more common in people over the age of 40 and becomes more common with age. But the number of younger people developing skin cancer is also rising.

People who work outdoors for example, farm workers, builders and gardeners have a greater risk. This is because they are exposed to the sun for long periods of time.

What Causes Familial Melanoma

Genetics, Skin Cancer, and You

Familial melanoma is a genetic or inherited condition. This means that the risk of melanoma can be passed from generation to generation in a family. To date, 2 genes have been primarily linked to familial melanoma; they are calledCDKN2A and CDK4. A mutation in either of these genes gives a person an increased risk of melanoma. However, alterations in these 2 genes only account for a small percentage of familial melanoma.

CDKN2A is unusual because it affects 2 separate proteins that have different functions; one is called p16, and one is called p14ARF. Both CDKN2A and CDK4 play important roles in controlling when cells divide. Studies of families with mutations in CDKN2A from Europe, North America, and Australia have shown that the risk of melanoma varies by geographic area. The reasons for these differences are not fully understood. There may be differences in the amount of sun they receive, other individual or genetic differences, or a combination of these factors. In addition, there may also be an increased risk of pancreatic cancer.

Within melanoma-prone families with known genetic mutations, dysplastic nevi and sun exposure are independent risk factors for melanoma. Recently it has been discovered that variations in another gene, MC1R, alter the risk of melanoma, both in individuals with CDKN2A mutations and in individuals without CDKN2A mutations. MC1R is important in regulating pigment in the body; variations have been associated with freckling and red hair.

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Should I Get Genetic Counseling

Genetic counseling can help you understand whether you have an inherited risk of melanoma, but its not appropriate for everyone. Roswell Park recommends genetic counseling if your physician;observes a strong family history of melanoma or pancreatic cancer in at least three members on one side of the family, at least three melanomas developing in one person with the first occurring before age 45 or if we diagnose a specific type of unusual mole. In addition, having another type of skin cancer, such as basal cell carcinoma or squamous cell carcinoma, increases your risk of developing melanoma.

While its rare, your melanoma risk could be influenced by a family history of mesothelioma, an aggressive cancer that is caused by the inhalation of asbestos fibers; meningioma, a tumor that forms in the head and may affect the brain; and/or uveal melanoma, tumors that arise from pigment cells in our eyes.

Prevention is key to reducing your risk of melanoma, whether or not you have an inherited risk. The main risk factor for melanoma is exposure to ultraviolet light, whether that comes from the sun or from tanning beds, so avoiding exposure is crucial to lowering your risk.

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Syndromes Associated With A Predisposition To Basal Cell Carcinoma

Basal cell nevus syndrome

BCNS, also known as Gorlin Syndrome, Gorlin-Goltz syndrome, and nevoid BCC syndrome, is an autosomal dominant disorder with an estimated prevalence of 1 in 57,000 individuals. The syndrome is notable for complete penetrance and high levels of variable expressivity, as evidenced by evaluation of individuals with identical genotypes but widely varying phenotypes. The clinical features of BCNS differ more among families than within families. BCNS is primarily associated with germline pathogenic variants in PTCH1, but families with this phenotype have also been associated with alterations in PTCH2 and SUFU.

Other associated benign neoplasms include gastric hamartomatous polyps, congenital pulmonary cysts, cardiac fibromas, meningiomas, craniopharyngiomas, fetal rhabdomyomas, leiomyomas, mesenchymomas, basaloid follicular hamartomas, and nasal dermoid tumors. Development of meningiomas and ependymomas occurring postradiation therapy has been documented in the general pediatric population; radiation therapy for syndrome-associated intracranial processes may be partially responsible for a subset of these benign tumors in individuals with BCNS. In addition, radiation therapy of malignant medulloblastomas in the BCNS population may result in many cutaneous BCCs in the radiation ports. Similarly, treatment of BCC of the skin with radiation therapy may result in induction of large numbers of additional BCCs.

DNA repair genes

Rare syndromes

Rombo syndrome

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What Causes Melanoma Skin Cancer

Many risk factors for melanoma have been found, but its not always clear exactly how they might cause cancer.

For example, while most moles never turn into a melanoma, some do. Researchers have found some gene changes inside mole cells that may cause them to become melanoma cells. But its still not known exactly why some moles become cancerous while most dont.

DNA is the chemical in each of our cells that makes up our genes, which control how our cells function. We usually look like our parents because they are the source of our DNA. But DNA affects more than just how we look.

Some genes control when our cells grow, divide into new cells, and die:

  • Genes that help cells grow, divide, and stay alive are called oncogenes.
  • Genes that keep cell growth in check, repair mistakes in DNA,;or cause cells to die at the right time are called tumor suppressor genes.

Cancers can be caused by DNA mutations that keep oncogenes turned on, or that turn off tumor suppressor genes. These types of gene changes can lead to cells growing out of control. Changes in several different genes are usually needed for a cell to become a cancer cell.

Bioinformatics And Clinical Interpretation

What Cancers Are Hereditary?


Clinical interpretation

We provide customers with the most comprehensive clinical report available on the market. Clinical interpretation requires a fundamental understanding of clinical genetics and genetic principles. At Blueprint Genetics, our PhD molecular geneticists, medical geneticists and clinical consultants prepare the clinical statement together by evaluating the identified variants in the context of the phenotypic information provided in the requisition form. Our goal is to provide clinically meaningful statements that are understandable for all medical professionals regardless of whether they have formal training in genetics.

Variant classification is the corner stone of clinical interpretation and resulting patient management decisions. Our classifications follow the;ACMG guideline 2015.

The final step in the analysis is orthogonal confirmation. Sequence and copy number variants classified as pathogenic, likely pathogenic and variants of uncertain significance are confirmed using bi-directional Sanger sequencing by orthogonal methods such as qPCR/ddPCR when they do not meet our stringent NGS quality metrics for a true positive call.

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People With Dark Skin Can Develop Skin Cancer Too

Skin cancer is more likely to affect people with lighter skin because they have less pigment to protect them from the suns harmful rays. But dark-skinned individuals can also develop skin cancer.

When skin cancers do occur in Black Americans or other People of Color, theyre usually diagnosed at a later stage because theres a lack of awareness about risk in the general population, and even physicians may be slow to suspect skin cancer because its less common in these populations.

Unfortunately, late detection means a worse prognosis. One study found the average five-year melanoma survival rate was only 65 percent for Black Americans compared with 91 percent for Caucasians. Another study revealed that late-stage melanoma diagnoses were more prevalent in Hispanic and Black Americans than non-Hispanic whites.

Its important that people with darker skin examine their skin often for any changes and see their dermatologist for regular checkups.

Figure 3 Smo Mutation

SMO is known as an proto-oncogene or a type of gene that causes cells to grow, divide, and stay alive.5,9 Certain mutations to SMO cause it to stay on all the time, leading to cancer development. SMO is mutated in 10-20% of BCC.15 When SMO is mutated, the medications that block SMO may not work.10

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Q: How Might You Know If Melanoma Runs In Your Family

A: We are currently studying people who have had two or more melanomas in one person or in their family. People should consider joining this study if they have melanoma and have family members with other cancers like breast or kidney cancer.

My guess is that melanoma is going to end up being like the canary in the coal mine. Its the bell that rings, alerting you to a family with a higher predisposition for having a number of cancers especially in fairer-skinned Caucasian populations.

How Do Mc1r Gene Mutations Cause Melanoma

Inherited Risk and Prevention of Melanoma

MC1R codes for a seven-transmembrane G protein-coupled receptor expressed on the surface of melanocytes. It is a receptor for -melanocyte stimulating hormone and its antagonist, agouti.

The binding of -MSH to the cell membrane receptor on a melanocyte leads to a switch in melanin from the red/yellow phaeomelanin pigments to the brown/black eumelanin. The black eumelanin is photoprotective against the damaging effects of the suns ultraviolet radiation.

Mutations in MC1R can affect the change from phaeomelanin to eumelanin pigment and increase melanoma risk.

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Skin Cancer Types Genetics And Risk Factors:

The Skin Cancer Foundation estimates that about 1 in 5 people in the US will get skin cancer by the age of 70. Other regions around the world vary in skin cancer risk based on sun exposure and the typical skin color of the population.

There are 3 different types of skin cancer:

  • basal cell carcinoma
  • melanoma

Basal Cell Carcinoma:

This is the most common type of skin cancer, and it rarely metastasizes. Basal cell carcinomas are easily removed, especially at the early stages, and it is the least deadly type. This type of skin cancer can be caused by sun exposure.

Squamous cell carcinoma:

Squamous cell carcinomas are the second most common type of skin cancer. It can be cured when caught early, but there is a risk of metastasis to the lymph nodes, so it needs to be taken care of quickly. These are often sun induced cancers.

Malignant Melanoma:

Melanomas are dark, irregularly shaped skin cancers. These are the least common, but most dangerous type of skin cancer because they can metastasize rapidly. They can arise from a mole or from a thickened patch of sun-damaged skin .

Why does UV radiation cause skin cancer?

Cancer arises through DNA mutations in tumor suppressor genes or oncogenes. UV-B radiation can cause breaks in the nuclear DNA, and when the cells divide, this can cause a change in a tumor suppressor or oncogene. Up to 95% of the time, skin cancer mutations include UV-radiation induced changes to the TP53 gene, which codes for a tumor suppressor.

Figure 4 Simplified Mapk Pathway

Certain mutations cause BRAF to stay on, sending continuous signals for cell growth.12 Two medications used to treat melanoma, Zelboraf® , Tafinlar® ,and BRAFTOVI® help to block the BRAF protein. Certain BRAF inhibitors may be used together with specific medications that block MEK, which is another protein in the chain of events. Three MEK inhibitors used for melanoma are Mekinist® , Cotellic® , and Mektovi® .

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