ArticleHereditary cancer in clinical practice2024
The risk of skin cancer in women who carry BRCA1 or BRCA2 mutations.
Article in Hereditary cancer in clinical practice, 2024. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 6 papers.
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Who cites it
6 citing papers in PubMed.
- Skin Cancer Predisposition Genes, Full-Body Skin Examinations, Familial Disclosure, and Genetic Testing Among High-Risk Individuals.International journal of dermatology · 2026Article
- Causative Role for a BRCA2 Germline Pathogenic Variant in External Auditory Canal Squamous Cell Carcinoma.Genes, chromosomes & cancer · 2026Article
- Skin cancer risk in hereditary mixed cancer syndromes.Hereditary cancer in clinical practice · 2025Review
- Mapping of the hSOX10 protein interactome in human melanoma.bioRxiv : the preprint server for biology · 2025Article
- Bilateral Risk-Reducing Mastectomy With Immediate Breast Reconstruction Lowers Concerns of Breast Cancer in Women With a High-Risk Genetic Predisposition for Breast Cancer Compared With a Radiological Imaging Surveillance Group.Journal of surgical oncology · 2025Article
- Skin Signals: Exploring the Intersection of Cancer Predisposition Syndromes and Dermatological Manifestations.International journal of molecular sciences · 2025Review
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Authors and funding
21 authors.
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Abstract
backgroundIt has not been clearly established if skin cancer or melanoma are manifestations of BRCA1 or BRCA2 mutation carrier status. Estimating the risk of skin cancer is an important step towards developing screening recommendations.
methodsWe report the findings of a prospective cohort study of 6,207 women from North America who carry BRCA1 or BRCA2 mutations. Women were followed from the date of baseline questionnaire to the diagnosis of skin cancer, to age 80 years, death from any cause, or the date of last follow-up.
resultsDuring the mean follow-up period of eight years, 3.7% of women with a BRCA1 mutation (133 of 3,623) and 3.8% of women with a BRCA2 mutation (99 of 2,584) reported a diagnosis of skin cancer (including both keratinocyte carcinomas and melanoma). The cumulative risk of all types of skin cancer from age 20 to 80 years was 14.1% for BRCA1 carriers and 10.7% for BRCA2 carriers. The cumulative risk of melanoma was 2.5% for BRCA1 carriers and 2.3% for BRCA2 carriers, compared to 1.5% for women in the general population in the United States. The strongest risk factor for skin cancer was a prior diagnosis of skin cancer.
conclusionThe risk of non-melanoma skin cancer in women who carry a mutation in BRCA1 or BRCA2 is similar to that of non-carrier women. The risk of melanoma appears to be slightly elevated. We suggest that a referral to a dermatologist or primary care provider for BRCA mutation carriers for annual skin examination and counselling regarding limiting UV exposure, the use of sunscreen and recognizing the early signs of melanoma might be warranted, but further studies are necessary.
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