The risk of skin cancer in women who carry BRCA1 or BRCA2 mutations

Steven A Narod; Kelly Metcalfe; Amy Finch; An-Wen Chan; Susan Randall Armel; Amber Aeilts; Andrea Eisen; Beth Karlan; Louise Bordeleau; Nadine Tung; William D Foulkes; Susan L Neuhausen; Charis Eng; Olufunmilayo Olopade; Dana Zakalik; Fergus Couch; Carey Cullinane; Tuya Pal; Ping Sun; Joanne Kotsopoulos; Hereditary Breast Cancer Clinical Research Group

doi:10.1186/s13053-024-00277-5

The risk of skin cancer in women who carry BRCA1 or BRCA2 mutations

Hered Cancer Clin Pract. 2024 May 13;22(1):7. doi: 10.1186/s13053-024-00277-5.

Authors

Steven A Narod^{1

2}, Kelly Metcalfe^{3

4}, Amy Finch³, An-Wen Chan^{3

5}, Susan Randall Armel^{6

7}, Amber Aeilts⁸, Andrea Eisen⁹, Beth Karlan¹⁰, Louise Bordeleau¹¹, Nadine Tung¹², William D Foulkes¹³, Susan L Neuhausen¹⁴, Charis Eng¹⁵, Olufunmilayo Olopade¹⁶, Dana Zakalik¹⁷, Fergus Couch¹⁸, Carey Cullinane¹⁹, Tuya Pal²⁰, Ping Sun³, Joanne Kotsopoulos^{3

21}; Hereditary Breast Cancer Clinical Research Group

Collaborators

Hereditary Breast Cancer Clinical Research Group:
Aletta Poll, Raymond Kim, Robert Fruscio, Edmond Lemire, Kim Serfas, Kevin Sweet, Leigha Senter, Seema Panchal, Christine Elser, Joanne L Blum, Daniel Rayson, Claudine Isaacs, Jeffrey Dungan, Stephanie Cohen

Affiliations

¹ Women's College Research Institute, Women's College Hospital, 76 Grenville St, M5S 1B1, Toronto, ON, Canada. steven.narod@wchospital.ca.
² Dalla Lana School of Public Health, University of Toronto, Toronto, ON, Canada. steven.narod@wchospital.ca.
³ Women's College Research Institute, Women's College Hospital, 76 Grenville St, M5S 1B1, Toronto, ON, Canada.
⁴ Bloomberg School of Nursing, University of Toronto, Toronto, ON, Canada.
⁵ Division of Dermatology, Department of Medicine, University of Toronto, Toronto, Canada.
⁶ Princess Margaret Hospital, Familial Cancer Clinic, University Health Network, Toronto, ON, Canada.
⁷ Department of Molecular Genetics, University of Toronto, Toronto, ON, Canada.
⁸ Division of Human Genetics, Comprehensive Cancer Center, the Ohio State University Medical Center, Columbus, OH, USA.
⁹ Odette Cancer Center, Toronto, ON, Canada.
¹⁰ Department of Obstetrics and Gynecology, David Geffen School of Medicine, University of California, Los Angeles, CA, USA.
¹¹ Department of Oncology, McMaster University, Hamilton, ON, Canada.
¹² Beth Israel Deaconess Medical Center, Boston, MA, USA.
¹³ Program in Cancer Genetics, Department of Oncology and Human Genetics, McGill University, Montréal, QC, Canada.
¹⁴ Department of Population Sciences, Beckman Research Institute of City of Hope, Duarte, CA, USA.
¹⁵ Genomic Medicine Institute, Cleveland Clinic, Cleveland, OH, USA.
¹⁶ Department of Medicine and Human Genetics, University of Chicago, Chicago, IL, USA.
¹⁷ Cancer Genetics Program, Beaumont Hospital, Royal Oak, MI, USA.
¹⁸ Division of Experimental Pathology and Laboratory Medicine, Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, MN, USA.
¹⁹ MemorialCare Long Beach Medical Center, Long Beach, USA.
²⁰ Division of Genetics, Department of Medicine, Vanderbilt University Medical Centre and Vanderbilt-Ingram Cancer Center, Nashville, TN, USA.
²¹ Dalla Lana School of Public Health, University of Toronto, Toronto, ON, Canada.

Abstract

Background: It 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.

Methods: We 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.

Results: During 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.

Conclusion: The 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.

Keywords: BRCA1; BRCA2; Basal cell carcinoma; Melanoma; Skin cancer.