Study: Skin cancer among women with an inherited BRCA mutation
Women with an inherited BRCA1 and BRCA2 mutation have an increased risk of various cancers. Study results suggest that although the risk of non-melanoma skin cancer in these women is similar to the risk of the general population, the risk of melanoma skin cancer is slightly increased. (Posted 7/25/24)
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RELEVANCE
Most relevant for: People with an inherited BRCA mutation.
It may also be relevant for:
- previvors
- people with a genetic mutation linked to cancer risk
- people with a family history of cancer
Relevance: Medium-High
Strength of Science: Medium
Research Timeline: Human Research
What is this study about?
In the general population, risk factors for skin cancer include the amount of sun exposure, fair skin, lighter eye color and a family history of skin cancer.
Inherited mutations in several genes have been shown to increase the risk of skin cancer. However, it is unclear if an inherited or mutation increases the risk of skin cancer.
What is this study about?
Researchers of this study wanted to know if having a BRCA1 or BRCA2 mutation increases risk of skin cancer and melanoma.
Why is this study important?
Women who have an in BRCA1 or BRCA2 have an increased risk of several cancers, including breast, ovarian, , peritoneal and pancreatic cancers. However, research on whether having a mutation increases the risk of skin cancer, specifically melanoma, has been conflicting. Because of this uncertainty, people with inherited BRCA mutations question when and how often they should be screened for skin cancer.
Study findings
Researchers followed 6,207 women with an inherited mutation in BRCA1 (3,623) or BRCA2 (2,584). The average age of participants was 55. All participants lived in North America (in the United States or Canada).
Women were followed for an average of eight years. The average age at follow-up was 55.
- 232 women reported a diagnosis of any skin cancer.
- 133 had a BRCA1 mutation.
- 99 had a BRCA2 mutation.
- In this study, the lifetime risk of any skin cancer was:
- 14.1% for BRCA1 mutation carriers.
- 10.7% for BRCA2 mutation carriers.
These risks are similar to the lifetime risk of any skin cancer among women in the general population.
- 44 women reported a diagnosis of melanoma.
- 23 had a BRCA1 mutation.
- 21 had a BRCA2 mutation.
- In this study, the lifetime risk of melanoma was:
- 2.5% for BRCA1 mutation carriers.
- 2.3% for BRCA2 mutation carriers.
The lifetime risk of melanoma among BRCA1 or BRCA2 mutation carriers was slightly higher than the lifetime risk in the general population. The risk is 1.5 percent in the general population compared to 2.5 percent for women with a BRCA1 mutation and 2.3 percent for women with a BRCA2 mutation.
Lifetime risk of skin cancer
| Any skin cancer | Melanoma | |
| US women | up to 20% | 1.5% |
| BRCA1 | 14.1% | 2.5% |
| BRCA2 | 10.7% | 2.3% |
Skin cancer rates increase with age. In this study, skin cancer rates were highest after age 70.
When researchers looked at previous cancers among participants, the lifetime risk of any skin cancer increased after a breast cancer diagnosis only among BRCA1 mutation carriers.
Other skin cancer genes
The table below lists genes that are linked to an increased skin cancer risk.
| Skin cancer type or syndrome | Genes |
| Melanoma | ACD, BRCA1*, BRCA2, BAP1, , CDNK2A, MITF, MC1R , POT1, , RB1, TERF2IP, TERT, , Xeroderma pigmentosa genes |
| BAP1, MBD4, * | |
| Sebaceous | , , , , |
| Basal Cell Carcinoma, including Nevoid Basal Cell Syndrome or Gorlin syndrome | PTCH1, PTCH2, SUFU |
| *More research is needed to confirm a link between a mutation in this gene and increased risk for melanoma. | |
