The BRCA2 phenotype includes breast (BC) and ovarian cancer (OC) as well as, less frequently, prostate (PC), gastric (GC) and pancreatic cancer. The association with melanoma remains unclear, because previous studies were retrospective and included non- confirmed carriers. With this study we intend to determine the rate of melanoma and nonmelanoma skin cancers diagnoses in a consecutive prospective cohort of confirmed BRCA2 carriers.
Review of all skin cancer diagnoses in BRCA2 carriers under prospective surveillance.
Four hundred and eighty six BRCA2 carriers (376 female, 110 male) belonging to 216 families were identified. The median age for genetic diagnosis was 48,3yrs with the BRCA2 c.156_157inAlu being the mutation most frequently observed (43,6%). Most carriers (359/486) had yearly full skin examinations. Although a majority of women (226/376) were cancer survivors (209 BC, 29 OC and 12 with breast/ovarian cancer), only 30/110 men had a previous cancer diagnosis (20 BC, 8 PC and 2 GCs). For a median follow up of 4 yrs, melanoma diagnoses were 3 in 2 female with bilateral BC. The patient with 2 melanomas had the first melanoma at 28yrs before BC diagnoses. Other skin cancers: 14 squamous cell carcinoma (SCC) (8 invasive, 6 in situ SCC) and 14 pts with basal cell carcinoma (BCC), 6 of which with multiple BCC. Four pts were diagnosed with actinic keratosis (AK). The rate for melanoma is 0,4% and for nonmelanoma skin cancers 5%. The rate for skin cancer in BRCA2 carriers with a previous cancer diagnosis is 2%. No statistical significance was found either for the association of skin cancer (p = 0,221) or melanoma (p = 0,9) with specific BRCA2 mutations.
The low rates of melanoma diagnosis in our prospective confirmed BRCA2 cohort, raises questions about the previously described association of melanoma and BRCA2 mutations. Also, no association was found between the Portuguese founder mutation and melanoma or other skin cancers. Although more follow up may be needed, there is insufficient evidence to warrant increased skin surveillance of BRCA2 carriers in the absence of standard skin cancer risk factors.
Clinical trial identification
Legal entity responsible for the study
IPOL FG, E.P.E.
All authors have declared no conflicts of interest.