Introduction Several epidemiologic studies have provided suggestive evidence of a link between coetaneous malignant melanoma (CMM) and
breast cancer. The Breast Cancer Linkage Consortium (BCLC) reported approximately 2.6-fold increase in the risk for CMM among
BRCA2 carrier families.
Methods To evaluate the role of
BRCA1/2 mutations in CMM, we screened 92 Jewish patients of Ashkenazi origin diagnosed with CMM for the three Ashkenazi founder mutations:
185delAG and 5382insC in the
BRCA1 and 6174delT in the
BRCA2 gene. Information about personal demography, family history of cancer, and occupational and lifestyle history was collected.
Results Thirty-seven of 92 (40.2%) CMM patients reported a family history of cancer in a first-degree relative. In 14 patients, history
of breast cancer (BC) was recorded; however, no family had features associated with
BRCA carrier status (i.e., young age at BC onset, history of several BC cases or ovarian cancer in the family). None of the patients
were found to carry any of these three mutations.
Conclusion Our results suggest a limited role for the three Ashkenazi
BRCA founder mutations in CMM risk among the Ashkenazi Jewish population. Therefore, screening patients with CMM for these
BRCA1/2 mutations is not warranted.
Keywords
BRCA1
-
BRCA2
- Ashkenazi - Melanoma - Risk
Dr. Mark Temper is an equal contributor to the manuscript.