Department of Medicine, Division of Medical Oncology, University of Toronto, Toronto, ON, Canada.
Fam Cancer. 2010 Dec;9(4):489-93. doi: 10.1007/s10689-010-9377-y.
BRCA1 and BRCA2 mutation carriers have elevated risks of breast and ovarian cancers. The risks for cancers at other sites remain unclear. Melanoma has been associated with BRCA2 mutations in some studies, however, few surveys have included non-melanoma skin cancer. We followed 2729 women with a BRCA1 or BRCA2 mutation for an average of 5.0 years. These women were asked to report new cases of cancer diagnosed in themselves or in their family. The risks of skin cancer were compared for probands with BRCA1 and BRCA2 mutations. Of 1779 women with a BRCA1 mutation, 29 developed skin cancer in the follow-up period (1.6%). Of the 950 women with a BRCA2 mutation, 28 developed skin cancer (3.0%) (OR = 1.83 for BRCA2 versus BRCA1; 95% CI 1.08-3.10; P = 0.02). The odds ratio for basal cell carcinoma was higher (OR = 3.8; 95% CI 1.5-9.4; P = 0.002). BRCA2 mutation carriers are at increased risk for skin cancer, compared with BRCA1 carriers, in particular for basal cell carcinoma.
BRCA1 和 BRCA2 突变携带者患乳腺癌和卵巢癌的风险增加。其他部位癌症的风险尚不清楚。一些研究表明黑色素瘤与 BRCA2 突变有关，但很少有调查包括非黑色素瘤皮肤癌。我们对 2729 名携带 BRCA1 或 BRCA2 突变的女性进行了平均 5.0 年的随访。这些女性被要求报告自己或家人新诊断出的癌症病例。对携带 BRCA1 和 BRCA2 突变的先证者进行了皮肤癌风险比较。在 1779 名携带 BRCA1 突变的女性中，29 名在随访期间患上了皮肤癌（1.6%）。在 950 名携带 BRCA2 突变的女性中，28 名（3.0%）患上了皮肤癌（OR=3.0；95%CI 1.08-3.10；P=0.02）。基底细胞癌的比值比更高（OR=3.8；95%CI 1.5-9.4；P=0.002）。与 BRCA1 携带者相比，BRCA2 突变携带者患皮肤癌的风险增加，特别是基底细胞癌。
