Stratton M R, Ford D, Neuhasen S, Seal S, Wooster R, Friedman L S, King M C, Egilsson V, Devilee P, McManus R
Section of Molecular Carcinogenesis, Institute of Cancer Research, Sutton, UK.
Nat Genet. 1994 May;7(1):103-7. doi: 10.1038/ng0594-103.
Breast cancer in men is about a hundredfold less common than in women and this has hindered research into its genetic basis. We have examined 22 families with at least one case of male breast cancer for linkage to the hereditary breast and ovarian cancer locus, BRCA1, on chromosome 17q. We found strong evidence against linkage to BRCA1 (lod score-16.63) and the best estimate of the proportion of linked families was 0% (95% CI 0-18%). Our results indicate that there is a gene(s) other than BRCA1 which predisposes to early-onset breast cancer in women and which confers a higher risk of male breast cancer. Identification of additional pedigrees that include cases of male breast cancer may therefore facilitate the mapping and isolation of this gene.
男性乳腺癌的发病率比女性低约一百倍，这阻碍了对其遗传基础的研究。我们研究了22个至少有一例男性乳腺癌病例的家族，以确定与位于17号染色体q臂上的遗传性乳腺癌和卵巢癌位点BRCA1的连锁关系。我们发现了与BRCA1连锁的有力反证（连锁对数得分-16.63），连锁家族比例的最佳估计值为0%（95%可信区间0-18%）。我们的结果表明，除BRCA1外，还存在一个基因，它易导致女性早发性乳腺癌，并使男性患乳腺癌的风险更高。因此，识别更多包含男性乳腺癌病例的家系可能有助于该基因的定位和分离。
