Díez O, Cortés J, Domènech M, Pericay C, Brunet J, Alonso C, Baiget M
Servei de Genètica, Hospital de la Santa Creu i Sant Pau, Barcelona, Spain.
Ann Oncol. 2000 Jan;11(1):81-4. doi: 10.1023/a:1008339009528.
Mutations in the BRCA2 gene account for the majority of the families with male and female breast cancer cases, and a number of BRCA2 mutations have been reported in males with breast cancer. The aim of this study was to characterise BRCA2 germ-line mutations in Spanish male breast cancer patients.
We screened DNA from 11 affected men and 6 women with breast cancer (BC) who had an affected male relative (father or brother). Exons 2-9 and 12-27 were screened by SSCP, and exons 10 and 11 were screened by PTT. PCR products with a variant band were sequenced.
Three BRCA2 frameshift mutations were identified (17.6%): the 3374delA in codon 1049 (exon 11), 6857delAA in codon 2010 (exon 11), and 9254delATCAT in codon 3009 (exon 23). These mutations were present in patients with affected first-degree relatives (3 of 9, 33%). The proportion of male patients with a family history of BC in at least one first-degree relative was 53%.
There is an association between BRCA2 mutations and male breast cancer, especially in those with a family history of BC. The high prevalence of BRCA2 mutations among males should be considered when estimating risk for female relatives. All new male cases of BC should be regarded as being possibly inherited and should be fully investigated.
BRCA2基因的突变在男性和女性乳腺癌患者家族中占大多数，并且在男性乳腺癌患者中已报道了许多BRCA2突变。本研究的目的是鉴定西班牙男性乳腺癌患者中的BRCA2种系突变。
我们对11名患乳腺癌的男性和6名患乳腺癌（BC）且有患病男性亲属（父亲或兄弟）的女性的DNA进行了筛查。通过单链构象多态性（SSCP）筛查外显子2 - 9和12 - 27，通过引物延伸预扩增（PTT）筛查外显子10和11。对具有变异条带的PCR产物进行测序。
鉴定出3种BRCA2移码突变（17.6%）：密码子1049（外显子11）中的3374delA、密码子2010（外显子11）中的6857delAA以及密码子3009（外显子23）中的9254delATCAT。这些突变存在于有患病一级亲属的患者中（9例中的3例，33%）。至少有一名一级亲属患乳腺癌家族史的男性患者比例为53%。
BRCA2突变与男性乳腺癌之间存在关联，尤其是在有乳腺癌家族史的患者中。在评估女性亲属的风险时，应考虑BRCA2突变在男性中的高患病率。所有新诊断的男性乳腺癌病例都应被视为可能具有遗传性，并且应进行全面调查。
