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Somatic genetic alterations in BRCA2 ‐associated and sporadic male breast cancer
Author(s) -
Tirkkonen Mika,
Kainu Tommi,
Loman Niklas,
Jóhannsson Óskar T.,
Olsson Håkan,
Barkardóttir Rósa B.,
Kallioniemi OlliP.,
Borg Åke
Publication year - 1999
Publication title -
genes, chromosomes and cancer
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.754
H-Index - 119
eISSN - 1098-2264
pISSN - 1045-2257
DOI - 10.1002/(sici)1098-2264(199901)24:1<56::aid-gcc8>3.0.co;2-x
Subject(s) - breast cancer , germline mutation , germline , biology , somatic cell , comparative genomic hybridization , cancer , male breast cancer , brca2 protein , cancer research , mutation , oncology , genetics , medicine , gene , genome
The genetic changes underlying the development and progression of male breast cancer are poorly understood. Germline BRCA2 mutations account for a significant part of male breast cancer, but the majority of patients lack a known inherited predisposition. We recently demonstrated that the progression of breast cancer in female carriers of a germline BRCA1 or BRCA2 mutation follows specific genetic pathways, distinct from each other and from sporadic breast cancer. In the present study, we performed a genome‐wide survey by comparative genomic hybridization (CGH) of somatic genetic aberrations in 26 male breast cancers, including five tumors from BRCA2 mutation carriers. BRCA2 tumors exhibited a significantly higher number of chromosomal aberrations than sporadic tumors. The most common alterations in sporadic male breast cancer were +1q (38%), +8q (33%), +17q (33%), –13q (29%), and –8p (24%). In tumors from BRCA2 mutation carriers, the five most common genetic changes were +8q (100%), +20q (100%), +17q (80%), –13q (80%), and –6q (60%). The CGH results in these two groups of male breast cancers are almost identical to those identified in the corresponding sporadic and BRCA2 ‐associated female breast cancers. The results suggest that despite substantial hormonal differences between females and males, similar genetic changes are selected for during tumor progression. Furthermore, the presence of a highly penetrant germline BRCA2 mutation apparently leads to a characteristic somatic tumor progression pathway, again shared between affected male and female mutation carriers. Genes Chromosomes Cancer 24:56–61, 1999. © 1999 Wiley‐Liss, Inc.