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Somatic genetic alterations in BRCA2-associated and sporadic male breast cancer

Tirkkonen, M; Kainu, T; Loman, Niklas LU ; Johannsson, O T; Olsson, Håkan LU ; Barkardottir, R B; Kallioniemi, O P and Borg, Åke LU (1999) In Genes, Chromosomes and Cancer 24(1). p.56-61
Abstract
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... (More)
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. (Less)
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organization
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Contribution to journal
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published
subject
in
Genes, Chromosomes and Cancer
volume
24
issue
1
pages
56 - 61
publisher
John Wiley & Sons
external identifiers
  • pmid:9892109
  • scopus:0032889945
ISSN
1045-2257
language
English
LU publication?
yes
id
46b72854-3401-4ec1-884b-585aa7e024e8 (old id 1114765)
alternative location
http://www3.interscience.wiley.com/cgi-bin/fulltext/30000117/PDFSTART
date added to LUP
2008-07-04 16:20:18
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2017-04-09 03:29:21
@article{46b72854-3401-4ec1-884b-585aa7e024e8,
  abstract     = {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.},
  author       = {Tirkkonen, M and Kainu, T and Loman, Niklas and Johannsson, O T and Olsson, Håkan and Barkardottir, R B and Kallioniemi, O P and Borg, Åke},
  issn         = {1045-2257},
  language     = {eng},
  number       = {1},
  pages        = {56--61},
  publisher    = {John Wiley & Sons},
  series       = {Genes, Chromosomes and Cancer},
  title        = {Somatic genetic alterations in BRCA2-associated and sporadic male breast cancer},
  volume       = {24},
  year         = {1999},
}