Skip to main content

Lund University Publications

LUND UNIVERSITY LIBRARIES

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

Tirkkonen, M ; Kainu, T ; Loman, Niklas LU ; Johannsson, O T ; Olsson, Håkan LU orcid ; 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)
Please use this url to cite or link to this publication:
author
; ; ; ; ; ; and
organization
publishing date
type
Contribution to journal
publication status
published
subject
in
Genes, Chromosomes and Cancer
volume
24
issue
1
pages
56 - 61
publisher
John Wiley & Sons Inc.
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
2016-04-01 11:42:47
date last changed
2022-01-26 17:06:31
@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 Inc.}},
  series       = {{Genes, Chromosomes and Cancer}},
  title        = {{Somatic genetic alterations in BRCA2-associated and sporadic male breast cancer}},
  url          = {{http://www3.interscience.wiley.com/cgi-bin/fulltext/30000117/PDFSTART}},
  volume       = {{24}},
  year         = {{1999}},
}