Somatic genetic alterations in BRCA2-associated and sporadic male breast cancer
(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:
https://lup.lub.lu.se/record/1114765
- author
- Tirkkonen, M
; Kainu, T
; Loman, Niklas
LU
; Johannsson, O T
; Olsson, Håkan
LU
; Barkardottir, R B
; Kallioniemi, O P
and Borg, Åke
LU
- organization
- publishing date
- 1999
- type
- Contribution to journal
- publication status
- published
- subject
- in
- Genes, Chromosomes and Cancer
- volume
- 24
- issue
- 1
- pages
- 56 - 61
- publisher
- Wiley-Liss 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
- 2025-10-14 09:22:24
@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 = {{Wiley-Liss 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}},
}