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BRCA2 mutations in 154 Finnish male breast cancer patients

Syrjakoski, K; Kuukasjarvi, T; Waltering, K; Haraldsson, Karin LU ; Auvinen, A; Borg, Åke LU ; Kainu, T; Kallioniemi, OP and Koivisto, PA (2004) In Neoplasia 6(5). p.541-545
Abstract
The etiology and pathogenesis of male breast cancer (MBC) are poorly known. This is due to the fact that the disease is rare, and large-scale genetic epidemiologic studies have been difficult to carry out. Here, we studied the frequency of eight recurrent Finnish BRCA2 founder mutations in a large cohort of 154 MBC patients (65% diagnosed in Finland from 1967 to 1996). Founder mutations were detected in 10 patients (6.5%), eight of whom carried the 9346(-2) A>G mutation. Two novel mutations (4075 delGT and 5808 del5) were discovered in a screening of the entire BRCA2 coding region in 34 samples. However, these mutations were not found in the rest of the 120 patients studied. Patients with positive family history of breast and/or ovarian... (More)
The etiology and pathogenesis of male breast cancer (MBC) are poorly known. This is due to the fact that the disease is rare, and large-scale genetic epidemiologic studies have been difficult to carry out. Here, we studied the frequency of eight recurrent Finnish BRCA2 founder mutations in a large cohort of 154 MBC patients (65% diagnosed in Finland from 1967 to 1996). Founder mutations were detected in 10 patients (6.5%), eight of whom carried the 9346(-2) A>G mutation. Two novel mutations (4075 delGT and 5808 del5) were discovered in a screening of the entire BRCA2 coding region in 34 samples. However, these mutations were not found in the rest of the 120 patients studied. Patients with positive family history of breast and/or ovarian cancer were often BRCA2 mutation carriers (44%), whereas those with no family history showed a low frequency of involvement (3.6%; P < .0001). Finally, we found only one Finnish MBC patient with 999 del5, the most common founder mutation in Finnish female breast cancer (FBC) patients, and one that explains most of the hereditary FBC and MBC cases in Iceland. The variation in BRCA2 mutation spectrum between Finnish MBC patients and FBC patients in Finland and breast cancer patients in Iceland suggests that modifying genetic and environmental factors may significantly influence the penetrance of MBC and FBC in individuals carrying germline BRCA2 mutations in some populations. (Less)
Please use this url to cite or link to this publication:
author
organization
publishing date
type
Contribution to journal
publication status
published
subject
keywords
population, male breast cancer, BRCA2, mutation, penetrance
in
Neoplasia
volume
6
issue
5
pages
541 - 545
publisher
Neoplasia Press
external identifiers
  • wos:000224657800014
  • scopus:6944243947
ISSN
1522-8002
DOI
10.1593/neo.04193
language
English
LU publication?
yes
id
23f4fc24-bd8a-4e82-b582-85c9f3d12c6b (old id 262704)
alternative location
http://www.pubmedcentral.nih.gov/articlerender.fcgi?artid=1531658
date added to LUP
2007-11-02 11:38:26
date last changed
2017-09-24 03:47:53
@article{23f4fc24-bd8a-4e82-b582-85c9f3d12c6b,
  abstract     = {The etiology and pathogenesis of male breast cancer (MBC) are poorly known. This is due to the fact that the disease is rare, and large-scale genetic epidemiologic studies have been difficult to carry out. Here, we studied the frequency of eight recurrent Finnish BRCA2 founder mutations in a large cohort of 154 MBC patients (65% diagnosed in Finland from 1967 to 1996). Founder mutations were detected in 10 patients (6.5%), eight of whom carried the 9346(-2) A&gt;G mutation. Two novel mutations (4075 delGT and 5808 del5) were discovered in a screening of the entire BRCA2 coding region in 34 samples. However, these mutations were not found in the rest of the 120 patients studied. Patients with positive family history of breast and/or ovarian cancer were often BRCA2 mutation carriers (44%), whereas those with no family history showed a low frequency of involvement (3.6%; P &lt; .0001). Finally, we found only one Finnish MBC patient with 999 del5, the most common founder mutation in Finnish female breast cancer (FBC) patients, and one that explains most of the hereditary FBC and MBC cases in Iceland. The variation in BRCA2 mutation spectrum between Finnish MBC patients and FBC patients in Finland and breast cancer patients in Iceland suggests that modifying genetic and environmental factors may significantly influence the penetrance of MBC and FBC in individuals carrying germline BRCA2 mutations in some populations.},
  author       = {Syrjakoski, K and Kuukasjarvi, T and Waltering, K and Haraldsson, Karin and Auvinen, A and Borg, Åke and Kainu, T and Kallioniemi, OP and Koivisto, PA},
  issn         = {1522-8002},
  keyword      = {population,male breast cancer,BRCA2,mutation,penetrance},
  language     = {eng},
  number       = {5},
  pages        = {541--545},
  publisher    = {Neoplasia Press},
  series       = {Neoplasia},
  title        = {BRCA2 mutations in 154 Finnish male breast cancer patients},
  url          = {http://dx.doi.org/10.1593/neo.04193},
  volume       = {6},
  year         = {2004},
}