BRCA2 mutations in 154 Finnish male breast cancer patients
(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:
https://lup.lub.lu.se/record/262704
- author
- Syrjakoski, K ; Kuukasjarvi, T ; Waltering, K ; Haraldsson, Karin LU ; Auvinen, A ; Borg, Åke LU ; Kainu, T ; Kallioniemi, OP and Koivisto, PA
- organization
- publishing date
- 2004
- 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
- 2016-04-01 12:35:05
- date last changed
- 2022-03-29 02:52:10
@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>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.}}, 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}}, keywords = {{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}}, doi = {{10.1593/neo.04193}}, volume = {{6}}, year = {{2004}}, }