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
dell, 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.
Original language | English |
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Pages (from-to) | 541-545 |
Journal | Neoplasia |
Volume | 6 |
Issue number | 5 |
DOIs | |
Publication status | Published - 2004 |
MoE publication type | A1 Journal article-refereed |
Keywords
- BRCA2
- mutation
- male breast cancer
- population
- penetrance