Abstract
| Original language | English |
|---|---|
| Pages (from-to) | 541-545 |
| Journal | Neoplasia |
| Volume | 6 |
| Issue number | 5 |
| DOIs | |
| Publication status | Published - 2004 |
| MoE publication type | A1 Journal article-refereed |
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Keywords
- BRCA2
- mutation
- male breast cancer
- population
- penetrance
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BRCA2 mutations in 154 Finnish male breast cancer patients. / Syrjäkoski, Kirsi; Kuukasjärvi, Tuula; Waltering, Kati; Haraldsson, Karin; Auvinen, Anssi; Borg, Åke; Kainu, Tommi; Kallioniemi, Olli; Koivisto, Pasi A. (Corresponding Author).
In: Neoplasia, Vol. 6, No. 5, 2004, p. 541-545.Research output: Contribution to journal › Article › Scientific › peer-review
TY - JOUR
T1 - BRCA2 mutations in 154 Finnish male breast cancer patients
AU - Syrjäkoski, Kirsi
AU - Kuukasjärvi, Tuula
AU - Waltering, Kati
AU - Haraldsson, Karin
AU - Auvinen, Anssi
AU - Borg, Åke
AU - Kainu, Tommi
AU - Kallioniemi, Olli
AU - Koivisto, Pasi A.
PY - 2004
Y1 - 2004
N2 - 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.
AB - 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.
KW - BRCA2
KW - mutation
KW - male breast cancer
KW - population
KW - penetrance
U2 - 10.1593/neo.04193
DO - 10.1593/neo.04193
M3 - Article
VL - 6
SP - 541
EP - 545
JO - Neoplasia
JF - Neoplasia
SN - 1522-8002
IS - 5
ER -