BRCA2 mutations in 154 Finnish male breast cancer patients

Kirsi Syrjäkoski, Tuula Kuukasjärvi, Kati Waltering, Karin Haraldsson, Anssi Auvinen, Åke Borg, Tommi Kainu, Olli Kallioniemi, Pasi A. Koivisto (Corresponding Author)

Research output: Contribution to journalArticleScientificpeer-review

29 Citations (Scopus)

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 languageEnglish
Pages (from-to)541 - 545
Number of pages5
JournalNeoplasia
Volume6
Issue number5
DOIs
Publication statusPublished - 2004
MoE publication typeA1 Journal article-refereed

Fingerprint

Male Breast Neoplasms
Mutation
Breast Neoplasms
Iceland
Finland
Penetrance
Germ-Line Mutation
Rare Diseases
Ovarian Neoplasms
Epidemiologic Studies

Keywords

  • BRCA2
  • mutation
  • male breast cancer
  • population
  • penetrance

Cite this

Syrjäkoski, K., Kuukasjärvi, T., Waltering, K., Haraldsson, K., Auvinen, A., Borg, Å., ... Koivisto, P. A. (2004). BRCA2 mutations in 154 Finnish male breast cancer patients. Neoplasia, 6(5), 541 - 545. https://doi.org/10.1593/neo.04193
Syrjäkoski, Kirsi ; Kuukasjärvi, Tuula ; Waltering, Kati ; Haraldsson, Karin ; Auvinen, Anssi ; Borg, Åke ; Kainu, Tommi ; Kallioniemi, Olli ; Koivisto, Pasi A. / BRCA2 mutations in 154 Finnish male breast cancer patients. In: Neoplasia. 2004 ; Vol. 6, No. 5. pp. 541 - 545.
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Syrjäkoski, K, Kuukasjärvi, T, Waltering, K, Haraldsson, K, Auvinen, A, Borg, Å, Kainu, T, Kallioniemi, O & Koivisto, PA 2004, 'BRCA2 mutations in 154 Finnish male breast cancer patients', Neoplasia, vol. 6, no. 5, pp. 541 - 545. https://doi.org/10.1593/neo.04193

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 journalArticleScientificpeer-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.

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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

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Syrjäkoski K, Kuukasjärvi T, Waltering K, Haraldsson K, Auvinen A, Borg Å et al. BRCA2 mutations in 154 Finnish male breast cancer patients. Neoplasia. 2004;6(5):541 - 545. https://doi.org/10.1593/neo.04193