CHEK2 c.1100delC mutation is associated with an increased risk for male breast cancer in Finnish patient population

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http://hdl.handle.net/10138/224440

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Hallamies , S , Pelttari , L M , Poikonen-Saksela , P , Jekunen , A , Jukkola-Vuorinen , A , Auvinen , P , Blomqvist , C , Aittomaki , K , Mattson , J & Nevanlinna , H 2017 , ' CHEK2 c.1100delC mutation is associated with an increased risk for male breast cancer in Finnish patient population ' , BMC Cancer , vol. 17 , 620 . https://doi.org/10.1186/s12885-017-3631-8

Title: CHEK2 c.1100delC mutation is associated with an increased risk for male breast cancer in Finnish patient population
Author: Hallamies, Sanna; Pelttari, Liisa M.; Poikonen-Saksela, Paula; Jekunen, Antti; Jukkola-Vuorinen, Arja; Auvinen, Paivi; Blomqvist, Carl; Aittomaki, Kristiina; Mattson, Johanna; Nevanlinna, Heli
Contributor: University of Helsinki, Department of Obstetrics and Gynecology
University of Helsinki, Clinicum
University of Helsinki, Clinicum
University of Helsinki, Medicum
University of Helsinki, Department of Oncology
University of Helsinki, Department of Obstetrics and Gynecology
Date: 2017-09-05
Language: eng
Number of pages: 5
Belongs to series: BMC Cancer
ISSN: 1471-2407
URI: http://hdl.handle.net/10138/224440
Abstract: Background: Several susceptibility genes have been established for female breast cancer, of which mutations in BRCA1 and especially in BRCA2 are also known risk factors for male breast cancer (MBC). The role of other breast cancer genes in MBC is less well understood. Methods: In this study, we have genotyped 68 MBC patients for the known breast or ovarian cancer associated mutations in the Finnish population in CHEK2, PALB2, RAD51C, RAD51D, and FANCM genes. Results: CHEK2 c.1100delC mutation was found in 4 patients (5.9%), which is significantly more frequent than in the control population (OR: 4.47, 95% CI 1.51-13.18, p = 0.019). Four CHEK2 I157T variants were also detected, but the frequency did not significantly differ from population controls (p = 0.781). No RAD51C, RAD51D, PALB2, or FANCM mutations were found. Conclusions: These data suggest that the CHEK2 c.1100delC mutation is associated with an increased risk for MBC in the Finnish population.
Subject: Male breast cancer
CHEK2 c.1100delC
OVARIAN-CANCER
BRCA2 MUTATIONS
CONFER SUSCEPTIBILITY
GENE
CHEK2-ASTERISK-1100DELC
VARIANT
FAMILIES
1100DELC
PROSTATE
RAD51C
3122 Cancers
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