CHEK2 C.1100delC Mutation is Associated with an Increased Risk for Male Breast Cancer in Finnish Patient Population

Overview

Journal BMC Cancer

Publisher Biomed Central

Specialty Oncology

Date 2017 Sep 7

PMID 28874143

Citations 18

Authors

Sanna Hallamies

Liisa M Pelttari

Paula Poikonen-Saksela

Antti Jekunen

Arja Jukkola-Vuorinen

Paivi Auvinen

Carl Blomqvist

Kristiina Aittomaki

Johanna Mattson

Heli Nevanlinna

Affiliations

Soon will be listed here.

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.

Citing Articles

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Cohort profile: a nationwide study in Dutch c.1100delC families using the infrastructure of the HEreditary Breast and Ovarian cancer study Netherlands - Hebon-CHEK2.

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