CHEK2 1100delC and male breast cancer in the Netherlands

M (Marijke) Wasielewski; Michael den Bakker; Ans van den Ouweland; Marion Gelder; H (Henk) Portengen; Jan Klijn; EJ Meijers-Heijboer; John Foekens; Mieke Schutte

doi:10.1007/s10549-008-0162-7

CHEK2 1100delC and male breast cancer in the Netherlands

M (Marijke) Wasielewski, Michael den Bakker, Ans van den Ouweland, Marion Gelder, H (Henk) Portengen, Jan Klijn, EJ Meijers-Heijboer, John Foekens, Mieke Schutte

Research output: Contribution to journal › Article › Academic › peer-review

39 Citations (Scopus)

Abstract

Mutations in the breast cancer susceptibility genes BRCA1, BRCA2, and CHEK2 are known risk factors for female breast cancer. Mutations in BRCA1 and BRCA2 also are associated with male breast cancer (MBC). Similarly, it had been suggested in the original CHEK2 identification report that the CHEK2 1100delC mutation confers an increased risk for MBC. Here, we have evaluated the risk of CHEK2 1100delC for MBC by genotyping CHEK2 1100delC in 23 familial and 71 unselected Dutch MBC cases. None of the 23 familial MBC cases carried the CHEK2 1100delC mutation. In contrast, CHEK2 1100delC was present in 3 of the 71 (4.2%) unselected MBC cases, which was significantly more prevalent than the 1.1% Dutch population frequency assessed in 1,692 individuals (P = 0.05, OR = 4.1, 95% CI 1.2-14.3). Our data suggest that, in the Netherlands, CHEK2 1100delC is associated with an increased risk for MBC.

Original language	Undefined/Unknown
Pages (from-to)	397-400
Number of pages	4
Journal	Breast Cancer Research and Treatment
Volume	116
Issue number	2
DOIs	https://doi.org/10.1007/s10549-008-0162-7
Publication status	Published - 2009

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10.1007/s10549-008-0162-7

http://hdl.handle.net/1765/15959

Cite this

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title = "CHEK2 1100delC and male breast cancer in the Netherlands",

abstract = "Mutations in the breast cancer susceptibility genes BRCA1, BRCA2, and CHEK2 are known risk factors for female breast cancer. Mutations in BRCA1 and BRCA2 also are associated with male breast cancer (MBC). Similarly, it had been suggested in the original CHEK2 identification report that the CHEK2 1100delC mutation confers an increased risk for MBC. Here, we have evaluated the risk of CHEK2 1100delC for MBC by genotyping CHEK2 1100delC in 23 familial and 71 unselected Dutch MBC cases. None of the 23 familial MBC cases carried the CHEK2 1100delC mutation. In contrast, CHEK2 1100delC was present in 3 of the 71 (4.2%) unselected MBC cases, which was significantly more prevalent than the 1.1% Dutch population frequency assessed in 1,692 individuals (P = 0.05, OR = 4.1, 95% CI 1.2-14.3). Our data suggest that, in the Netherlands, CHEK2 1100delC is associated with an increased risk for MBC.",

author = "Wasielewski, {M (Marijke)} and {den Bakker}, Michael and {van den Ouweland}, Ans and Marion Gelder and Portengen, {H (Henk)} and Jan Klijn and EJ Meijers-Heijboer and John Foekens and Mieke Schutte",

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doi = "10.1007/s10549-008-0162-7",

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T1 - CHEK2 1100delC and male breast cancer in the Netherlands

AU - Wasielewski, M (Marijke)

AU - den Bakker, Michael

AU - van den Ouweland, Ans

AU - Gelder, Marion

AU - Portengen, H (Henk)

AU - Klijn, Jan

AU - Meijers-Heijboer, EJ

AU - Foekens, John

AU - Schutte, Mieke

PY - 2009

Y1 - 2009

N2 - Mutations in the breast cancer susceptibility genes BRCA1, BRCA2, and CHEK2 are known risk factors for female breast cancer. Mutations in BRCA1 and BRCA2 also are associated with male breast cancer (MBC). Similarly, it had been suggested in the original CHEK2 identification report that the CHEK2 1100delC mutation confers an increased risk for MBC. Here, we have evaluated the risk of CHEK2 1100delC for MBC by genotyping CHEK2 1100delC in 23 familial and 71 unselected Dutch MBC cases. None of the 23 familial MBC cases carried the CHEK2 1100delC mutation. In contrast, CHEK2 1100delC was present in 3 of the 71 (4.2%) unselected MBC cases, which was significantly more prevalent than the 1.1% Dutch population frequency assessed in 1,692 individuals (P = 0.05, OR = 4.1, 95% CI 1.2-14.3). Our data suggest that, in the Netherlands, CHEK2 1100delC is associated with an increased risk for MBC.

AB - Mutations in the breast cancer susceptibility genes BRCA1, BRCA2, and CHEK2 are known risk factors for female breast cancer. Mutations in BRCA1 and BRCA2 also are associated with male breast cancer (MBC). Similarly, it had been suggested in the original CHEK2 identification report that the CHEK2 1100delC mutation confers an increased risk for MBC. Here, we have evaluated the risk of CHEK2 1100delC for MBC by genotyping CHEK2 1100delC in 23 familial and 71 unselected Dutch MBC cases. None of the 23 familial MBC cases carried the CHEK2 1100delC mutation. In contrast, CHEK2 1100delC was present in 3 of the 71 (4.2%) unselected MBC cases, which was significantly more prevalent than the 1.1% Dutch population frequency assessed in 1,692 individuals (P = 0.05, OR = 4.1, 95% CI 1.2-14.3). Our data suggest that, in the Netherlands, CHEK2 1100delC is associated with an increased risk for MBC.

U2 - 10.1007/s10549-008-0162-7

DO - 10.1007/s10549-008-0162-7

M3 - Article

SN - 0167-6806

VL - 116

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EP - 400

JO - Breast Cancer Research and Treatment

JF - Breast Cancer Research and Treatment

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ER -