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Breast Cancer Research and Treatment

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01-02-2008 | Letter to the Editor

Detection of the CHEK2 1100delC mutation by MLPA BRCA1/2 analysis: a worthwhile strategy for its clinical applicability in 1100delC low-frequency populations?

Authors: Sara Gutiérrez-Enríquez, Judith Balmaña, Montserrat Baiget, Orland Díez

Published in: Breast Cancer Research and Treatment | Issue 3/2008

Excerpt

Dear Editor, …

Martínez-Bouzas C, Beristain E, Guerra I et al (2007) CHEK2 1100delC is present in familial breast cancer cases of the Basque Country. Breast Cancer Res Treat, doi: 10.1007/s10549-006-9351-4

Meijers-Heijboer H, van den Ouweland A, Klijn J et al (2002) Low-penetrance susceptibility to breast cancer due to CHEK2(*)1100delC in noncarriers of BRCA1 or BRCA2 mutations. Nat Genet 31:55–59PubMedCrossRef

Weischer M, Bojesen SE, Tybjaerg-Hansen A et al (2007) Increased risk of breast cancer associated with CHEK2*1100delC. J Clin Oncol 25:57–63PubMedCrossRef

Vahteristo P, Bartkova J, Eerola H et al (2002) A CHEK2 genetic variant contributing to a substantial fraction of familial breast cancer. Am J Hum Genet 71:432–438PubMedCrossRef

Schmidt MK, Tollenaar RA, de Kemp SR et al (2007) Breast cancer survival and tumor characteristics in premenopausal women carrying the CHEK2*1100delC germline mutation. J Clin Oncol 25:64–69PubMedCrossRef

Thompson D, Seal S, Schutte M et al (2006) A multicenter study of cancer incidence in CHEK2 1100delC mutation carriers. Cancer Epidemiol Biomarkers Prev 15:2542–2545PubMedCrossRef

CHEK2 Breast Cancer Case-Control Consortium (2004) CHEK2*1100delC and susceptibility to breast cancer: a collaborative analysis involving 10,860 breast cancer cases and 9,065 controls from 10 studies. Am J Hum Genet 74:1175–1182

Friedrichsen DM, Malone KE, Doody DR et al (2004) Frequency of CHEK2 mutations in a population based, case-control study of breast cancer in young women. Breast Cancer Res 6:R629–R635PubMedCrossRef

Nevanlinna H, Bartek J (2006) The CHEK2 gene and inherited breast cancer susceptibility. Oncogene 25:5912–5919PubMedCrossRef

10.

Osorio A, Rodríguez-López R, Diez O et al (2004) The breast cancer low-penetrance allele 1100delC in the CHEK2 gene is not present in Spanish familial breast cancer population. Int J Cancer 108:54–56PubMedCrossRef

11.

Bellosillo B, Tusquests I, Longaron R et al (2005) Absence of CHEK2 mutations in Spanish families with hereditary breast cancer. Cancer Genet Cytogenet 161:93–95PubMedCrossRef

12.

Sanchez de Abajo A, de la Hoya M, Godino J et al (2005) The CHEK2 1100delC allele is not relevant for risk assessment in HNPCC and HBCC Spanish families. Fam Cancer 4:183–186CrossRef

13.

Gutiérrez-Enríquez S, Díez O, de la Hoya M et al (2007) Screening for large rearrangements of the BRCA2 gene in n Spanish breast/ovarian cancer families. Breast Cancer Res Treat, doi: 10.1007/s10549-006-9376-8

Title: Detection of the CHEK2 1100delC mutation by MLPA BRCA1/2 analysis: a worthwhile strategy for its clinical applicability in 1100delC low-frequency populations?
Authors: Sara Gutiérrez-Enríquez
Judith Balmaña
Montserrat Baiget
Orland Díez
Publication date: 01-02-2008
Publisher: Springer US
Published in: Breast Cancer Research and Treatment / Issue 3/2008
Print ISSN: 0167-6806
Electronic ISSN: 1573-7217
DOI: https://doi.org/10.1007/s10549-007-9555-2

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