Literature DB >> 16239104

German populations with infrequent CHEK2*1100delC and minor associations with early-onset and familial breast cancer.

Muhammad U Rashid1, Anna Jakubowska, Christina Justenhoven, Volker Harth, Beate Pesch, Christian Baisch, Christiane B Pierl, Thomas Brüning, Yon Ko, Axel Benner, Heinz-Erich Wichmann, Hiltrud Brauch, Ute Hamann.   

Abstract

CHEK2*1100delC is associated with a twofold increased breast cancer risk. This was shown in a collaborative analysis of European populations, but not in other populations from Europe and the US. Accordingly, there is a need to clarify the role of CHEK2*1100delC in breast cancer. We established its prevalence in two German populations GENICA (Northrhine-Westphalia, n = 724) and KORA (Bavaria, n = 600) and in women with breast cancer. The latter included cases (n = 688) from the GENICA breast cancer case-control study, patients with early-onset breast cancer (n = 86) and patients with familial breast cancer (n = 71). The latter patient groups were previously investigated for BRCA1/2-mutations and tested negative. Mutation analysis was performed by combined PCR/DHPLC methodology. CHEK2*1100delC was found in 0.9% of GENICA controls and was absent in the KORA controls indicating a significant difference between the two populations (P= 0.03). The frequency of CHEK2*1100delC in age-matched cases of the GENICA collection was 0.8% and thus not different from controls (OR 0.88, 95% CI 0.21-3.50). In patients with early-onset disease CHEK2*1100delC was found at a frequency of 2.3% referring to an increased breast cancer risk of 2.56 (95% CI 0.25-14.58). In patients with familial disease the frequency was 1.4% referring to an increased risk of 1.53 (95% CI 0.03-12.93). Our data showed variations in CHEK2*1100delC prevalence within German populations suggesting possible inaccuracies in breast cancer risk assessments from non population-based studies. In patients with a high-risk profile however, CHEK2*1100delC was indicative for this risk and highest for early-onset breast cancer.

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Year:  2005        PMID: 16239104     DOI: 10.1016/j.ejca.2005.04.049

Source DB:  PubMed          Journal:  Eur J Cancer        ISSN: 0959-8049            Impact factor:   9.162


  13 in total

1.  Irrelevance of CHEK2 variants to diagnosis of breast/ovarian cancer predisposition in Polish cohort.

Authors:  Aleksander Myszka; Pawel Karpinski; Ryszard Slezak; Halina Czemarmazowicz; Agnieszka Stembalska; Justyna Gil; Izabela Laczmanska; Damian Bednarczyk; Elzbieta Szmida; Maria Malgorzata Sasiadek
Journal:  J Appl Genet       Date:  2010-12-01       Impact factor: 3.240

2.  Association Between CHEK2*1100delC and Breast Cancer: A Systematic Review and Meta-Analysis.

Authors:  Mingming Liang; Yun Zhang; Chenyu Sun; Feras Kamel Rizeq; Min Min; Tingting Shi; Yehuan Sun
Journal:  Mol Diagn Ther       Date:  2018-08       Impact factor: 4.074

3.  CHEK2*1100delC does not contribute to risk to breast cancer among Malay, Chinese and Indians in Malaysia.

Authors:  Eswary Thirthagiri; Leng San Cheong; Cheng Har Yip; Soo-Hwang Teo
Journal:  Fam Cancer       Date:  2009-04-28       Impact factor: 2.375

4.  Mice with the CHEK2*1100delC SNP are predisposed to cancer with a strong gender bias.

Authors:  El Mustapha Bahassi; Susan B Robbins; Moying Yin; Gregory P Boivin; Raoul Kuiper; Harry van Steeg; Peter J Stambrook
Journal:  Proc Natl Acad Sci U S A       Date:  2009-09-21       Impact factor: 11.205

5.  Frequency of the CHEK2 1100delC mutation among women with early-onset and bilateral breast cancer.

Authors:  Dapeng Ding; Ying Zhang; Xiaofeng He; Wei Meng; Wenli Ma; Wenling Zheng
Journal:  Breast Cancer Res       Date:  2012-04-20       Impact factor: 6.466

6.  The checkpointkinase 2 (CHK2) 1100delC germ line mutation is not associated with the development of squamous cell carcinoma of the head and neck (SCCHN).

Authors:  Kathrin Scheckenbach; Galatia Papadopoulou; Thomas K Hoffmann; Adam Chaker; Henning Bier; Jörg Schipper; Vera Balz; Martin Wagenmann
Journal:  J Negat Results Biomed       Date:  2010-12-25

7.  CHEK2 contribution to hereditary breast cancer in non-BRCA families.

Authors:  Alexis Desrichard; Yannick Bidet; Nancy Uhrhammer; Yves-Jean Bignon
Journal:  Breast Cancer Res       Date:  2011-11-24       Impact factor: 6.466

8.  The CHEK2 1100delC allelic variant is not present in familial and sporadic breast cancer cases from Moroccan population.

Authors:  Chaymaa Marouf; Omar Hajji; Brehima Diakité; Amal Tazzite; Hassan Jouhadi; Abdellatif Benider; Sellama Nadifi
Journal:  Springerplus       Date:  2015-02-01

9.  Family history, genetic testing, and clinical risk prediction: pooled analysis of CHEK2 1100delC in 1,828 bilateral breast cancers and 7,030 controls.

Authors:  Olivia Fletcher; Nichola Johnson; Isabel Dos Santos Silva; Outi Kilpivaara; Kristiina Aittomäki; Carl Blomqvist; Heli Nevanlinna; Marijke Wasielewski; Hanne Meijers-Heijerboer; Annegien Broeks; Marjanka K Schmidt; Laura J Van't Veer; Michael Bremer; Thilo Dörk; Elena V Chekmariova; Anna P Sokolenko; Evgeny N Imyanitov; Ute Hamann; Muhammad U Rashid; Hiltrud Brauch; Christina Justenhoven; Alan Ashworth; Julian Peto
Journal:  Cancer Epidemiol Biomarkers Prev       Date:  2009-01       Impact factor: 4.254

10.  CHEK2 1100delC is prevalent in Swedish early onset familial breast cancer.

Authors:  Sara Margolin; Hans Eiberg; Annika Lindblom; Marie Luise Bisgaard
Journal:  BMC Cancer       Date:  2007-08-17       Impact factor: 4.430

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