Literature DB >> 15803363

The CHEK2 c.1100delC germline mutation rarely contributes to breast cancer development in the Czech Republic.

Zdenek Kleibl1, Jan Novotny, Drahomira Bezdickova, Radek Malik, Petra Kleiblova, Lenka Foretova, Lubos Petruzelka, Denisa Ilencikova, Petr Cinek, Petr Pohlreich.   

Abstract

In this study we performed the CHEK2 c.1100delC mutation analysis in 1046 breast cancer patients and 730 unaffected control individuals. The mutated allele was found in 3 out of 688 unselected sporadic breast cancer patients and in 1 out of 358 familial/early onset breast cancer patients. Two mutations were identified in a cohort of 730 controls. Our results support the finding that frequency of CHEK2 c.1100delC mutation varies among different populations. Based on our results, genotyping of CHEK2 c.1100delC mutation in clinical settings in the Czech Republic could not be recommended.

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Year:  2005        PMID: 15803363     DOI: 10.1007/s10549-004-4023-8

Source DB:  PubMed          Journal:  Breast Cancer Res Treat        ISSN: 0167-6806            Impact factor:   4.872


  11 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 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

4.  Mutation Analysis of the RAD51C and RAD51D Genes in High-Risk Ovarian Cancer Patients and Families from the Czech Republic.

Authors:  Marketa Janatova; Jana Soukupova; Jana Stribrna; Petra Kleiblova; Michal Vocka; Petra Boudova; Zdenek Kleibl; Petr Pohlreich
Journal:  PLoS One       Date:  2015-06-09       Impact factor: 3.240

5.  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

6.  Low prevalence of CHEK2 gene mutations in multiethnic cohorts of breast cancer patients in Malaysia.

Authors:  Suriati Mohamad; Nurismah Md Isa; Rohaizak Muhammad; Nor Aina Emran; Nor Mayah Kitan; Peter Kang; In Nee Kang; Nur Aishah Mohd Taib; Soo Hwang Teo; Sharifah Noor Akmal
Journal:  PLoS One       Date:  2015-01-28       Impact factor: 3.240

7.  Association between CHEK2 H371Y mutation and response to neoadjuvant chemotherapy in women with breast cancer.

Authors:  Yin Liu; Ye Xu; Tao Ouyang; Jinfeng Li; Tianfeng Wang; Zhaoqing Fan; Tie Fan; Benyao Lin; Yuntao Xie
Journal:  BMC Cancer       Date:  2015-03-28       Impact factor: 4.430

8.  Clinical relevance of CHEK2 and NBN mutations in the macedonian population.

Authors:  I Maleva Kostovska; M Jakimovska; K Kubelka-Sabit; M Karadjozov; A Arsovski; L Stojanovska; D Plaseska-Karanfilska
Journal:  Balkan J Med Genet       Date:  2015-12-30       Impact factor: 0.519

9.  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

10.  Identification of a novel CHEK2 variant and assessment of its contribution to the risk of breast cancer in French Canadian women.

Authors:  David J Novak; Long Qi Chen; Parviz Ghadirian; Nancy Hamel; Phil Zhang; Vanessa Rossiny; Guy Cardinal; André Robidoux; Patricia N Tonin; Francois Rousseau; Steven A Narod; William D Foulkes
Journal:  BMC Cancer       Date:  2008-08-15       Impact factor: 4.430

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