Absence of the CHEK2 c.1100delC mutation in familial breast and ovarian cancer in Colombia: a case-control study

Background: BRCA1 and BRCA2 have been identified as high-penetrance breast cancer predisposition genes, but they only account for a small fraction of the inherited component of breast cancer. To explain the remaining cases, a polygenic model with a large number of low- to moderate-penetrance genes h...

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Autores:
Cifuentes Cardona, Laura Fernanda
Rivera Herrera, Ana Lucia
Gil Vera, JA
Barreto, Guillermo
Tipo de recurso:
Article of journal
Fecha de publicación:
2018
Institución:
Universidad Cooperativa de Colombia
Repositorio:
Repositorio UCC
Idioma:
OAI Identifier:
oai:repository.ucc.edu.co:20.500.12494/16000
Acceso en línea:
https://doi.org/10.12688/f1000research.13368.1
https://hdl.handle.net/20.500.12494/16000
Palabra clave:
CHEK2
Familial breast and ovarian cancer
Colombia
CHEK2 c.1100delC
Moderate-penetrance
CHEK2
Familial breast and ovarian cancer
Colombia
CHEK2 c.1100delC
Moderate-penetrance
Rights
openAccess
License
Atribución – No comercial – Sin Derivar
id COOPER2_e8dbe40dd25ffd145f16d240cda21735
oai_identifier_str oai:repository.ucc.edu.co:20.500.12494/16000
network_acronym_str COOPER2
network_name_str Repositorio UCC
repository_id_str
dc.title.spa.fl_str_mv Absence of the CHEK2 c.1100delC mutation in familial breast and ovarian cancer in Colombia: a case-control study
title Absence of the CHEK2 c.1100delC mutation in familial breast and ovarian cancer in Colombia: a case-control study
spellingShingle Absence of the CHEK2 c.1100delC mutation in familial breast and ovarian cancer in Colombia: a case-control study
CHEK2
Familial breast and ovarian cancer
Colombia
CHEK2 c.1100delC
Moderate-penetrance
CHEK2
Familial breast and ovarian cancer
Colombia
CHEK2 c.1100delC
Moderate-penetrance
title_short Absence of the CHEK2 c.1100delC mutation in familial breast and ovarian cancer in Colombia: a case-control study
title_full Absence of the CHEK2 c.1100delC mutation in familial breast and ovarian cancer in Colombia: a case-control study
title_fullStr Absence of the CHEK2 c.1100delC mutation in familial breast and ovarian cancer in Colombia: a case-control study
title_full_unstemmed Absence of the CHEK2 c.1100delC mutation in familial breast and ovarian cancer in Colombia: a case-control study
title_sort Absence of the CHEK2 c.1100delC mutation in familial breast and ovarian cancer in Colombia: a case-control study
dc.creator.fl_str_mv Cifuentes Cardona, Laura Fernanda
Rivera Herrera, Ana Lucia
Gil Vera, JA
Barreto, Guillermo
dc.contributor.author.none.fl_str_mv Cifuentes Cardona, Laura Fernanda
Rivera Herrera, Ana Lucia
Gil Vera, JA
Barreto, Guillermo
dc.subject.spa.fl_str_mv CHEK2
Familial breast and ovarian cancer
Colombia
CHEK2 c.1100delC
Moderate-penetrance
topic CHEK2
Familial breast and ovarian cancer
Colombia
CHEK2 c.1100delC
Moderate-penetrance
CHEK2
Familial breast and ovarian cancer
Colombia
CHEK2 c.1100delC
Moderate-penetrance
dc.subject.other.spa.fl_str_mv CHEK2
Familial breast and ovarian cancer
Colombia
CHEK2 c.1100delC
Moderate-penetrance
description Background: BRCA1 and BRCA2 have been identified as high-penetrance breast cancer predisposition genes, but they only account for a small fraction of the inherited component of breast cancer. To explain the remaining cases, a polygenic model with a large number of low- to moderate-penetrance genes have been proposed; one of these, is the CHEK2 gene (Checkpoint Kinase 2). The objective of this study was to determine the role of the CHEK2 gene, specifically the c.1100delC mutation in familial breast cancer susceptibility in Colombian patients. Methods: We screened 131 high-risk breast and/or ovarian cancer patients (negative for mutations in BRCA1 and BRCA2) and 131 controls for the germline mutation CHEK2 c.1100delC by allele-specific PCR. Results: None of the cases or controls showed the CHEK2 c.1100delC mutation, neither as a homozygote nor as a heterozygote. Conclusions: Our results suggest that the CHEK2 c.1100delC mutation is not a risk factor for genetic susceptibility to familial breast or ovarian cancer in the Colombian population. The absence of the CHEK2 c.1100delC mutation in our population show the importance of considering ethnic background before offering a genetic test.
publishDate 2018
dc.date.issued.none.fl_str_mv 2018-07-09
dc.date.accessioned.none.fl_str_mv 2020-01-16T19:31:48Z
dc.date.available.none.fl_str_mv 2020-01-16T19:31:48Z
dc.type.none.fl_str_mv Artículo
dc.type.coar.fl_str_mv http://purl.org/coar/resource_type/c_2df8fbb1
dc.type.coar.none.fl_str_mv http://purl.org/coar/resource_type/c_6501
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dc.type.driver.none.fl_str_mv info:eu-repo/semantics/article
dc.type.version.none.fl_str_mv info:eu-repo/semantics/publishedVersion
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status_str publishedVersion
dc.identifier.issn.spa.fl_str_mv 2046-1402
dc.identifier.uri.spa.fl_str_mv https://doi.org/10.12688/f1000research.13368.1
dc.identifier.uri.none.fl_str_mv https://hdl.handle.net/20.500.12494/16000
dc.identifier.bibliographicCitation.spa.fl_str_mv Rivera Herrera, A. L., Cifuentes C, L., Gil Vera, J. A., & Barreto, G. (2018). Absence of the CHEK2 c. 1100delC mutation in familial breast and ovarian cancer in Colombia: A case-control study. F1000Research, 7, 1032. Recuperado de:
identifier_str_mv 2046-1402
Rivera Herrera, A. L., Cifuentes C, L., Gil Vera, J. A., & Barreto, G. (2018). Absence of the CHEK2 c. 1100delC mutation in familial breast and ovarian cancer in Colombia: A case-control study. F1000Research, 7, 1032. Recuperado de:
url https://doi.org/10.12688/f1000research.13368.1
https://hdl.handle.net/20.500.12494/16000
dc.relation.isversionof.spa.fl_str_mv https://f1000research.com/articles/7-1032
dc.relation.ispartofjournal.spa.fl_str_mv F1000 Research
dc.relation.references.spa.fl_str_mv 1.Ferlay J, Soerjomataram II, Dikshit R, et al. Cancer incidence and mortality worldwide : sources, methods and major patterns in GLOBOCAN 2012. Int J Cancer. 2012;136(5):E359-E386
2.Miki Y, Swensen J, Shattuck-eidens D, et al. Candidate Ovarian and Breast Susceptibility Gene for the Cancer. Science (80- ). 1994;266:66-71.
3.Wooster R, Bignell G, Lancaster J, et al. Identification of the breast cancer susceptibility gene BRCA2. Nature. 1995;378:789-792.
4.Barnes DR, Antoniou AC. Unravelling modifiers of breast and ovarian cancer risk for BRCA1 and BRCA2 mutation carriers : update on genetic modifiers. J Intern Med. 2012;271:331-343. doi:10.1111/j.1365-2796.2011.02502.x.
5.Easton DF. How many more breast cancer predisposition genes are there ? Breast Cancer Res. 1999;1(1):14-17.
6.Antoniou AC, Pharoah PDP, Mcmullan G, et al. Evidence for Further Breast Cancer Susceptibility Genes in Addition to BRCA1 and BRCA2 in a Population-Based Study. Genet Epidemiol. 2001;21(December 2000):1-18.
7.Antoniou A, Pharoah P, Mcmullan G, et al. A comprehensive model for familial breast cancer incorporating BRCA1, BRCA2 and other genes. Br J Cancer. 2002;86:76-83. doi:10.1038/sj/bjc/6600008.
8.Meijers-heijboer H, van den Ouweland A, Klijn J, et al. Low-penetrance susceptibility to breast cancer due to CHEK2*1100delC in noncarriers of BRCA1 or BRCA2 mutations. Nat Genet. 2002;31:55-59. doi:10.1038/ng879.
9.Bell DW, Varley JM, Szydlo TE, et al. Heterozygous Germ Line hCHK2 Mutations in Li-Fraumeni Syndrome. Science (80- ). 1999;286:2528-2531.
10.Bell DW, Kim SH, Godwin AK, et al. Genetic and functional analysis of CHEK2 (CHK2) variants in multiethnic cohorts. Int J Cancer. 2007; 121(12): 2661–7.
11.CHEK2 Breast Cancer Case-Control Consortium: 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. 2004; 74(6): 1175–82.
12.Cybulski C, Wokolorczyk D, Huzarski T, et al. A deletion in CHEK2 of 5,395 bp predisposes to breast cancer in Poland. Breast Cancer Res Treat. 2007; 102(1): 119–22
13.De Jong MM, van der Graaf W, Nolte IM: Increased CHEK2 1100delC genotype frequency (also) in unselected breast cancer patients. J Clin Oncol. 2004; 22(suppl): 844s.
14.Ghadirian P, Robidoux A, Zhang P, et al. The contribution of founder mutations to early-onset breast cancer in French-Canadian women. Clin Genet. 2009; 76(5): 421–6.
15.Kleibl Z, Novotny J, Bezdickova D, et al. The CHEK2 c.1100delC germline mutation rarely contributes to breast cancer development in the Czech Republic. Breast Cancer Res Treat. 2005; 90(2): 165–7.
16.Offit K, Pierce H, Kirchhoff T, et al. Frequency of CHEK2*1100delC in New York breast cancer cases and controls. BMC Med Genet. 2003; 4: 1.
17.Rashid MU, Jakubowska A, Justenhoven C, et al. German populations with infrequent CHEK2*1100delC and minor associations with early-onset and familial breast cancer. Eur J Cancer. 2005; 41(18): 2896–903.
18.Thompson D, Seal S, Schutte M, et al. A multicenter study of cancer incidence in CHEK2 1100delC mutation carriers. Cancer Epidemiol Biomarkers Prev. 2006; 15(12): 2542–5.
19.Vahteristo P, Bartkova J, Eerola H, et al. A CHEK2 genetic variant contributing to a substantial fraction of familial breast cancer. Am J Hum Genet. 2002; 71(2): 432–8.
20.Weischer M, Bojesen SE, Ellervik C, et al. CHEK2*1100delC genotyping for clinical assessment of breast cancer risk: meta-analyses of 26,000 patient cases and 27,000 controls. J Clin Oncol. 2008; 26(4): 542–8.
21.Weischer M, Bojesen SE, Tybjaerg-Hansen A, et al. Increased risk of breast cancer associated with CHEK2*1100delC. J Clin Oncol. 2007; 25(1): 57–63.
22.Zhang S, Phelan CM, Zhang P, et al. Frequency of the CHEK2 1100delC mutation among women with breast cancer: an international study. Cancer Res. 2008; 68(7): 2154–7.
23.Nagel JHA, Peeters JK, Smid M, Sieuwerts AM, Wasielewski M, de Weerd V. Gene expression profiling assigns CHEK2 1100delC breast cancers to the luminal intrinsic subtypes. Breast Cancer Res Treat. 2012;132:439-448. doi:10.1007/s10549-011-1588-x.
24.Wu DY, Ugozzolit L, Pal BK, Wallace RB. Allele-specific enzymatic amplification of f8-globin genomic DNA for diagnosis of sickle cell anemia. Proc Natl Acad Sci U S A. 1989;86:2757-2760.
25.Rashid MU, Jakubowska A, Justenhoven C, et al. German populations with infrequent CHEK2 * 1100delC and minor associations with early-onset and familial breast cancer. Eur J Cancer. 2005;41:2896-2903. doi:10.1016/j.ejca.2005.04.049.
26.Gonzalez-Hormazabal P, Castro VG, Blanco R, et al. Absence of CHEK2 1100delC mutation in familial breast cancer cases from a South American population. Breast Cancer Res Treat. 2008; 110(3): 543–5.
27.Chaudhury A, Laukaitis C, Mauss C, et al. P3-07-05: Frequent BRCA1 and BRCA2 mutations are found in Mexican and Mexican-American women with breast cancer. Cancer Research. 2013; 73(24_suppl).
28.Abud J, Koehler-Santos P, Ashton-Prolla P, et al. CHEK2 1100DELC germline mutation: a frequency study in hereditary breast and colon cancer Brazilian families. Arq Gastroenterol. 2012; 49(4): 273–8.
29.Palmero EI, Alemar B, Schuler-Faccini L, et al. Screening for germline BRCA1, BRCA2, TP53 and CHEK2 mutations in families at-risk for hereditary breast cancer identified in a population-based study from Southern Brazil. Genet Mol Biol. 2016; 39(2): 210–22.
30.Osorio A, Rodriguez-Lopez R, Diez O, et al. The breast cancer low-penetrance allele 1100delC in the CHEK2 gene is not present in Spanish familial breast cancer population. Int J Cancer. 2004;56:54-56. doi:10.1002/ijc.11414.
31.Sanchez de Abajo A, de la Hoya M, Godino J, et al. The CHEK2 1100delC allele is not relevant for risk assessment in HNPCC and HBCC Spanish families. Fam Cancer. 2005;4:183-186. doi:10.1007/s10689-004-5813-1.
32.Rajkumar T, Soumittra N, Karunakaran Nancy N, et al. BRCA1, BRCA2 and CHEK2 (1100 delC) Germline Mutations in Hereditary Breast and Ovarian Cancer Families in South India. Asian Pac J Cancer Prev. 2003;4:203-208.
33.Song CG, Hu Z, Yuan WT, et al. CHEK2 c.1100delC may not contribute to genetic background of hereditary breast cancer from Shanghai of China. Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2006;23: 443–45.
34.Chen W, Yurong S and Liansheng N. Breast cancer low-penetrance allele 1100delC in the CHEK2 gene: Not present in the Chinese familial breast cancer population. Adv Ther. 2008;25(5): 496–01.
35.Choi DH, Cho DY, Lee MH, et al. The CHEK2 1100delC mutation is not present in Korean patients with breast cancer cases tested for BRCA1 and BRCA2 mutation. Breast Cancer Res Treat. 2008;112:569–73.
36.Lee AS and Ang P. CHEK2*1100delC screening of Asian women with a family history of breast cancer is unwarranted. J Clin Oncol. 2008;26: 2419–20.
37.Qureshi Z, Mahjabeen I, Baig R, et al. Correlation between selected XRCC2, XRCC3 and RAD51 gene polymorphisms and primary breast cancer in women in Pakistan. Asian Pac J Cancer Prev. 2014;15(23):10225-9
38.Thirthagiri E, Cheong LS, Yip CH, et al. CHEK2*1100delC does not contribute to risk to breast cancer among Malay, Chinese and Indians in Malaysia. Fam Cancer. 2009;8(4):355-8
39.Martínez-Bouzas C, Beristain E, Guerra I, et al. CHEK2 1100delC is present in familial breast cancer cases of the Basque Country. Breast Cancer Res Treat. 2007; 103(1): 111–3.
40.Gutiérrez-Enríquez S, de La Hoya M, Martínez-Bouzas C, et al. Screening for large rearrangements of the BRCA2 gene in Spanish families with breast/ovarian cancer. Breast Cancer Res Treat. 2007;103: 103–107
41. Fachal L, Santamariña M, Blanco A, et al. CHEK2 c.1100delC mutation among non-BRCA1/2 Spanish hereditary breast cancer families. Clin Transl Oncol. 2013;15(2):164–5.
42.Vahteristo P, Bartkova J, Eerola H, et al. A CHEK2 genetic variant contributing to a substantial fraction of familial breast cancer. Am J Hum Genet. 2002;71: 432–38.
43.Offit K, Pierce H, Kirchhoff T, et al. Frequency of CHEK2*1100delC in New York breast cancer cases and controls. BMC Medical Genetics. 2003;4:1
44.Mateus-Pereira LH, Sigurdson AJ, Doody MM, et al. CHEK2:1100delC and female breast cancer in the United States. Int J Cancer. 2004;112: 541- 543
45.Friedrichsen DM, Malone KE, Doody DR, et al. Frequency of CHEK2 mutations in a population based, patient case-control study of breast cancer in young women. Breast Cancer Res. 2004:6:R629
46.Rojas W, Parra MV, Campo O, et al. Genetic make-up and structure of Colombian populations by means of uniparental and biparental DNA markers. Am J Phys Anthropol. 2010;143(1):13–20.
47.Marouf C, Hajji O, Diakité B, et al. The CHEK2 1100delC allelic variant is not present in familial and sporadic breast cancer cases from Moroccan population. Springerplus. 2015; 4:38. doi:10.1186/s40064-014-0778-5.
48.Guauque-Olarte S, Rivera-Herrera AL and Cifuentes-C L. Mutations of the CHEK2 gene in patients with cancer and their presence in the Latin American population [version 1]. F1000Research. 2016;5:2791.
49.Rivera-Herrera AL, Cifuentes-C L, Gil-Vera J, et al.: Dataset 1 in: Absence of the CHEK2 c.1100delC mutation in familial breast and ovarian cancer in Colombia: a case-control study. F1000Research. 2018.
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spelling Cifuentes Cardona, Laura FernandaRivera Herrera, Ana LuciaGil Vera, JABarreto, Guillermo72020-01-16T19:31:48Z2020-01-16T19:31:48Z2018-07-092046-1402https://doi.org/10.12688/f1000research.13368.1https://hdl.handle.net/20.500.12494/16000Rivera Herrera, A. L., Cifuentes C, L., Gil Vera, J. A., & Barreto, G. (2018). Absence of the CHEK2 c. 1100delC mutation in familial breast and ovarian cancer in Colombia: A case-control study. F1000Research, 7, 1032. Recuperado de:Background: BRCA1 and BRCA2 have been identified as high-penetrance breast cancer predisposition genes, but they only account for a small fraction of the inherited component of breast cancer. To explain the remaining cases, a polygenic model with a large number of low- to moderate-penetrance genes have been proposed; one of these, is the CHEK2 gene (Checkpoint Kinase 2). The objective of this study was to determine the role of the CHEK2 gene, specifically the c.1100delC mutation in familial breast cancer susceptibility in Colombian patients. Methods: We screened 131 high-risk breast and/or ovarian cancer patients (negative for mutations in BRCA1 and BRCA2) and 131 controls for the germline mutation CHEK2 c.1100delC by allele-specific PCR. Results: None of the cases or controls showed the CHEK2 c.1100delC mutation, neither as a homozygote nor as a heterozygote. Conclusions: Our results suggest that the CHEK2 c.1100delC mutation is not a risk factor for genetic susceptibility to familial breast or ovarian cancer in the Colombian population. The absence of the CHEK2 c.1100delC mutation in our population show the importance of considering ethnic background before offering a genetic test.Background: BRCA1 and BRCA2 have been identified as high-penetrance breast cancer predisposition genes, but they only account for a small fraction of the inherited component of breast cancer. To explain the remaining cases, a polygenic model with a large number of low- to moderate-penetrance genes have been proposed; one of these, is the CHEK2 gene (Checkpoint Kinase 2). The objective of this study was to determine the role of the CHEK2 gene, specifically the c.1100delC mutation in familial breast cancer susceptibility in Colombian patients. Methods: We screened 131 high-risk breast and/or ovarian cancer patients (negative for mutations in BRCA1 and BRCA2) and 131 controls for the germline mutation CHEK2 c.1100delC by allele-specific PCR. Results: None of the cases or controls showed the CHEK2 c.1100delC mutation, neither as a homozygote nor as a heterozygote. Conclusions: Our results suggest that the CHEK2 c.1100delC mutation is not a risk factor for genetic susceptibility to familial breast or ovarian cancer in the Colombian population. The absence of the CHEK2 c.1100delC mutation in our population show the importance of considering ethnic background before offering a genetic test.https://scienti.minciencias.gov.co/cvlac/visualizador/generarCurriculoCv.do?cod_rh=00002608190000-0001-7013-1952https://scienti.minciencias.gov.co/gruplac/jsp/visualiza/visualizagr.jsp?nro=00000000002911laura.cifuentesc@campusucc.edu.cohttps://scholar.google.com/citations?user=MKqJTTAAAAAJ&hl=en6Universidad Cooperativa de Colombia, Facultad de Ciencias de la Salud, Odontología, PastoOdontologíaPastohttps://f1000research.com/articles/7-1032F1000 Research1.Ferlay J, Soerjomataram II, Dikshit R, et al. Cancer incidence and mortality worldwide : sources, methods and major patterns in GLOBOCAN 2012. Int J Cancer. 2012;136(5):E359-E3862.Miki Y, Swensen J, Shattuck-eidens D, et al. Candidate Ovarian and Breast Susceptibility Gene for the Cancer. Science (80- ). 1994;266:66-71.3.Wooster R, Bignell G, Lancaster J, et al. Identification of the breast cancer susceptibility gene BRCA2. Nature. 1995;378:789-792.4.Barnes DR, Antoniou AC. Unravelling modifiers of breast and ovarian cancer risk for BRCA1 and BRCA2 mutation carriers : update on genetic modifiers. J Intern Med. 2012;271:331-343. doi:10.1111/j.1365-2796.2011.02502.x.5.Easton DF. How many more breast cancer predisposition genes are there ? Breast Cancer Res. 1999;1(1):14-17.6.Antoniou AC, Pharoah PDP, Mcmullan G, et al. Evidence for Further Breast Cancer Susceptibility Genes in Addition to BRCA1 and BRCA2 in a Population-Based Study. Genet Epidemiol. 2001;21(December 2000):1-18.7.Antoniou A, Pharoah P, Mcmullan G, et al. A comprehensive model for familial breast cancer incorporating BRCA1, BRCA2 and other genes. Br J Cancer. 2002;86:76-83. doi:10.1038/sj/bjc/6600008.8.Meijers-heijboer H, van den Ouweland A, Klijn J, et al. Low-penetrance susceptibility to breast cancer due to CHEK2*1100delC in noncarriers of BRCA1 or BRCA2 mutations. Nat Genet. 2002;31:55-59. doi:10.1038/ng879.9.Bell DW, Varley JM, Szydlo TE, et al. Heterozygous Germ Line hCHK2 Mutations in Li-Fraumeni Syndrome. Science (80- ). 1999;286:2528-2531.10.Bell DW, Kim SH, Godwin AK, et al. Genetic and functional analysis of CHEK2 (CHK2) variants in multiethnic cohorts. Int J Cancer. 2007; 121(12): 2661–7.11.CHEK2 Breast Cancer Case-Control Consortium: 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. 2004; 74(6): 1175–82.12.Cybulski C, Wokolorczyk D, Huzarski T, et al. A deletion in CHEK2 of 5,395 bp predisposes to breast cancer in Poland. Breast Cancer Res Treat. 2007; 102(1): 119–2213.De Jong MM, van der Graaf W, Nolte IM: Increased CHEK2 1100delC genotype frequency (also) in unselected breast cancer patients. J Clin Oncol. 2004; 22(suppl): 844s.14.Ghadirian P, Robidoux A, Zhang P, et al. The contribution of founder mutations to early-onset breast cancer in French-Canadian women. Clin Genet. 2009; 76(5): 421–6.15.Kleibl Z, Novotny J, Bezdickova D, et al. The CHEK2 c.1100delC germline mutation rarely contributes to breast cancer development in the Czech Republic. Breast Cancer Res Treat. 2005; 90(2): 165–7.16.Offit K, Pierce H, Kirchhoff T, et al. Frequency of CHEK2*1100delC in New York breast cancer cases and controls. BMC Med Genet. 2003; 4: 1.17.Rashid MU, Jakubowska A, Justenhoven C, et al. German populations with infrequent CHEK2*1100delC and minor associations with early-onset and familial breast cancer. Eur J Cancer. 2005; 41(18): 2896–903.18.Thompson D, Seal S, Schutte M, et al. A multicenter study of cancer incidence in CHEK2 1100delC mutation carriers. Cancer Epidemiol Biomarkers Prev. 2006; 15(12): 2542–5.19.Vahteristo P, Bartkova J, Eerola H, et al. A CHEK2 genetic variant contributing to a substantial fraction of familial breast cancer. Am J Hum Genet. 2002; 71(2): 432–8.20.Weischer M, Bojesen SE, Ellervik C, et al. CHEK2*1100delC genotyping for clinical assessment of breast cancer risk: meta-analyses of 26,000 patient cases and 27,000 controls. J Clin Oncol. 2008; 26(4): 542–8.21.Weischer M, Bojesen SE, Tybjaerg-Hansen A, et al. Increased risk of breast cancer associated with CHEK2*1100delC. J Clin Oncol. 2007; 25(1): 57–63.22.Zhang S, Phelan CM, Zhang P, et al. Frequency of the CHEK2 1100delC mutation among women with breast cancer: an international study. Cancer Res. 2008; 68(7): 2154–7.23.Nagel JHA, Peeters JK, Smid M, Sieuwerts AM, Wasielewski M, de Weerd V. Gene expression profiling assigns CHEK2 1100delC breast cancers to the luminal intrinsic subtypes. Breast Cancer Res Treat. 2012;132:439-448. doi:10.1007/s10549-011-1588-x.24.Wu DY, Ugozzolit L, Pal BK, Wallace RB. Allele-specific enzymatic amplification of f8-globin genomic DNA for diagnosis of sickle cell anemia. Proc Natl Acad Sci U S A. 1989;86:2757-2760.25.Rashid MU, Jakubowska A, Justenhoven C, et al. German populations with infrequent CHEK2 * 1100delC and minor associations with early-onset and familial breast cancer. Eur J Cancer. 2005;41:2896-2903. doi:10.1016/j.ejca.2005.04.049.26.Gonzalez-Hormazabal P, Castro VG, Blanco R, et al. Absence of CHEK2 1100delC mutation in familial breast cancer cases from a South American population. Breast Cancer Res Treat. 2008; 110(3): 543–5.27.Chaudhury A, Laukaitis C, Mauss C, et al. P3-07-05: Frequent BRCA1 and BRCA2 mutations are found in Mexican and Mexican-American women with breast cancer. 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Correlation between selected XRCC2, XRCC3 and RAD51 gene polymorphisms and primary breast cancer in women in Pakistan. Asian Pac J Cancer Prev. 2014;15(23):10225-938.Thirthagiri E, Cheong LS, Yip CH, et al. CHEK2*1100delC does not contribute to risk to breast cancer among Malay, Chinese and Indians in Malaysia. Fam Cancer. 2009;8(4):355-839.Martínez-Bouzas C, Beristain E, Guerra I, et al. CHEK2 1100delC is present in familial breast cancer cases of the Basque Country. Breast Cancer Res Treat. 2007; 103(1): 111–3.40.Gutiérrez-Enríquez S, de La Hoya M, Martínez-Bouzas C, et al. Screening for large rearrangements of the BRCA2 gene in Spanish families with breast/ovarian cancer. Breast Cancer Res Treat. 2007;103: 103–10741. Fachal L, Santamariña M, Blanco A, et al. CHEK2 c.1100delC mutation among non-BRCA1/2 Spanish hereditary breast cancer families. Clin Transl Oncol. 2013;15(2):164–5.42.Vahteristo P, Bartkova J, Eerola H, et al. A CHEK2 genetic variant contributing to a substantial fraction of familial breast cancer. Am J Hum Genet. 2002;71: 432–38.43.Offit K, Pierce H, Kirchhoff T, et al. Frequency of CHEK2*1100delC in New York breast cancer cases and controls. BMC Medical Genetics. 2003;4:144.Mateus-Pereira LH, Sigurdson AJ, Doody MM, et al. CHEK2:1100delC and female breast cancer in the United States. Int J Cancer. 2004;112: 541- 54345.Friedrichsen DM, Malone KE, Doody DR, et al. Frequency of CHEK2 mutations in a population based, patient case-control study of breast cancer in young women. Breast Cancer Res. 2004:6:R62946.Rojas W, Parra MV, Campo O, et al. Genetic make-up and structure of Colombian populations by means of uniparental and biparental DNA markers. Am J Phys Anthropol. 2010;143(1):13–20.47.Marouf C, Hajji O, Diakité B, et al. The CHEK2 1100delC allelic variant is not present in familial and sporadic breast cancer cases from Moroccan population. 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