Skip to main content
Key Specialties
Cardiology Diabetology Endocrinology Gastroenterology Geriatrics and Gerontology Gynecology and Obstetrics Hematology Infectious Disease Internal Medicine Nephrology Neurology Oncology Pediatrics Respiratory Medicine Rheumatology Surgery
Congress Coverage
2024 ACC Congress 2023 ESMO Congress 2023 EASD Congress 2023 ERS Congress 2023 ESC Congress
Clinical Collections
Advances in Alzheimer’s

Keynote webinar | Spotlight on medication adherence

LIVE: Thursday 27th June 2024, 18:00-19:30 (CEST)
Join our expert panel to discover why you need to understand the drivers of non-adherence in your patients, and how you can optimize medication adherence in your clinics to drastically improve patient outcomes.
ADVANCED SEARCH
Log in
Top
Breast Cancer Research
Published in: Breast Cancer Research 6/2011

Open Access 01-12-2011 | Research article

CHEK2 contribution to hereditary breast cancer in non-BRCAfamilies

Authors: Alexis Desrichard, Yannick Bidet, Nancy Uhrhammer, Yves-Jean Bignon

Published in: Breast Cancer Research | Issue 6/2011

Login to get access

Abstract

Background

Mutations in the BRCA1 and BRCA2 genes are responsible for only a part of hereditary breast cancer (HBC). The origins of "non-BRCA" HBC in families may be attributed in part to rare mutations in genes conferring moderate risk, such as CHEK2, which encodes for an upstream regulator of BRCA1. Previous studies have demonstrated an association between CHEK2 founder mutations and non-BRCA HBC. However, very few data on the entire coding sequence of this gene are available.

Methods

We investigated the contribution of CHEK2 mutations to non-BRCA HBC by direct sequencing of its whole coding sequence in 507 non-BRCA HBC cases and 513 controls.

Results

We observed 16 mutations in cases and 4 in controls, including 9 missense variants of uncertain consequence. Using both in silico tools and an in vitro kinase activity test, the majority of the variants were found likely to be deleterious for protein function. One variant present in both cases and controls was proposed to be neutral. Removing this variant from the pool of potentially deleterious variants gave a mutation frequency of 1.48% for cases and 0.29% for controls (P = 0.0040). The odds ratio of breast cancer in the presence of a deleterious CHEK2 mutation was 5.18.

Conclusions

Our work indicates that a variety of deleterious CHEK2 alleles make an appreciable contribution to breast cancer susceptibility, and their identification could help in the clinical management of patients carrying a CHEK2 mutation.
Appendix
Available only for authorised users
Literature
1.
Panda S, Isbatan A, Adami GR: Modification of the ATM/ATR directed DNA damage response state with aging and long after hepatocyte senescence induction in vivo. Mech Ageing Dev. 2008, 129: 332-340. 10.1016/j.mad.2008.02.014.CrossRefPubMedPubMedCentral
2.
Rahman N, Seal S, Thompson D, Kelly P, Renwick A, Elliott A, Reid S, Spanova K, Barfoot R, Chagtai T, Jayatilake H, McGuffog L, Hanks S, Evans DG, Eccles D, Breast Cancer Susceptibility Collaboration (UK), Easton DF, Stratton MR: PALB2, which encodes a BRCA2-interacting protein, is a breast cancer susceptibility gene. Nat Genet. 2007, 39: 165-167. 10.1038/ng1959.CrossRefPubMed
3.
Meijers-Heijboer H, van den Ouweland A, Klijn J, Wasielewski M, de Snoo A, Oldenburg R, Hollestelle A, Houben M, Crepin E, van Veghel-Plandsoen M, Elstrodt F, van Duijn C, Bartels C, Meijers C, Schutte M, McGuffog L, Thompson D, Easton D, Sodha N, Seal S, Barfoot R, Mangion J, Chang-Claude J, Eccles D, Eeles R, Evans DG, Houlston R, Murday V, Narod S, Peretz T, Peto J, Phelan C, Zhang HX, Szabo C, Devilee P, Goldgar D, Futreal PA, Nathanson KL, Weber B, Rahman N, Stratton MR, CHEK2-Breast Cancer Consortium: Low-penetrance susceptibility to breast cancer due to CHEK2*1100delC in noncarriers of BRCA1 or BRCA2 mutations. Nat Genet. 2002, 31: 55-59. 10.1038/ng879.CrossRefPubMed
4.
Renwick A, Thompson D, Seal S, Kelly P, Chagtai T, Ahmed M, North B, Jayatilake H, Barfoot R, Spanova K, McGuffog L, Evans DG, Eccles D, Breast Cancer Susceptibility Collaboration (UK), Easton DF, Stratton MR, Rahman N: ATM mutations that cause ataxia-telangiectasia are breast cancer susceptibility alleles. Nat Genet. 2006, 38: 873-875. 10.1038/ng1837.CrossRefPubMed
5.
Seal S, Thompson D, Renwick A, Elliott A, Kelly P, Barfoot R, Chagtai T, Jayatilake H, Ahmed M, Spanova K, North B, McGuffog L, Evans DG, Eccles D, Breast Cancer Susceptibility Collaboration (UK), Easton DF, Stratton MR, Rahman N: Truncating mutations in the Fanconi anemia J gene BRIP1 are low-penetrance breast cancer susceptibility alleles. Nat Genet. 2006, 38: 1239-1241. 10.1038/ng1902.CrossRefPubMed
6.
Antoniou AC, Pharoah PD, McMullan G, Day NE, Ponder BA, Easton D: Evidence for further breast cancer susceptibility genes in addition to BRCA1 and BRCA2 in a population-based study. Genet Epidemiol. 2001, 21: 1-18. 10.1002/gepi.1014.CrossRefPubMed
7.
8.
Antoniou AC, Pharoah PD, McMullan G, Day NE, Stratton MR, Peto J, Ponder BJ, Easton DF: A comprehensive model for familial breast cancer incorporating BRCA1, BRCA2 and other genes. Br J Cancer. 2002, 86: 76-83. 10.1038/sj.bjc.6600008.CrossRefPubMedPubMedCentral
9.
Pharoah PD, Antoniou A, Bobrow M, Zimmern RL, Easton DF, Ponder BA: Polygenic susceptibility to breast cancer and implications for prevention. Nat Genet. 2002, 31: 33-36. 10.1038/ng853.CrossRefPubMed
10.
Sodha N, Houlston RS, Bullock S, Yuille MA, Chu C, Turner G, Eeles RA: Increasing evidence that germline mutations in CHEK2 do not cause Li-Fraumeni syndrome. Hum Mutat. 2002, 20: 460-462. 10.1002/humu.10136.CrossRefPubMed
11.
Bartek J, Falck J, Lukas J: Chk2 kinase: a busy messenger. Nat Rev Mol Cell Biol. 2001, 2: 877-886. 10.1038/35103059.CrossRefPubMed
12.
Matsuoka S, Huang M, Elledge SJ: Linkage of ATM to cell cycle regulation by the Chk2 protein kinase. Science. 1998, 282: 1893-1897.CrossRefPubMed
13.
Ahn JY, Li X, Davis HL, Canman CE: Phosphorylation of threonine 68 promotes oligomerization and autophosphorylation of the Chk2 protein kinase via the Forkhead-associated domain. J Biol Chem. 2002, 277: 19389-19395. 10.1074/jbc.M200822200.CrossRefPubMed
14.
Lee JS, Collins KM, Brown AL, Lee CH, Chung JH: hCds1-mediated phosphorylation of BRCA1 regulates the DNA damage response. Nature. 2000, 404: 201-204. 10.1038/35004614.CrossRefPubMed
15.
Falck J, Mailand N, Syljuåsen RG, Bartek J, Lukas J: The ATM-Chk2-Cdc25A checkpoint pathway guards against radioresistant DNA synthesis. Nature. 2001, 410: 842-847. 10.1038/35071124.CrossRefPubMed
16.
Falck J, Petrini JH, Williams BR, Lukas J, Bartek J: The DNA damage-dependent intra-S phase checkpoint is regulated by parallel pathways. Nat Genet. 2002, 30: 290-294. 10.1038/ng845.CrossRefPubMed
17.
Bartek J, Lukas J: Chk1 and Chk2 kinases in checkpoint control and cancer. Cancer Cell. 2003, 3: 421-429. 10.1016/S1535-6108(03)00110-7.CrossRefPubMed
18.
Bell DW, Varley JM, Szydlo TE, Kang DH, Wahrer DC, Shannon KE, Lubratovich M, Verselis SJ, Isselbacher KJ, Fraumeni JF, Birch JM, Li FP, Garber JE, Haber DA: Heterozygous germ line hCHK2 mutations in Li-Fraumeni syndrome. Science. 1999, 286: 2528-2531. 10.1126/science.286.5449.2528.CrossRefPubMed
19.
Vahteristo P, Bartkova J, Eerola H, Syrjäkoski K, Ojala S, Kilpivaara O, Tamminen A, Kononen J, Aittomäki K, Heikkilä P, Holli K, Blomqvist C, Bartek J, Kallioniemi OP, Nevanlinna H: A CHEK2 genetic variant contributing to a substantial fraction of familial breast cancer. Am J Hum Genet. 2002, 71: 432-438. 10.1086/341943.CrossRefPubMedPubMedCentral
20.
Kilpivaara O, Vahteristo P, Falck J, Syrjäkoski K, Eerola H, Easton D, Bartkova J, Lukas J, Heikkilä P, Aittomäki K, Holli K, Blomqvist C, Kallioniemi OP, Bartek J, Nevanlinna H: CHEK2 variant I157T may be associated with increased breast cancer risk. Int J Cancer. 2004, 111: 543-547. 10.1002/ijc.20299.CrossRefPubMed
21.
Staalesen V, Falck J, Geisler S, Bartkova J, Børresen-Dale AL, Lukas J, Lillehaug JR, Bartek J, Lønning PE: Alternative splicing and mutation status of CHEK2 in stage III breast cancer. Oncogene. 2004, 23: 8535-8544. 10.1038/sj.onc.1207928.CrossRefPubMed
22.
Bell DW, Kim SH, Godwin AK, Schiripo TA, Harris PL, Haserlat SM, Wahrer DC, Haiman CA, Daly MB, Niendorf KB, Smith MR, Sgroi DC, Garber JE, Olopade OI, Le Marchand L, Henderson BE, Altshuler D, Haber DA, Freedman ML: Genetic and functional analysis of CHEK2 (CHK2) variants in multiethnic cohorts. Int J Cancer. 2007, 121: 2661-2667. 10.1002/ijc.23026.CrossRefPubMedPubMedCentral
23.
Le Calvez-Kelm F, Lesueur F, Damiola F, Vallée M, Voegele C, Babikyan D, Durand G, Forey N, McKay-Chopin S, Robinot N, Nguyen-Dumont T, Thomas A, Byrnes GB, Breast Cancer Family Registry, Hopper JL, Southey MC, Andrulis IL, John EM, Tavtigian SV: Rare, evolutionarily unlikely missense substitutions in CHEK2 contribute to breast cancer susceptibility: results from a breast cancer family registry case-control mutation-screening study. Breast Cancer Res. 2011, 13: R6-10.1186/bcr2810.CrossRefPubMedPubMedCentral
24.
Dufault MR, Betz B, Wappenschmidt B, Hofmann W, Bandick K, Golla A, Pietschmann A, Nestle-Krämling C, Rhiem K, Hüttner C, von Lindern C, Dall P, Kiechle M, Untch M, Jonat W, Meindl A, Scherneck S, Niederacher D, Schmutzler RK, Arnold N: Limited relevance of the CHEK2 gene in hereditary breast cancer. Int J Cancer. 2004, 110: 320-325. 10.1002/ijc.20073.CrossRefPubMed
25.
Kleibl Z, Novotny J, Bezdickova D, Malik R, Kleiblova P, Foretova L, Petruzelka L, Ilencikova D, Cinek P, Pohlreich P: The CHEK2 c.1100delC germline mutation rarely contributes to breast cancer development in the Czech Republic. Breast Cancer Res Treat. 2005, 90: 165-167. 10.1007/s10549-004-4023-8.CrossRefPubMed
26.
Schwarz JK, Lovly CM, Piwnica-Worms H: Regulation of the Chk2 protein kinase by oligomerization-mediated cis- and trans-phosphorylation. Mol Cancer Res. 2003, 1: 598-609.PubMed
27.
Sodha N, Mantoni TS, Tavtigian SV, Eeles R, Garrett MD: Rare germ line CHEK2 variants identified in breast cancer families encode proteins that show impaired activation. Cancer Res. 2006, 66: 8966-8970. 10.1158/0008-5472.CAN-06-1990.CrossRefPubMed
28.
Delort L, Kwiatkowski F, Chalabi N, Satih S, Bignon YJ, Bernard-Gallon DJ: Risk factors for early age at breast cancer onset: the "COSA program" population-based study. Anticancer Res. 2007, 27: 1087-1094.PubMed
29.
30.
Sodha N, Houlston RS, Williams R, Yuille MA, Mangion J, Eeles RA: A robust method for detecting CHK2/RAD53 mutations in genomic DNA. Hum Mutat. 2002, 19: 173-177. 10.1002/humu.10031.CrossRefPubMed
31.
Sunyaev S, Ramensky V, Bork P: Towards a structural basis of human non-synonymous single nucleotide polymorphisms. Trends Genet. 2000, 16: 198-200. 10.1016/S0168-9525(00)01988-0.CrossRefPubMed
32.
Tavtigian SV, Deffenbaugh AM, Yin L, Judkins T, Scholl T, Samollow PB, de Silva D, Zharkikh A, Thomas A: Comprehensive statistical study of 452 BRCA1 missense substitutions with classification of eight recurrent substitutions as neutral. J Med Genet. 2006, 43: 295-305.CrossRefPubMed
33.
Mathe E, Olivier M, Kato S, Ishioka C, Hainaut P, Tavtigian SV: Computational approaches for predicting the biological effect of p53 missense mutations: a comparison of three sequence analysis based methods. Nucleic Acids Res. 2006, 34: 1317-1325. 10.1093/nar/gkj518.CrossRefPubMedPubMedCentral
34.
35.
36.
37.
Adzhubei IA, Schmidt S, Peshkin L, Ramensky VE, Gerasimova A, Bork P, Kondrashov AS, Sunyaev SR: A method and server for predicting damaging missense mutations. Nat Methods. 2010, 7: 248-249. 10.1038/nmeth0410-248.CrossRefPubMedPubMedCentral
38.
Pertea M, Lin X, Salzberg SL: GeneSplicer: a new computational method for splice site prediction. Nucleic Acids Res. 2001, 29: 1185-1190. 10.1093/nar/29.5.1185.CrossRefPubMedPubMedCentral
39.
Yeo G, Burge CB: Maximum entropy modeling of short sequence motifs with applications to RNA splicing signals. J Comput Biol. 2004, 11: 377-394. 10.1089/1066527041410418.CrossRefPubMed
40.
Desmet FO, Hamroun D, Lalande M, Collod-Béroud G, Claustres M, Béroud C: Human Splicing Finder: an online bioinformatics tool to predict splicing signals. Nucleic Acids Res. 2009, 37: e67-10.1093/nar/gkp215.CrossRefPubMedPubMedCentral
41.
Miller CW, Ikezoe T, Krug U, Hofmann WK, Tavor S, Vegesna V, Tsukasaki K, Takeuchi S, Koeffler HP: Mutations of the CHK2 gene are found in some osteosarcomas, but are rare in breast, lung, and ovarian tumors. Genes Chromosomes Cancer. 2002, 33: 17-21. 10.1002/gcc.1207.CrossRefPubMed
42.
Shults MD, Janes KA, Lauffenburger DA, Imperiali B: A multiplexed homogeneous fluorescence-based assay for protein kinase activity in cell lysates. Nat Methods. 2005, 2: 277-283. 10.1038/nmeth747.CrossRefPubMed
43.
Bogdanova N, Enssen-Dubrowinskaja N, Feshchenko S, Lazjuk GI, Rogov YI, Dammann O, Bremer M, Karstens JH, Sohn C, Dörk T: Association of two mutations in the CHEK2 gene with breast cancer. Int J Cancer. 2005, 116: 263-266. 10.1002/ijc.21022.CrossRefPubMed
44.
Cybulski C, Górski B, Huzarski T, Masojć B, Mierzejewski M, Debniak T, Teodorczyk U, Byrski T, Gronwald J, Matyjasik J, Zlowocka E, Lenner M, Grabowska E, Nej K, Castaneda J, Medrek K, Szymańska A, Szymańska J, Kurzawski G, Suchy J, Oszurek O, Witek A, Narod SA, Lubiński J: CHEK2 is a multiorgan cancer susceptibility gene. Am J Hum Genet. 2004, 75: 1131-1135. 10.1086/426403.CrossRefPubMedPubMedCentral
45.
Osorio A, Rodríguez-López R, Díez O, de la Hoya M, Ignacio Martínez J, Vega A, Esteban-Cardeñosa E, Alonso C, Caldés T, Benítez J: The breast cancer low-penetrance allele 1100delC in the CHEK2 gene is not present in Spanish familial breast cancer population. Int J Cancer. 2004, 108: 54-56. 10.1002/ijc.11414.CrossRefPubMed
46.
Lee AS, Ang P: CHEK2*1100delC screening of Asian women with a family history of breast cancer is unwarranted. J Clin Oncol. 2008, 26: 2419-2420.CrossRefPubMed
47.
Zhang S, Phelan CM, Zhang P, Rousseau F, Ghadirian P, Robidoux A, Foulkes W, Hamel N, McCready D, Trudeau M, Lynch H, Horsman D, De Matsuda ML, Aziz Z, Gomes M, Costa MM, Liede A, Poll A, Sun P, Narod SA: Frequency of the CHEK2 1100delC mutation among women with breast cancer: an international study. Cancer Res. 2008, 68: 2154-2157. 10.1158/0008-5472.CAN-07-5187.CrossRefPubMed
48.
Narod SA: Testing for CHEK2 in the cancer genetics clinic: ready for prime time?. Clin Genet. 2010, 78: 1-7.CrossRefPubMed
49.
Dong X, Wang L, Taniguchi K, Wang X, Cunningham JM, McDonnell SK, Qian C, Marks AF, Slager SL, Peterson BJ, Smith DI, Cheville JC, Blute ML, Jacobsen SJ, Schaid DJ, Tindall DJ, Thibodeau SN, Liu W: Mutations in CHEK2 associated with prostate cancer risk. Am J Hum Genet. 2003, 72: 270-280. 10.1086/346094.CrossRefPubMedPubMedCentral
50.
Baeyens A, Claes K, Willems P, De Ruyck K, Thierens H, Vral A: Chromosomal radiosensitivity of breast cancer with a CHEK2 mutation. Cancer Genet Cytogenet. 2005, 163: 106-112. 10.1016/j.cancergencyto.2005.04.017.CrossRefPubMed
51.
de Bock GH, Schutte M, Krol-Warmerdam EM, Seynaeve C, Blom J, Brekelmans CT, Meijers-Heijboer H, van Asperen CJ, Cornelisse CJ, Devilee P, Tollenaar RA, Klijn JG: Tumour characteristics and prognosis of breast cancer patients carrying the germline CHEK2*1100delC variant. J Med Genet. 2004, 41: 731-735. 10.1136/jmg.2004.019737.CrossRefPubMedPubMedCentral
52.
Mateus Pereira LH, Sigurdson AJ, Doody MM, Pineda MA, Alexander BH, Greene MH, Struewing JP: CHEK2:1100delC and female breast cancer in the United States. Int J Cancer. 2004, 112: 541-543. 10.1002/ijc.20439.CrossRefPubMed
53.
Offit K, Pierce H, Kirchhoff T, Kolachana P, Rapaport B, Gregersen P, Johnson S, Yossepowitch O, Huang H, Satagopan J, Robson M, Scheuer L, Nafa K, Ellis N: Frequency of CHEK2*1100delC in New York breast cancer cases and controls. BMC Med Genet. 2003, 4: 1-CrossRefPubMedPubMedCentral
54.
Rashid MU, Jakubowska A, Justenhoven C, Harth V, Pesch B, Baisch C, Pierl CB, Brüning T, Ko Y, Benner A, Wichmann HE, Brauch H, Hamann U, GENICA Network: German populations with infrequent CHEK2*1100delC and minor associations with early-onset and familial breast cancer. Eur J Cancer. 2005, 41: 2896-2903. 10.1016/j.ejca.2005.04.049.CrossRefPubMed
55.
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: 1175-1182.CrossRef
56.
Weischer M, Bojesen SE, Tybjærg-Hansen A, Axelsson CK, Nordestgaard BG: Increased risk of breast cancer associated with CHEK2*1100delC. J Clin Oncol. 2007, 25: 57-63.CrossRefPubMed
57.
Choi DH, Cho DY, Lee MH, Park HS, Ahn SH, Son BH, Haffty BG: 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: 569-573. 10.1007/s10549-007-9878-z.CrossRefPubMed
58.
McInerney NM, Miller N, Rowan A, Colleran G, Barclay E, Curran C, Kerin MJ, Tomlinson IP, Sawyer E: Evaluation of variants in the CHEK2, BRIP1 and PALB2 genes in an Irish breast cancer cohort. Breast Cancer Res Treat. 2010, 121: 203-210. 10.1007/s10549-009-0540-9.CrossRefPubMed
59.
Scharrer U, Skrzypczak-Zielinska M, Wituszynska W, Mierzejewski M, Krause K, Cybulski C, Froster UG: A simple method of investigating mutations in CHEK2 by DHPLC: a study of the German populations of Saxony, Saxony-Anhalt, and Thuringia. Cancer Genet Cytogenet. 2010, 199: 48-52. 10.1016/j.cancergencyto.2009.11.015.CrossRefPubMed
60.
Bernstein JL, Teraoka SN, John EM, Andrulis IL, Knight JA, Lapinski R, Olson ER, Wolitzer AL, Seminara D, Whittemore AS, Concannon P: The CHEK2*1100delC allelic variant and risk of breast cancer: screening results from the Breast Cancer Family Registry. Cancer Epidemiol Biomarkers Prev. 2006, 15: 348-352. 10.1158/1055-9965.EPI-05-0557.CrossRefPubMed
61.
De Jong MM, Van der Graaf WTA, Nolte IM, Te Meerman GJ, Oosterwijk JC, Van der Steege G, Boezen M, Schaapveld M, Kleibeuker JH, De Vries EGE: Increased CHEK2 1100delC genotype frequency (also) in unselected breast cancer patients [abstract 9536]. J Clin Oncol. 2004, 22 (14 Supplement): 844s-
62.
Meijers-Heijboer H, Wijnen J, Vasen H, Wasielewski M, Wagner A, Hollestelle A, Elstrodt F, van den Bos R, de Snoo A, Fat GT, Brekelmans C, Jagmohan S, Franken P, Verkuijlen P, van den Ouweland A, Chapman P, Tops C, Möslein G, Burn J, Lynch H, Klijn J, Fodde R, Schutte M: The CHEK2 1100delC mutation identifies families with a hereditary breast and colorectal cancer phenotype. Am J Hum Genet. 2003, 72: 1308-1314. 10.1086/375121.CrossRefPubMedPubMedCentral
63.
Sodha N, Bullock S, Taylor R, Mitchell G, Guertl-Lackner B, Williams RD, Bevan S, Bishop K, McGuire S, Houlston RS, Eeles RA: CHEK2 variants in susceptibility to breast cancer and evidence of retention of the wild type allele in tumours. Br J Cancer. 2002, 87: 1445-1448. 10.1038/sj.bjc.6600637.CrossRefPubMedPubMedCentral
64.
Margolin S, Eiberg H, Lindblom A, Bisgaard ML: CHEK2 1100delC is prevalent in Swedish early onset familial breast cancer. BMC Cancer. 2007, 7: 163-10.1186/1471-2407-7-163.CrossRefPubMedPubMedCentral
65.
Friedrichsen DM, Malone KE, Doody DR, Daling JR, Ostrander EA: Frequency of CHEK2 mutations in a population based, case-control study of breast cancer in young women. Breast Cancer Res. 2004, 6: R629-R635. 10.1186/bcr933.CrossRefPubMedPubMedCentral
66.
Fletcher O, Johnson N, dos Santos Silva I, Kilpivaara O, Aittomäki K, Blomqvist C, Nevanlinna H, Wasielewski M, Meijers-Heijerboer H, Broeks A, Schmidt MK, Van't Veer LJ, Bremer M, Dörk T, Chekmariova EV, Sokolenko AP, Imyanitov EN, Hamann U, Rashid MU, Brauch H, Justenhoven C, Ashworth A, Peto J: Family history, genetic testing, and clinical risk prediction: pooled analysis of CHEK2*1100delC in 1,828 bilateral breast cancers and 7,030 controls. Cancer Epidemiol Biomarkers Prev. 2009, 18: 230-234. 10.1158/1055-9965.EPI-08-0416.CrossRefPubMedPubMedCentral
67.
Mellemkjaer L, Dahl C, Olsen JH, Bertelsen L, Guldberg P, Christensen J, Børresen-Dale AL, Stovall M, Langholz B, Bernstein L, Lynch CF, Malone KE, Haile RW, Andersson M, Thomas DC, Concannon P, Capanu M, Boice JD, WECARE Study Collaborative Group, Bernstein JL: Risk for contralateral breast cancer among carriers of the CHEK2*1100delC mutation in the WECARE Study. Br J Cancer. 2008, 98: 728-733. 10.1038/sj.bjc.6604228.CrossRefPubMedPubMedCentral
68.
Cybulski C, Górski B, Huzarski T, Byrski T, Gronwald J, Debniak T, Wokolorczyk D, Jakubowska A, Kowalska E, Oszurek O, Narod SA, Lubinski J: CHEK2-positive breast cancers in young Polish women. Clin Cancer Res. 2006, 12: 4832-4835. 10.1158/1078-0432.CCR-06-0158.CrossRefPubMed
69.
Cybulski C, Huzarski T, Byrski T, Gronwald J, Debniak T, Jakubowska A, Górski B, Wokołorczyk D, Masojć B, Narod SA, Lubiński J: Estrogen receptor status in CHEK2-positive breast cancers: implications for chemoprevention. Clin Genet. 2009, 75: 72-78. 10.1111/j.1399-0004.2008.01111.x.CrossRefPubMed
70.
Cybulski C, Górski B, Huzarski T, Byrski T, Gronwald J, Debniak T, Wokołorczyk D, Jakubowska A, Serrano-Fernández P, Dörk T, Narod SA, Lubiński J: Effect of CHEK2 missense variant I157T on the risk of breast cancer in carriers of other CHEK2 or BRCA1 mutations. J Med Genet. 2009, 46: 132-135.CrossRefPubMed
71.
Schutte M, Seal S, Barfoot R, Meijers-Heijboer H, Wasielewski M, Evans DG, Eccles D, Meijers C, Lohman F, Klijn J, van den Ouweland A, Futreal PA, Nathanson KL, Weber BL, Easton DF, Stratton MR, Rahman N, Breast Cancer Linkage Consortium: Variants in CHEK2 other than 1100delC do not make a major contribution to breast cancer susceptibility. Am J Hum Genet. 2003, 72: 1023-1028. 10.1086/373965.CrossRefPubMedPubMedCentral
Metadata
Title
CHEK2 contribution to hereditary breast cancer in non-BRCAfamilies
Authors
Alexis Desrichard
Yannick Bidet
Nancy Uhrhammer
Yves-Jean Bignon
Publication date
01-12-2011
Publisher
BioMed Central
Published in
Breast Cancer Research / Issue 6/2011
Electronic ISSN: 1465-542X
DOI
https://doi.org/10.1186/bcr3062

Other articles of this Issue 6/2011

Breast Cancer Research 6/2011 Go to the issue

Research article

Landscape of somatic allelic imbalances and copy number alterations in HER2-amplified breast cancer

Research article

Opposing roles of CXCR4 and CXCR7 in breast cancer metastasis

Research article

Common breast cancer susceptibility alleles are associated with tumour subtypes in BRCA1 and BRCA2 mutation carriers: results from the Consortium of Investigators of Modifiers of BRCA1/2

Viewpoint

New insights into the role of androgen and oestrogen receptors in molecular apocrine breast tumours

Review

Mammographic density and breast cancer risk: current understanding and future prospects

Review

Mutations in the phosphatidylinositol 3-kinase pathway: role in tumor progression and therapeutic implications in breast cancer
Webinar | 19-02-2024 | 17:30 (CET)

Keynote webinar | Spotlight on antibody–drug conjugates in cancer

Watch now

Antibody–drug conjugates (ADCs) are novel agents that have shown promise across multiple tumor types. Explore the current landscape of ADCs in breast and lung cancer with our experts, and gain insights into the mechanism of action, key clinical trials data, existing challenges, and future directions.

Dr. Véronique Diéras
Prof. Fabrice Barlesi
Developed by: Springer Medicine
Image Credits