MUTYH gene variants and breast cancer in a Dutch case-control study

Breast Cancer Research and Treatment

Volumn 134, Issue 1, 2012, Pages 219-227

  Out, Astrid A ^a,d   Wasielewski, Marijke ^b,e   Huijts, Petra E A ^a   Van Minderhout, Ivonne J H M ^a   Houwing Duistermaat, Jeanine J ^a   Tops, Carli M J ^a   Nielsen, Maartje ^a   Seynaeve, Caroline ^c   Wijnen, Juul T ^a   Breuning, Martijn H ^a   Van Asperen, Christi J ^a   Schutte, Mieke ^b,f   Hes, Frederik J ^a   Devilee, Peter ^a  

^a LEIDEN UNIVERSITY MEDICAL CENTER   (Netherlands)

^b JOSEPHINE NEFKENS INSTITUTE   (Netherlands)

^c ERASMUS MEDICAL CENTER   (Netherlands)

^d VU UNIVERSITY MEDICAL CENTER   (Netherlands)

^e UNIVERSITY MEDICAL CENTER GRONINGEN   (Netherlands)

^f Lorentz Center   (Netherlands)

Author keywords

BRCAx; Breast cancer; Case control study; Genotyping; MUTYH

Indexed keywords

ADULT; AGE; AGED; ALLELE; ARTICLE; BRCA2 GENE; BREAST CANCER; CANCER INCIDENCE; CASE CONTROL STUDY; COHORT ANALYSIS; CONTROLLED STUDY; DISEASE ASSOCIATION; DNA FLANKING REGION; FEMALE; GENE; GENE MUTATION; GENE SEQUENCE; GENETIC CODE; GENETIC PREDISPOSITION; GENETIC VARIABILITY; GENOTYPE; HETEROZYGOTE; HISTOPATHOLOGY; HUMAN; INTRON; MAJOR CLINICAL STUDY; MALE; MULTIPLE CANCER; MUTYH GENE; NETHERLANDS; ONCOGENE; PRIORITY JOURNAL; SINGLE NUCLEOTIDE POLYMORPHISM;

EID: 84863987457     PISSN: 01676806     EISSN: 15737217     Source Type: Journal    
DOI: 10.1007/s10549-012-1965-0     Document Type: Article

References (35)

1. JP Cheadle JR Sampson 2007 MUTYH-associated polyposis-from defect in base excision repair to clinical genetic testing DNA Repair (Amst) 6 274 279 10.1016/j.dnarep.2006.11.001 1:CAS:528:DC%2BD2sXit1Gqsrw%3D
2. S Jones P Emmerson J Maynard, et al. 2002 Biallelic germline mutations in MYH predispose to multiple colorectal adenoma and somatic G:C → T:A mutations Hum Mol Genet 11 2961 2967 12393807 10.1093/hmg/11.23.2961 1:CAS:528:DC%2BD38XptFKntro%3D
3. S Jones S Lambert GT Williams JM Best JR Sampson JP Cheadle 2004 Increased frequency of the k-ras G12C mutation in MYH polyposis colorectal adenomas Br J Cancer 90 1591 1593 15083190 10.1038/sj.bjc.6601747 1:CAS:528:DC%2BD2cXjtVWktbw%3D
4. M Nielsen PF Franken TH Reinards, et al. 2005 Multiplicity in polyp count and extracolonic manifestations in 40 Dutch patients with MYH associated polyposis coli (MAP) J Med Genet 42 e54 16140997 10.1136/jmg.2005.033217 1:STN:280:DC%2BD2Mvnt1Ontw%3D%3D
5. E Theodoratou H Campbell A Tenesa, et al. 2010 A large-scale meta-analysis to refine colorectal cancer risk estimates associated with MUTYH variants Br J Cancer 103 1875 1884 21063410 10.1038/sj.bjc.6605966 1:STN:280:DC%2BC3M%2FisVSmsA%3D%3D
6. S Vogt N Jones D Christian, et al. 2009 Expanded extracolonic tumor spectrum in MUTYH-associated polyposis Gastroenterology 137 1976 1985 19732775 10.1053/j.gastro.2009.08.052 1:CAS:528:DC%2BD1MXhs1SisrzP
7. Wasielewski M, Out AA, Vermeulen J et al (2010) Increased MUTYH mutation frequency among Dutch families with breast cancer and colorectal cancer. Breast Cancer Res Treat 124:635-641
8. X Wang C Szabo C Qian, et al. 2008 Mutational analysis of thirty-two double-strand DNA break repair genes in breast and pancreatic cancers Cancer Res 68 971 975 18281469 10.1158/0008-5472.CAN-07-6272 1:CAS:528: DC%2BD1cXhvFemu7s%3D
9. D Li W Zhang J Zhu, et al. 2001 Oxidative DNA damage and 8-hydroxy-2-deoxyguanosine DNA glycosylase/apurinic lyase in human breast cancer Mol Carcinog 31 214 223 11536371 10.1002/mc.1056 1:CAS:528:DC%2BD3MXmslGmurw%3D
10. AS Soliman SV Vulimiri HE Kleiner, et al. 2004 High levels of oxidative DNA damage in lymphocyte DNA of premenopausal breast cancer patients from Egypt Int J Environ Health Res 14 121 134 15203457 10.1080/0960312042000209534 1:CAS:528:DC%2BD2cXjt1ymsb0%3D
11. T Dziaman T Huzarski D Gackowski, et al. 2009 Elevated level of 8-oxo-7,8-dihydro-2-deoxyguanosine in leukocytes of BRCA1 mutation carriers compared to healthy controls Int J Cancer 125 2209 2213 19623658 10.1002/ijc.24600 1:CAS:528:DC%2BD1MXhtVOms7nP
12. F Le Page V Randrianarison D Marot, et al. 2000 BRCA1 and BRCA2 are necessary for the transcription-coupled repair of the oxidative 8-oxoguanine lesion in human cells Cancer Res 60 5548 5552 11034101
13. K Furuuchi M Tada H Yamada, et al. 2000 Somatic mutations of the APC gene in primary breast cancers Am J Pathol 156 1997 2005 10854222 10.1016/S0002-9440(10)65072-9 1:CAS:528:DC%2BD3cXksFSru70%3D
14. OM Sieber KM Howarth C Thirlwell, et al. 2004 Myh deficiency enhances intestinal tumorigenesis in multiple intestinal neoplasia (ApcMin/+) mice Cancer Res 64 8876 8881 15604247 10.1158/0008-5472.CAN-04-2958 1:CAS:528: DC%2BD2cXhtVOmsL%2FE
15. R Radpour AX Fan C Kohler W Holzgreve XY Zhong 2009 Current understanding of mitochondrial DNA in breast cancer Breast J 15 505 509 19624415 10.1111/j.1524-4741.2009.00767.x 1:CAS:528:DC%2BD1MXhtlCgurrF
16. Wasielewski M, Riaz M, Vermeulen J et al (2009) Association of rare MSH6 variants with familial breast cancer. Breast Cancer Res Treat 123:315-320
17. Didraga MA, van Beers EH, Joosse SA et al (2011) A non-BRCA1/2 hereditary breast cancer sub-group defined by aCGH profiling of genetically related patients. Breast Cancer Res Treat 130:425-436
18. H Meijers-Heijboer A van den Ouweland J Klijn, et al. 2002 Low-penetrance susceptibility to breast cancer due to CHEK2(*)1100delC in noncarriers of BRCA1 or BRCA2 mutations Nat Genet 31 55 59 11967536 10.1038/ng879 1:CAS:528:DC%2BD38Xjt1Kns78%3D
19. PE Huijts MP Vreeswijk KH Kroeze-Jansema, et al. 2007 Clinical correlates of low-risk variants in FGFR2, TNRC9, MAP3K1, LSP1 and 8q24 in a Dutch cohort of incident breast cancer cases Breast Cancer Res 9 R78 17997823 10.1186/bcr1793
20. E Levy-Lahad E Friedman 2007 Cancer risks among BRCA1 and BRCA2 mutation carriers Br J Cancer 96 11 15 17213823 10.1038/sj.bjc.6603535 1:CAS:528:DC%2BD2sXis1Kntw%3D%3D
21. AA Out IJ van Minderhout JJ Goeman, et al. 2009 Deep sequencing to reveal new variants in pooled DNA samples Hum Mutat 30 1703 1712 19842214 10.1002/humu.21122 1:CAS:528:DC%2BC3cXkvFOmtQ%3D%3D
22. AA Out CM Tops M Nielsen, et al. 2010 Leiden Open Variation Database of the MUTYH gene Hum Mutat 31 1205 1215 20725929 10.1002/humu.21343 1:CAS:528:DC%2BC3cXhsFSlt7vN
23. Barrett JC(2009) Haploview: Visualization and analysis of SNP genotype data. Cold Spring Harb Protoc 2009:pdb.ip71
24. S Aretz S Uhlhaas H Goergens, et al. 2006 MUTYH-associated polyposis: 70 of 71 patients with biallelic mutations present with an attenuated or atypical phenotype Int J Cancer 119 807 814 16557584 10.1002/ijc.21905 1:CAS:528:DC%2BD28XntVeqt78%3D
25. P Peterlongo N Mitra A Sanchez de Abajo, et al. 2006 Increased frequency of disease-causing MYH mutations in colon cancer families Carcinogenesis 27 2243 2249 16774938 10.1093/carcin/bgl093 1:CAS:528:DC%2BD28XhtFKltrjI
26. SP Cleary M Cotterchio MA Jenkins, et al. 2009 Germline MutY human homologue mutations and colorectal cancer: a multisite case-control study Gastroenterology 136 1251 1260 19245865 10.1053/j.gastro.2008.12.050 1:CAS:528:DC%2BD1MXkslWgsbg%3D
27. SE Halford AJ Rowan L Lipton, et al. 2003 Germline mutations but not somatic changes at the MYH locus contribute to the pathogenesis of unselected colorectal cancers Am J Pathol 162 1545 1548 12707038 10.1016/S0002-9440(10) 64288-5 1:CAS:528:DC%2BD3sXjsl2mu78%3D
28. M Goto K Shinmura Y Nakabeppu, et al. 2010 Adenine DNA glycosylase activity of 14 human MutY homolog (MUTYH) variant proteins found in patients with colorectal polyposis and cancer Hum Mutat 31 E1861 E1874 20848659 10.1002/humu.21363 1:CAS:528:DC%2BC3cXhsFSltL%2FJ
29. Rennert G, Lejbkowicz F, Cohen I, Pinchev M, Rennert HS, Barnett-Griness O (2011) MutYH mutation carriers have increased breast cancer risk. Cancer. doi: 10.1002/cncr.26506
30. ME Beiner WW Zhang S Zhang S Gallinger P Sun SA Narod 2009 Mutations of the MYH gene do not substantially contribute to the risk of breast cancer Breast Cancer Res Treat 114 575 578 18454351 10.1007/s10549-008-0042-1 1:CAS:528:DC%2BD1MXisFSqt78%3D
31. Y Zhang PA Newcomb KM Egan, et al. 2006 Genetic polymorphisms in base-excision repair pathway genes and risk of breast cancer Cancer Epidemiol Biomarkers Prev 15 353 358 16492928 10.1158/1055-9965.EPI-05-0653 1:CAS:528:DC%2BD28Xhs1WrtL8%3D
32. J Conde SN Silva AP Azevedo, et al. 2009 Association of common variants in mismatch repair genes and breast cancer susceptibility: a multigene study BMC Cancer 9 344 19781088 10.1186/1471-2407-9-344
33. SC Linn LJ van 't Veer 2009 Clinical relevance of the triple-negative breast cancer concept: genetic basis and clinical utility of the concept Eur J Cancer 45 Suppl 1 11 26 19775601 10.1016/S0959-8049(09)70012-7
34. A Broeks MK Schmidt ME Sherman, et al. 2011 Low penetrance breast cancer susceptibility loci are associated with specific breast tumor subtypes: findings from the Breast Cancer Association Consortium Hum Mol Genet 20 3289 3303 21596841 10.1093/hmg/ddr228
35. F Bertucci B Orsetti V Negre, et al. 2008 Lobular and ductal carcinomas of the breast have distinct genomic and expression profiles Oncogene 27 5359 5372 18490921 10.1038/onc.2008.158 1:CAS:528:DC%2BD1cXhtV2qtr3L