BRCA1-associated breast and ovarian cancer risks in Poland: No association with commonly studied polymorphisms

Breast Cancer Research and Treatment

Volumn 119, Issue 1, 2010, Pages 201-211

  Jakubowska, Anna ^a,b   Gronwald, Jacek ^a   Menkiszak, Janusz ^a,c   Górski, Bohdan ^a   Huzarski, Tomasz ^a   Byrski, Tomasz ^a   Tołoczko Grabarek, Aleksandra ^a   Gilbert, Michael ^b   Edler, Lutz ^b   Zapatka, Marc ^b   Eils, Roland ^b   Lubiński, Jan ^a   Scott, Rodney J ^d   Hamann, Ute ^b  

^a POMERANIAN MEDICAL UNIVERSITY   (Poland)

^b GERMAN CANCER RESEARCH CENTER DKFZ   (Germany)

^c Department of Surgical Gynecology and Gynecological Oncology of Adults and Adolescents ^*  (Poland)

^d UNIVERSITY OF NEWCASTLE   (Australia)

Author keywords

BRCA1; Breast cancer; Modifying gene; Ovarian cancer; Polymorphism

Indexed keywords

AROMATASE; BRCA1 PROTEIN; CATECHOL METHYLTRANSFERASE; CHOLESTEROL MONOOXYGENASE (SIDE CHAIN CLEAVING); CYTOCHROME P450 17; EPIDERMAL GROWTH FACTOR RECEPTOR 2; INTERLEUKIN 6; PROTEIN P53; STEROID RECEPTOR COACTIVATOR 3; TRANSFORMING GROWTH FACTOR BETA; TRANSFORMING GROWTH FACTOR BETA RECEPTOR 1; XERODERMA PIGMENTOSUM GROUP D PROTEIN; XRCC1 PROTEIN; XRCC3 PROTEIN;

ADOLESCENT; ADULT; ARTICLE; BREAST CANCER; CANCER RISK; CELL CYCLE; CELL GROWTH; CONTROL GROUP; CONTROLLED STUDY; DNA REPAIR; FEMALE; FOLATE METABOLISM; GENE MUTATION; GENETIC ANALYSIS; GENETIC ASSOCIATION; GENETIC CODE; GENETIC POLYMORPHISM; GENETIC VARIABILITY; GENOTYPE; HUMAN; MAJOR CLINICAL STUDY; OVARY CANCER; POLAND; PRIORITY JOURNAL; STEROID METABOLISM; STEROIDOGENESIS; VALIDATION PROCESS;

BREAST NEOPLASMS; CASE-CONTROL STUDIES; DNA REPAIR; FEMALE; GENES, BRCA1; GENOTYPE; HUMANS; MUTATION; OVARIAN NEOPLASMS; POLAND; POLYMORPHISM, GENETIC; RISK; SIGNAL TRANSDUCTION;

EID: 72449175286     PISSN: 01676806     EISSN: 15737217     Source Type: Journal    
DOI: 10.1007/s10549-009-0390-5     Document Type: Article

References (48)

1. JM Birch A Lindblom D Stoppa-Lyonnet Y Bignon A Borg U Hamann N Haites RJ Scott CM Maugard H Vasen S Seitz SA Cannon-Albright A Schofield M Zelada-Hedman The Breast Cancer Linkage Consortium 1998 Genetic heterogeneity and penetrance analysis of the BRCA1 and BRCA2 genes in breast cancer families Am J Hum Genet 62 676 689 10.1086/301749 10.1086/301749 (Pubitemid 28164626)
2. A Antoniou PD Pharoah S Narod HA Risch JE Eyfjord JL Hopper N Loman H Olsson O Johannsson A Borg B Pasini P Radice S Manoukian DM Eccles N Tang E Olah H Anton-Culver E Warner J Lubinski J Gronwald B Gorski H Tulinius S Thorlacius H Eerola H Nevanlinna K Syrjäkoski OP Kallioniemi D Thompson C Evans J Peto F Lalloo DG Evans DF Easton 2003 Average risks of breast and ovarian cancer associated with BRCA1 or BRCA2 mutations detected in case Series unselected for family history: a combined analysis of 22 studies Am J Hum Genet 72 1117 1130 10.1086/375033 10.1086/375033 1:CAS:528:DC%2BD3sXjslagtbg%3D 12677558 (Pubitemid 36530000)
3. N Andrieu DE Goldgar DF Easton M Rookus R Brohet AC Antoniou S Peock G Evans D Eccles F Douglas C Noguès M Gauthier-Villars A Chompret FE Van Leeuwen I Kluijt J Benitez B Arver E Olah J Chang-Claude EMBRACE, GENEPSO, GEO-HEBON, IBCCS Collaborators Group 2006 Pregnancies, breast-feeding, and breast cancer risk in the International BRCA1/2 Carrier Cohort Study (IBCCS) J Natl Cancer Inst 98 535 544 16622123
4. VN Kristensen AL Borresen-Dale 2000 Molecular epidemiology of breast cancer: genetic variation in steroid hormone metabolism Mutat Res 462 323 333 10.1016/S1383-5742(00)00018-1 10.1016/S1383-5742(00)00018-1 1:CAS:528: DC%2BD3cXisVKgt7k%3D 10767642 (Pubitemid 30190238)
5. PA Thompson C Ambrosone 2000 Molecular epidemiology of genetic polymorphisms in estrogen metabolizing enzymes in human breast cancer J Natl Cancer Inst Monogr 27 125 134 1:CAS:528:DC%2BD3cXlvVSntbY%3D 10963624
6. HS Feigelson GA Coetzee LN Kolonel RK Ross BE Henderson 1997 A polymorphism in the CYP17 gene increases the risk of breast cancer Cancer Res 57 6 1063 1065 1:CAS:528:DyaK2sXhvFOisL4%3D 9067272
7. M Bergman-Jungeström M Gentile AC Lundin S Wingren 1999 Association between CYP17 gene polymorphism and risk of breast cancer in young women Int J Cancer 84 4 350 353 10.1002/(SICI)1097-0215(19990820)84:4<350::AID-IJC3>3. 0.CO;2-L 10.1002/(SICI)1097-0215(19990820)84:4<350::AID-IJC3>3.0.CO;2-L 10404084 (Pubitemid 29337118)
8. VN Kristensen TI Andersen A Lindblom B Erikstein P Magnus AL Børresen-Dale 1998 A rare CYP19 (aromatase) variant may increase the risk of breast cancer Pharmacogenetics 8 43 48 10.1097/00008571-199802000-00006 10.1097/00008571-199802000-00006 1:CAS:528:DyaK1cXhs1ylu74%3D 9511180 (Pubitemid 28097600)
9. SW Baxter DY Choong DM Eccles IG Campbell 2001 Polymorphic variation in CYP19 and the risk of breast cancer Carcinogenesis 22 347 349 10.1093/carcin/22.2.347 10.1093/carcin/22.2.347 1:CAS:528:DC%2BD3MXhslGrs7g%3D 11181459
10. EI Garner EE Stokes RS Berkowitz SC Mok DW Cramer 2002 Polymorphisms of the estrogen-metabolizing genes CYP17 and catechol-O-methyltransferase and risk of epithelial ovarian cancer Cancer Res 62 3058 3062 1:CAS:528: DC%2BD38XksVyru7c%3D 12036914
11. X Xu MD Gammon H Zhang JG Wetmur M Rao SL Teitelbaum JA Britton AI Neugut RM Santella J Chen 2007 Polymorphisms of one-carbon-metabolizing genes and risk of breast cancer in a population-based study Carcinogenesis 28 1504 1509 10.1093/carcin/bgm061 10.1093/carcin/bgm061 1:CAS:528:DC%2BD2sXos12jurs%3D 17372271 (Pubitemid 47241800)
12. CA Haiman M Brown SE Hankinson D Spiegelman GA Colditz WC Willett PW Kantoff DJ Hunter 2002 The androgen receptor CAG repeat polymorphism and risk of breast cancer in the Nurses' Health Study Cancer Res 62 1045 1049 1:CAS:528:DC%2BD38XitVSmsb8%3D 11861380
13. Y Giguère E Dewailly J Brisson P Ayotte N Laflamme A Demers VI Forest S Dodin J Robert F Rousseau 2001 Short polyglutamine tracts in the androgen receptor are protective against breast cancer in the general population Cancer Res 61 5869 5874 11479228
14. AM Dunning CS Healey PD Pharoah NA Foster JM Lipscombe KL Redman DF Easton NE Day BA Ponder 1998 No association between a polymorphism in the steroid metabolism gene CYP17 and risk of breast cancer Br J Cancer 77 2045 2047 1:STN:280:DyaK1czjtValtg%3D%3D 9667690
15. Z Ye JM Parry 2002 The CYP17 MspA1 polymorphism and breast cancer risk: a meta-analysis Mutagenesis 17 119 126 10.1093/mutage/17.2.119 10.1093/mutage/17.2.119 1:CAS:528:DC%2BD38XitlSqsrk%3D 11880540
16. CS Healey AM Dunning F Durocher D Teare PD Pharoah RN Luben DF Easton BA Ponder 2000 Polymorphisms in the human aromatase cytochrome P450 gene (CYP19) and breast cancer risk Carcinogenesis 21 189 193 10.1093/carcin/21.2.189 10.1093/carcin/21.2.189 1:CAS:528:DC%2BD3cXhs1Sjtbk%3D 10657957
17. S Wedrén TR Rudqvist F Granath E Weiderpass M Ingelman-Sundberg I Persson C Magnusson 2003 Catechol-O-methyltransferase gene polymorphism and post-menopausal breast cancer risk Carcinogenesis 24 681 687 10.1093/carcin/bgg022 10.1093/carcin/bgg022 12727796 (Pubitemid 36592403)
18. JE Goodman JA Lavigne JG Hengstler B Tanner KJ Helzlsouer JD Yager 2000 Catechol-O-methyltransferase polymorphism is not associated with ovarian cancer risk Cancer Epidemiol Biomarkers Prev 9 1373 1376 1:CAS:528: DC%2BD3MXktFaiuw%3D%3D 11142424
19. AB Spurdle GS Dite X Chen CJ Mayne MC Southey LE Batten H Chy L Trute MR McCredie GG Giles J Armes DJ Venter JL Hopper G Chenevix-Trench 1999 Androgen receptor exon 1 CAG repeat length and breast cancer in women before age forty years J Natl Cancer Inst 91 961 966 10.1093/jnci/91.11.961 10.1093/jnci/91.11. 961 1:CAS:528:DyaK1MXjvFOmtbw%3D 10359549
20. C Menin GL Banna G De Salvo V Lazzarotto A De Nicolo S Agata M Montagna G Sordi O Nicoletto L Chieco-Bianchi E D'Andrea 2001 Lack of association between androgen receptor CAG polymorphism and familial breast/ovarian cancer Cancer Lett 168 31 36 10.1016/S0304-3835(01)00473-6 10.1016/S0304-3835(01)00473-6 1:CAS:528:DC%2BD3MXjsFejsb4%3D 11368874 (Pubitemid 32463909)
21. CA Haiman SE Hankinson D Spiegelman GA Colditz WC Willett FE Speizer M Brown DJ Hunter 2000 Polymorphic repeat in AIB1 does not alter breast cancer risk Breast Cancer Res 2 378 385 10.1186/bcr82 10.1186/bcr82 1:CAS:528:DC%2BD3cXmtFWhtLg%3D 11056690 (Pubitemid 32223632)
22. EL Goode CM Ulrich JD Potter 2002 Polymorphisms in DNA repair genes and associations with cancer risk Cancer Epidemiol Biomarkers Prev 11 1513 1530 1:CAS:528:DC%2BD3sXmsF2msA%3D%3D 12496039
23. B Kuschel A Auranen S McBride KL Novik A Antoniou JM Lipscombe NE Day DF Easton BA Ponder PD Pharoah A Dunning 2002 Variants in DNA double-strand break repair genes and breast cancer susceptibility Hum Mol Genet 11 1399 1407 10.1093/hmg/11.12.1399 10.1093/hmg/11.12.1399 1:CAS:528:DC%2BD38XksFWmsL8%3D 12023982
24. K Mitrunen A Hirvonen 2003 Molecular epidemiology of sporadic breast cancer. The role of polymorphic genes involved in oestrogen biosynthesis and metabolism Mutat Res 544 9 41 10.1016/S1383-5742(03)00016-4 10.1016/S1383- 5742(03)00016-4 1:CAS:528:DC%2BD3sXlvVWns7Y%3D 12888106 (Pubitemid 36903202)
25. DA Levine J Boyd 2001 The androgen receptor and genetic susceptibility to ovarian cancer: results from a case series Cancer Res 61 908 911 1:CAS:528:DC%2BD3MXhsFSrtbc%3D 11221880
26. W Zheng YT Gao XO Shu W Wen Q Cai Q Dai JR Smith 2004 Population-based case-control study of CYP11A gene polymorphism and breast cancer risk Cancer Epidemiol Biomarkers Prev 13 709 714 1:CAS:528:DC%2BD2cXkt1Ght70%3D 15159300 (Pubitemid 38737857)
27. RC Millikan AJ Hummer MS Wolff A Hishida CB Begg 2005 HER2 codon 655 polymorphism and breast cancer: results from kin-cohort and case-control analyses Breast Cancer Res Treat 89 309 312 10.1007/s10549-004-2171-5 10.1007/s10549-004-2171-5 1:CAS:528:DC%2BD2MXitVKlsb8%3D 15754131 (Pubitemid 43293080)
28. LA Hefler C Grimm T Lantzsch D Lampe S Leodolter H Koelbl G Heinze A Reinthaller D Tong-Cacsire C Tempfer R Zeillinger 2005 Interleukin-1 and interleukin-6 gene polymorphisms and the risk of breast cancer in caucasian women Clin Cancer Res 11 5718 5721 10.1158/1078-0432.CCR-05-0001 10.1158/1078-0432.CCR-05-0001 1:CAS:528:DC%2BD2MXos1Cjsb4%3D 16115908 (Pubitemid 41170295)
29. A DeMichele AM Martin R Mick P Gor L Wray M Klein-Cabral G Athanasiadis T Colligan E Stadtmauer B Weber 2003 Interleukin-6 -174G→C polymorphism is associated with improved outcome in high-risk breast cancer Cancer Res 63 8051 8056 1:CAS:528:DC%2BD3sXptFOltbk%3D 14633738
30. P Benes M Jurajda J Zaloudík L Izakovicová-Hollá J Vácha 2003 C766T low-density lipoprotein receptor-related protein 1 (LRP1) gene polymorphism and susceptibility to breast cancer Breast Cancer Res 5 R77 R81 10.1186/bcr591 10.1186/bcr591 1:CAS:528:DC%2BD3sXjt12ju7Y%3D 12793904
31. AM Dunning PD Ellis S McBride HL Kirschenlohr CS Healey PR Kemp RN Luben J Chang-Claude A Mannermaa V Kataja PD Pharoah DF Easton BA Ponder JC Metcalfe 2003 A transforming growth factor beta1 signal peptide variant increases secretion in vitro and is associated with increased incidence of invasive breast cancer Cancer Res 63 2610 2615 1:CAS:528:DC%2BD3sXjsleht7w%3D 12750287
32. B Song S Margolin J Skoglund X Zhou J Rantala S Picelli B Werelius A Lindblom 2007 TGFBR1(*)6A and Int7G24A variants of transforming growth factor-beta receptor 1 in Swedish familial and sporadic breast cancer Br J Cancer 97 1175 1179 10.1038/sj.bjc.6603961 10.1038/sj.bjc.6603961 1:CAS:528:DC%2BD2sXhtFKktbzP 17848956 (Pubitemid 47586998)
33. SW Baxter DY Choong DM Eccles IG Campbell 2002 Transforming growth factor beta receptor 1 polyalanine polymorphism and exon 5 mutation analysis in breast and ovarian cancer Cancer Epidemiol Biomarkers Prev 11 211 214 1:CAS:528:DC%2BD38XisFags7o%3D 11867510
34. TR Rebbeck Y Wang PW Kantoff K Krithivas SL Neuhausen AK Godwin MB Daly SA Narod JS Brunet D Vesprini JE Garber HT Lynch BL Weber M Brown 2001 Modification of BRCA1- and BRCA2-associated breast cancer risk by AIB1 genotype and reproductive history Cancer Res 61 5420 5424 1:CAS:528:DC%2BD3MXlsVChs7g%3D 11454686
35. L Kadouri Z Kote-Jarai DF Easton A Hubert R Hamoudi B Glaser D Abeliovich T Peretz RA Eeles 2004 Polyglutamine repeat length in the AIB1 gene modifies breast cancer susceptibility in BRCA1 carriers Int J Cancer 108 399 403 10.1002/ijc.11531 10.1002/ijc.11531 1:CAS:528:DC%2BD3sXhtVSlsr7O 14648706 (Pubitemid 37549605)
36. DJ Hughes SM Ginolhac I Coupier L Barjhoux V Gaborieau B Bressac-de-Paillerets A Chompret YJ Bignon N Uhrhammer C Lasset S Giraud H Sobol A Hardouin P Berthet JP Peyrat J Fournier C Nogues R Lidereau D Muller JP Fricker M Longy C Toulas R Guimbaud D Yannoukakos S Mazoyer HT Lynch GM Lenoir DE Goldgar D Stoppa-Lyonnet OM Sinilnikova 2005 Breast cancer risk in BRCA1 and BRCA2 mutation carriers and polyglutamine repeat length in the AIB1 gene Int J Cancer 117 230 233 10.1002/ijc.21176 10.1002/ijc.21176 1:CAS:528: DC%2BD2MXhtVygsrbI 15900600 (Pubitemid 41377442)
37. AB Spurdle AC Antoniou L Kelemen H Holland S Peock MR Cook PL Smith MH Greene J Simard M Plourde MC Southey AK Godwin J Beck A Miron MB Daly RM Santella JL Hopper EM John IL Andrulis F Durocher JP Struewing DF Easton G Chenevix-Trench Australian Breast Cancer Family Study Australian Jewish Breast Cancer Study, Breast Cancer Family Registry, Interdisciplinary Health Research International Team on Breast Cancer Susceptibility, The Kathleen Cunningham Foundation Consortium for Research into Familial Breast Cancer, Epidemiological Study of Familial Breast Cancer Study Collaborators 2006 The AIB1 polyglutamine repeat does not modify breast cancer risk in BRCA1 and BRCA2 mutation carriers Cancer Epidemiol Biomarkers Prev 15 1 76 79 10.1158/1055-9965.EPI-05-0709 10.1158/1055-9965.EPI-05-0709 1:CAS:528:DC%2BD28XmvVSmsA%3D%3D 16434590
38. TR Rebbeck PW Kantoff K Krithivas S Neuhausen MA Blackwood AK Godwin MB Daly SA Narod JE Garber HT Lynch BL Weber M Brown 1999 Modification of BRCA1-associated breast cancer risk by the polymorphic androgen-receptor CAG repeat Am J Hum Genet 64 1371 1377 10.1086/302366 10.1086/302366 1:CAS:528:DyaK1MXlt1ajt78%3D 10205268 (Pubitemid 30468755)
39. L Kadouri DF Easton S Edwards A Hubert Z Kote-Jarai B Glaser F Durocher D Abeliovich T Peretz RA Eeles 2001 CAG and GGC repeat polymorphisms in the androgen receptor gene and breast cancer susceptibility in BRCA1/2 carriers and non-carriers Br J Cancer 85 36 40 10.1054/bjoc.2001.1777 10.1054/bjoc.2001.1777 1:CAS:528:DC%2BD3MXlvVKhtb0%3D 11437399 (Pubitemid 32695713)
40. AB Spurdle AC Antoniou DL Duffy N Pandeya L Kelemen X Chen S Peock MR Cook PL Smith DM Purdie B Newman GS Dite C Apicella MC Southey GG Giles JL Hopper G Chenevix-Trench EMBRACE Easton DF Study Collaborators 2005 The androgen receptor CAG repeat polymorphism and modification of breast cancer risk in BRCA1 and BRCA2 mutation carriers Breast Cancer Res 7 R176 R183 10.1186/bcr971 10.1186/bcr971 1:CAS:528:DC%2BD2MXhtFSltbo%3D 15743497
41. JL Rutter N Chatterjee S Wacholder J Struewing 2003 The HER2 I655V polymorphism and breast cancer risk in Ashkenazim Epidemiology 14 694 700 10.1097/01.ede.0000083227.74669.7b 10.1097/01.ede.0000083227.74669.7b 14569185 (Pubitemid 40417017)
42. S Wang-Gohrke W Weikel H Risch D Vesprini J Abrahamson C Lerman A Godwin R Moslehi O Olipade JS Brunet E Stickeler DG Kieback R Kreienberg B Weber SA Narod IB Runnebaum 1999 Intron variants of the p53 gene are associated with increased risk for ovarian cancer but not in carriers of BRCA1 or BRCA2 germline mutations Br J Cancer 81 179 183 10.1038/sj.bjc.6690669 10.1038/sj.bjc.6690669 1:CAS:528:DyaK1MXmt12ht7w%3D 10487631 (Pubitemid 29415510)
43. B Górski T Byrski T Huzarski A Jakubowska J Menkiszak J Gronwald A Pluzańska M Bebenek L Fischer-Maliszewska E Grzybowska SA Narod J Lubiński 2000 Founder mutations in the BRCA1 gene in Polish families with breast-ovarian cancer Am J Hum Genet 66 1963 1968 10.1086/302922 10.1086/302922 10788334 (Pubitemid 30480103)
44. B Górski A Jakubowska T Huzarski T Byrski J Gronwald E Grzybowska A Mackiewicz M Stawicka M Bebenek D Sorokin Ł Fiszer-Maliszewska O Haus H Janiszewska S Niepsuj S Góźdź L Zaremba M Posmyk M Płuzańska E Kilar D Czudowska B Waśko R Miturski JR Kowalczyk K Urbański M Szwiec J Koc B Debniak A Rozmiarek T Debniak C Cybulski E Kowalska A Tołoczko-Grabarek S Zajaczek J Menkiszak K Medrek B Masojć M Mierzejewski SA Narod J Lubiński 2004 A high proportion of founder BRCA1 mutations in Polish breast cancer families Int J Cancer 110 683 686 10.1002/ijc.20162 10.1002/ijc.20162 15146557 (Pubitemid 38746026)
45. DK Lahiri B Schnabel 1993 DNA isolation by a rapid method from human blood samples: effects of MgCl2, EDTA, storage time, and temperature on DNA yield and quality Biochem Genet 31 321 328 10.1007/BF02401826 10.1007/BF02401826 1:CAS:528:DyaK2cXjvFai 8274138 (Pubitemid 23316953)
46. C Justenhoven U Hamann F Schubert M Zapatka CB Pierl S Rabstein S Selinski T Mueller K Ickstadt M Gilbert YD Ko C Baisch B Pesch V Harth HM Bolt C Vollmert T Illig R Eils J Dippon H Brauch 2008 Breast cancer: a candidate gene approach across the estrogen metabolic pathway Breast Cancer Res Treat 108 137 149 10.1007/s10549-007-9586-8 10.1007/s10549-007-9586-8 1:CAS:528: DC%2BD1cXitVKmtLs%3D 17588204 (Pubitemid 351623246)
47. T Hothorn B Lausen 2003 On the exact distribution of maximally selected rank statistics Comput Stat Data Anal 43 121
48. B Gorski C Cybulski T Huzarski T Byrski J Gronwald A Jakubowska M Stawicka S Gozdecka-Grodecka M Szwiec K Urbanski J Mitus E Marczyk J Dziuba P Wandzel D Surdyka O Haus H Janiszewska T Debniak A Toloczko-Grabarek K Medrek B Masojc M Mierzejewski E Kowalska SA Narod J Lubinski 2005 Breast cancer predisposing alleles in Poland Breast Cancer Res Treat 92 19 24 10.1007/s10549-005-1409-1 10.1007/s10549-005-1409-1 1:STN:280: DC%2BD2MzivVWqtQ%3D%3D 15980987 (Pubitemid 40875074)