CASP8 D302H polymorphism delays the age of onset of breast cancer in BRCA1 and BRCA2 carriers

Breast Cancer Research and Treatment

Volumn 119, Issue 1, 2010, Pages 87-93

  Palanca Suela, Sarai ^a   Esteban Cardeñosa, Eva ^a   Barragán González, Eva ^a   De Juan Jiménez, Inmaculada ^a   Chirivella González, Isabel ^b   Segura Huerta, Ángel ^a   Guillén Ponce, Carmen ^c   Martínez De Dueñas, Eduardo ^d   Montalar Salcedo, Joaquín ^a   Castel Sánchez, Victoria ^a   Bolufer Gilabert, Pascual ^a  

^a HOSPITAL UNIVERSITARIO LA FE   (Spain)

^b HOSPITAL CLÍNICO UNIVERSITARIO   (Spain)

^c HOSPITAL GENERAL UNIVERSITARIO DE ELCHE   (Spain)

^d Hospital Provincial   (Spain)

Author keywords

BRCA1 BRCA2 mutation carriers; Breast cancer; CASP8 D302H polymorphism

Indexed keywords

BRCA1 PROTEIN; BRCA2 PROTEIN; CASPASE 8; GENOMIC DNA; OXIDOREDUCTASE; PROTEIN P53; QUINONE OXIDOREDUCTASE; RAD51 PROTEIN; UNCLASSIFIED DRUG;

ADULT; AGE DISTRIBUTION; ARTICLE; BREAST CANCER; BREAST CARCINOMA; CANCER SUSCEPTIBILITY; CONTROLLED STUDY; FAMILY STUDY; FEMALE; FLUORESCENCE; GENE MUTATION; HETEROZYGOTE; HIGH RISK POPULATION; HUMAN; INTRADUCTAL CARCINOMA; MAJOR CLINICAL STUDY; MALE; MEDULLARY CARCINOMA; ONSET AGE; OVARY CANCER; PAPILLARY CARCINOMA; PRIORITY JOURNAL; REAL TIME POLYMERASE CHAIN REACTION; RISK REDUCTION; SINGLE NUCLEOTIDE POLYMORPHISM; WILD TYPE;

ADOLESCENT; ADULT; AGE OF ONSET; AGED; AGED, 80 AND OVER; BREAST NEOPLASMS; CASPASE 8; DNA MUTATIONAL ANALYSIS; FEMALE; GENES, BRCA1; GENES, BRCA2; GENETIC PREDISPOSITION TO DISEASE; GENOTYPE; HETEROZYGOTE; HUMANS; MIDDLE AGED; MUTATION; OVARIAN NEOPLASMS; POLYMORPHISM, GENETIC; RISK;

EID: 72449192781     PISSN: 01676806     EISSN: 15737217     Source Type: Journal    
DOI: 10.1007/s10549-009-0316-2     Document Type: Article

References (45)

1. P Boyley J Ferlay 2005 Cancer incidence and mortality in Europe 2004 Ann Oncol 16 481 488 10.1093/annonc/mdi098 10.1093/annonc/mdi098 (Pubitemid 40458328)
2. S Rowell B Newman J Boyd, et al. 1994 Inherited predisposition to breast and ovarian cancer Am J Hum Genet 55 861 865 1:STN:280:DyaK2M%2Fmsl2nuw%3D%3D 7977346
3. AC Antoniou DF Easton 2003 Polygenic inheritance of breast cancer: implications for design of association studies Genet Epidemiol 25 190 202 10.1002/gepi.10261 10.1002/gepi.10261 14557987 (Pubitemid 37296594)
4. R Wooster G Bignell J Lancaster, et al. 1995 Identification of the breast cancer susceptibility gene BRCA2 Nature 378 789 792 10.1038/378789a0 10.1038/378789a0 1:CAS:528:DyaK28XltFWi 8524414 (Pubitemid 26004412)
5. A Antoniou PD Pharoah S Narod, et al. 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)
6. S Simchoni E Friedman B Kaufman, et al. 2006 Familial clustering of site-specific cancer risks associated with BRCA1 and BRCA2 mutations in the Ashkenazi Jewish population Proc Natl Acad Sci USA 103 3770 3774 10.1073/pnas.0511301103 10.1073/pnas.0511301103 1:CAS:528:DC%2BD28XivFWis7g%3D 16537453 (Pubitemid 43376630)
7. G Chenevix-Trench RL Milne AC Antoniou, et al. 2007 An international initiative to identify genetic modifiers of cancer risk in BRCA1 and BRCA2 mutation carriers: the consortium of investigators of modifiers of BRCA1 and BRCA2 (CIMBA) Breast Cancer Res 9 104 10.1186/bcr1670 10.1186/bcr1670 17466083
8. AM Dunning AM Dunning CS Healey, et al. 1999 A systematic review of genetic polymorphisms and breast cancer risk Cancer Epidemiol Biomarkers Prev 8 843 854 1:CAS:528:DyaK1MXns1CrtLw%3D 10548311
9. P Karran 2000 DNA double strand break repair in mammalian cells Curr Opin Genet Dev 10 144 150 10.1016/S0959-437X(00)00069-1 10.1016/S0959-437X(00)00069- 1 1:CAS:528:DC%2BD3cXisFWhsLk%3D 10753787 (Pubitemid 30182246)
10. AK Wong R Pero PA Ormonde, et al. 1997 RAD51 interacts with the evolutionarily conserved BRC motifs in the human breast cancer susceptibility gene brca2 J Biol Chem 272 31941 31944 10.1074/jbc.272.51.31941 10.1074/jbc.272.51.31941 1:CAS:528:DyaK1cXis1CmtA%3D%3D 9405383 (Pubitemid 28011857)
11. R Scully J Chen A Plug, et al. 1997 Association of BRCA1 with Rad51 in mitotic and meiotic cells Cell 88 265 275 10.1016/S0092-8674(00)81847-4 10.1016/S0092-8674(00)81847-4 1:CAS:528:DyaK2sXpsFSnuw%3D%3D 9008167 (Pubitemid 28015875)
12. E Levy-Lahad A Lahad S Eisenberg, et al. 2001 A single nucleotide polymorphism in the RAD51 gene modifies cancer risk in BRCA2 but not BRCA1 carriers Proc Natl Acad Sci USA 98 3232 3236 10.1073/pnas.051624098 10.1073/pnas.051624098 1:CAS:528:DC%2BD3MXit1alsLg%3D 11248061 (Pubitemid 32220828)
13. J Blasiak K Przybylowska A Czechowska, et al. 2003 Analysis of the G/C polymorphism in the 5′-untranslated region of the RAD51 gene in breast cancer Acta Biochim Pol 50 249 253 1:CAS:528:DC%2BD3sXjt1Sru7g%3D 12673366
14. AC Antoniou OM Sinilnikova J Simard, et al. 2007 RAD51 135G > C modifies breast cancer risk among BRCA2 mutation carriers: results from a combined analysis of 19 studies Am J Hum Genet 81 1186 1200 10.1086/522611 10.1086/522611 1:CAS:528:DC%2BD2sXhtl2ju77P 17999359 (Pubitemid 350211449)
15. M Olivier R Eeles M Hollstein, et al. 2002 The IARC TP53 database: new online mutation analysis and recommendations to users Hum Mutat 19 607 614 10.1002/humu.10081 10.1002/humu.10081 1:CAS:528:DC%2BD38XkvVGktro%3D 12007217 (Pubitemid 34556481)
16. KK Walker AJ Levine 1996 Identification of a novel p53 functional domain that is necessary for efficient growth suppression Proc Natl Acad Sci USA 93 15335 15340 10.1073/pnas.93.26.15335 10.1073/pnas.93.26.15335 1:CAS:528:DyaK2sXnt1Gk 8986812 (Pubitemid 27009601)
17. N Buyru H Tigli N Dalay 2003 P53 codon 72 polymorphism in breast cancer Oncol Rep 10 711 714 1:CAS:528:DC%2BD3sXjsVOltLg%3D 12684648
18. J Tommiska H Eerola M Heinonen, et al. 2005 Breast cancer patients with p53 Pro72 homozygous genotype have a poorer survival Clin Cancer Res 11 5098 5103 10.1158/1078-0432.CCR-05-0173 10.1158/1078-0432.CCR-05-0173 1:CAS:528:DC%2BD2MXmt12qtLk%3D 16033823 (Pubitemid 41003693)
19. T Ohayon R Gershoni-Baruch MZ Papa, et al. 2005 The R72P P53 mutation is associated with familial breast cancer in Jewish women Br J Cancer 92 1144 1148 10.1038/sj.bjc.6602451 10.1038/sj.bjc.6602451 1:CAS:528:DC%2BD2MXisVyitrw%3D 15756275 (Pubitemid 40546682)
20. A Osorio M Pollán G Pita, et al. 2008 An evaluation of the polymorphisms Ins16 bp and Arg72Pro in p53 as breast cancer risk modifiers in BRCA1 and BRCA2 mutation carriers Br J Cancer 99 974 977 10.1038/sj.bjc.6604624 10.1038/sj.bjc.6604624 1:CAS:528:DC%2BD1cXhtV2jurrE 18781154
21. S Costa D Pinto D Pereira, et al. 2008 Importance of TP53 codon 72 and intron 3 duplication 16 bp polymorphisms in prediction of susceptibility on breast cancer BMC Cancer 8 32 10.1186/1471-2407-8-32 10.1186/1471-2407-8-32 18230179 (Pubitemid 351314953)
22. D Siegel DL Gustafson DL Dehn, et al. 2004 NAD(P)H:quinone oxidoreductase 1: role as a superoxide scavenger Mol Pharmacol 65 1238 1247 10.1124/mol.65.5.1238 10.1124/mol.65.5.1238 1:CAS:528:DC%2BD2cXjsFKgtrk%3D 15102952 (Pubitemid 38543494)
23. DW Nebert AL Roe SE Vandale, et al. 2002 NAD(P)H:quinone oxidoreductase (NQO1) polymorphism, exposure to benzene, and predisposition to disease: a HuGE review Genet Med 4 62 70 10.1097/00125817-200203000-00003 1:CAS:528: DC%2BD38XjtFSru7o%3D 11882782 (Pubitemid 44698580)
24. G Asher J Lotem B Cohen, et al. 2001 Regulation of p53 stability and p53-dependent apoptosis by NADH quinone oxidoreductase 1 Proc Natl Acad Sci USA 98 1188 1193 10.1073/pnas.021558898 10.1073/pnas.021558898 1:CAS:528: DC%2BD3MXht1Smt78%3D 11158615 (Pubitemid 32121208)
25. DJ Long RL Waikel XJ Wang, et al. 2000 NAD(P)H:quinone oxidoreductase 1 deficiency increases susceptibility to benzo(a)pyrene-induced mouse skin carcinogenesis Cancer Res 60 5913 5915 1:CAS:528:DC%2BD3cXotV2mu7Y%3D 11085502
26. RA Larson Y Wang M Banerjee, et al. 1999 Prevalence of the inactivating 609C > T polymorphism in the NAD(P)H:quinone oxidoreductase (NQO1) gene in patients with primary and therapy-related myeloid leukemia Blood 94 803 807 1:CAS:528:DyaK1MXksVemu7o%3D 10397748
27. P Bolufer E Barragan M Collado, et al. 2006 Influence of genetic polymorphisms on the risk of developing leukemia and on disease progression Leuk Res 30 1471 1491 10.1016/j.leukres.2006.01.016 10.1016/j.leukres.2006.01.016 1:CAS:528:DC%2BD28XhtFWitLnI 17023046 (Pubitemid 44573473)
28. R Fagerholm B Hofstetter J Tommiska, et al. 2008 NAD(P)H:quinone oxidoreductase 1 NQO1*2 genotype (P187S) is a strong prognostic and predictive factor in breast cancer Nat Genet 40 844 853 10.1038/ng.155 10.1038/ng.155 1:CAS:528:DC%2BD1cXnslKktLg%3D 18511948 (Pubitemid 351913646)
29. N Siegelmann-Danieli KH Buetow 2002 Significance of genetic variation at the glutathione S-transferase M1 and NAD(P)H:quinone oxidoreductase 1 detoxification genes in breast cancer development Oncology 62 39 45 10.1159/000048245 10.1159/000048245 1:CAS:528:DC%2BD38XntFClsQ%3D%3D 11810042 (Pubitemid 34124224)
30. A Cox AM Dunning M Garcia-Closas, et al. 2007 A common coding variant in CASP8 is associated with breast cancer risk Nat Genet 39 352 358 10.1038/ng1981 10.1038/ng1981 1:CAS:528:DC%2BD2sXitVOktrY%3D 17293864 (Pubitemid 46328496)
31. MO Hengartner 2002 The biochemistry of apoptosis Nature 407 770 776 10.1038/35037710 10.1038/35037710
32. GI Evan KH Vousden 2001 Proliferation, cell cycle and apoptosis in cancer Nature 411 342 348 10.1038/35077213 10.1038/35077213 1:CAS:528: DC%2BD3MXktVSjsr8%3D 11357141 (Pubitemid 32467043)
33. G MacPherson CS Healey MD Teare, et al. 2004 Association of a common variant of the CASP8 gene with reduced risk of breast cancer J Natl Cancer Inst 96 1866 1869 1:CAS:528:DC%2BD2MXjvFajug%3D%3D 15601643
34. B Frank JL Bermejo K Hemminki, et al. 2005 Re: association of a common variant of the CASP8 gene with reduced risk of breast cancer J Natl Cancer Inst 97 1012 1013 15998955
35. The Breast Cancer Information Core Database BIC. http://research.nhgri. nih.gov/bic/Member/index.shtml. Accessed 1 Jan 2009
36. A Ganguly MJ Rock DJ Prockop 1993 Conformation-sensitive gel electrophoresis for rapid detection of single-base differences in double-stranded PCR products and DNA fragments: evidence for solvent-induced bends in DNA heteroduplexes Proc Natl Acad Sci USA 90 10325 10329 10.1073/pnas.90.21.10325 10.1073/pnas.90.21.10325 1:CAS:528:DyaK2cXhs1Ch 8234293 (Pubitemid 23328305)
37. AV Todd CM Ireland TJ Radloff, et al. 1991 Analysis of N-ras gene mutations in acute myeloid leukemia by allele specific restriction analysis Am J Hematol 38 207 213 10.1002/ajh.2830380310 10.1002/ajh.2830380310 1:STN:280:DyaK38%2FlvV2quw%3D%3D 1951319
38. A Osorio B Martinez-Delgado M Pollan, et al. 2006 A haplotype containing the p53 polymorphisms Ins16 bp and Arg72Pro modifies cancer risk in BRCA2 mutation carriers Hum Mutat 27 242 248 10.1002/humu.20283 10.1002/humu.20283 1:CAS:528:DC%2BD28XjsFamsL0%3D 16419081
39. V Harth T Brüning J Abel, et al. 2001 Real-time genotyping of cytochrome P4501A1 A4889G and T6235C polymorphisms Mol Cell Probes 15 93 97 10.1006/mcpr.2001.0349 10.1006/mcpr.2001.0349 1:CAS:528:DC%2BD3MXisVKnsbs%3D 11292327 (Pubitemid 32319952)
40. EL Kaplan P Meier 1958 Nonparametric estimations from incomplete observations J Am Stat Assoc 53 457 481 10.2307/2281868 10.2307/2281868
41. N Mantel 1966 Evaluation of survival data and two new rank order statistics arising in its consideration Cancer Chemother Rep 50 163 170 1:STN:280:DyaF287ht1Wgug%3D%3D 5910392
42. B Frank K Hemminki B Wappenschmidt, et al. 2006 Association of the CASP10 V410I variant with reduced familial breast cancer risk and interaction with the CASP8 D302H variant Carcinogenesis 27 606 609 10.1093/carcin/bgi248 10.1093/carcin/bgi248 1:CAS:528:DC%2BD28XhvVeltbo%3D 16251207 (Pubitemid 43372889)
43. De Vecchi G, Verderio P, Pizzamiglio S, et al. (2008) Evidences for association of the CASP8 -652 6N del promoter polymorphism with age at diagnosis in familial breast cancer cases. Breast Cancer Res Treat (in press)
44. T Sun Y Gao W Tan, et al. 2007 A six-nucleotide insertion-deletion polymorphism in the CASP8 promoter is associated with susceptibility to multiple cancers Nat Genet 39 605 613 10.1038/ng2030 10.1038/ng2030 1:CAS:528: DC%2BD2sXksFersbs%3D 17450141 (Pubitemid 46676113)
45. SJ Ramus RA Vierkant SE Johnatty, et al. 2008 Consortium analysis of 7 candidate SNPs for ovarian cancer Int J Cancer 123 380 388 10.1002/ijc.23448 10.1002/ijc.23448 1:CAS:528:DC%2BD1cXnsF2jtr0%3D 18431743 (Pubitemid 351842023)