The R72P P53 mutation is associated with familial breast cancer in Jewish women

British Journal of Cancer

Volumn 92, Issue 6, 2005, Pages 1144-1148

  Ohayon, T ^a   Gershoni Baruch, R ^b,c   Papa, M Z ^d,e   Menachem, T Distelman ^a   Barzilai, S Eisenberg ^a   Friedman, E ^a,e  

^a GERTNER INSTITUTE FOR EPIDEMIOLOGY AND HEALTH POLICY RESEARCH   (Israel)

^b RAMBAM MEDICAL CENTER   (Israel)

^c TECHNION ISRAEL INSTITUTE OF TECHNOLOGY   (Israel)

^d SHEBA MEDICAL CENTER   (Israel)

^e TEL AVIV UNIVERSITY   (Israel)

Author keywords

Arg72Pro mutation; DGGE; Germline mutations; Inherited predisposition to breast cancer; P53 gene

Indexed keywords

ARGININE; PROLINE; PROTEIN P53;

ADULT; ALLELE; ARTICLE; BREAST CANCER; CANCER SUSCEPTIBILITY; CODON; CONTROLLED STUDY; DENATURING GRADIENT GEL ELECTROPHORESIS; DNA SEQUENCE; EXON; FAMILIAL CANCER; FEMALE; GENETIC POLYMORPHISM; GENOTYPE; HETEROZYGOTE; HIGH RISK POPULATION; HOMOZYGOTE; HUMAN; ISRAEL; JEW; MAJOR CLINICAL STUDY; MISSENSE MUTATION; MUTATIONAL ANALYSIS; ONCOGENE; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL; SEQUENCE ANALYSIS; TUMOR SUPPRESSOR GENE; AGED; BREAST TUMOR; GENETIC PREDISPOSITION; GENETICS; MIDDLE AGED; MUTATION;

ADULT; AGED; BREAST NEOPLASMS; FEMALE; GENES, BRCA1; GENES, BRCA2; GENES, P53; GENETIC PREDISPOSITION TO DISEASE; GERM-LINE MUTATION; HUMANS; JEWS; MIDDLE AGED;

EID: 17444388488     PISSN: 00070920     EISSN: None     Source Type: Journal    
DOI: 10.1038/sj.bjc.6602451     Document Type: Article

References (35)

1. Abeliovich D, Kaduri L, Lerer I, Weinberg N, Amir G, Sagi M, Zlotogora J, Heching N, Peretz T (1997) The founder mutations 185delAG and 5382insC in BRCA1 and 6174delT in BRCA2 appear in 60% of ovarian cancer and 30% of early-onset breast cancer patients among Ashkenazi women. Am J Hum Genet 60: 505-514
2. Balz V, Prisack HB, Bier H, Bojar H (2002) Analysis of BRCA1, TP53, and TSG101 germline mutations in German breast and/or ovarian cancer families. Cancer Genet Cytogenet 138: 120-127
3. Borresen A, Andersen T, Garber J, Barbier-Piraux N, Thorlacius S, Eyfjord J, Ottestad L, Smith-Sorensen B, Hovig E, Malkin D (1992) Screening for germ line TP53 mutations in breast cancer patients. Cancer Res 52: 3234-3236
4. Bukholm I, Nesland J, Karesen R, Jacobsen U, Borresen-Dale A (1997) Expression of E-cadherin and its relation to the p53 protein status in human breast carcinomas. Virchows Arch 431: 317-321
5. Buyru N, Tigli H, Dalay N (2003) P53 codon 72 polymorphism in breast cancer. Oncol Rep 10: 711-714
6. Crow JF (2001) The beanbag lives on. Nature 409: 771
7. Dumont P, Leu JI, Della Pietra III AC, George DL, Murphy M (2003) The codon 72 polymorphic variants of p53 have markedly different apoptotic potential. Nat Genet 33: 357-365
8. Easton DF, Bishop DT, Ford D, Crockford GP (1993) Genetic linkage analysis in familial breast and ovarian cancer: results from 214 families. The Breast Cancer Linkage Consortium. Am J Hum Genet 52: 678-701
9. Evans D, Birch J, Thorneycroft M, McGown G, Lalloo F, Varley J (2002) Low rate of TP53 germline mutations in breast cancer/sarcoma families not fulfilling classical criteria for Li-Fraumeni syndrome. J Med Genet 39: 941-944
10. Frank TS, Manley SA, Olopade OI, Cummings S, Garber JE, Bernhardt B, Antman K, Russo D, Wood ME, Mullineau L, Isaacs C, Peshkin B, Buys S, Venne V, Rowley PT, Loader S, Offit K, Robson M, Hampel H, Brener D, Winer EP, Clark S, Weber B, Strong LC, Thomas A (1998) Sequence analysis of BRCA1 and BRCA2: correlation of mutations with family history and ovarian cancer risk. J Clin Oncol 16: 2417-2425
11. Ganguly A, Leahy K, Marshall AM, Dhulipala R, Godmilow L, Ganguly T (1997) Genetic testing for breast cancer susceptibility: frequency of BRCA1 and BRCA2 mutations. Genet Test 1: 85-90
12. Goode EL, Dunning AM, Kuschel B, Healey CS, Day NE, Ponder BA, Easton DF, Pharoah PP (2002) Effect of germ-line genetic variation on breast cancer survival in a population-based study. Cancer Res 62: 3052-3057
13. Guldberg P, Nedergaard T, Nielsen HJ, Olsen AC, Ahrenkiel V, Zeuthen J (1997) Single-step DGGE-based mutation scanning of the p53 gene: application to genetic diagnosis of colorectal cancer. Hum Mutat 9: 348-355
14. Hall JM, Lee MK, Newman B, Morrow JE, Anderson LA, Huey B, King MC (1990) Linkage of early-onset familial breast cancer to chromosome 17q21. Science 250: 1684-1689
15. Harris CC, Hollstein M (1993) Clinical implications of the p53 tumor-suppressor gene. N Engl J Med 329: 1318-1327
16. Hartmann A, Blaszyk H, McGovern RM, Schroeder JJ, Cunningham J, De Vries EM, Kovach JS, Sommer SS (1995) p53 gene mutations inside and outside of exons 5-8: the patterns differ in breast and other cancers. Oncogene 10: 681-688
17. Huang XE, Hamajima N, Katsuda N, Matsuo K, Hirose K, Mizutani M, Iwata H, Miura S, Xiang J, Tokudome S, Tajima K (2003) Association of p53 codon Arg72Pro and p73 G4C14-to-A4T14 at exon 2 genetic polymorphisms with the risk of Japanese breast cancer. Breast Cancer 10: 307-311
18. Lehman TA, Haffty BG, Carbone CJ, Bishop LR, Gumbs AA, Krishnan S, Shields PG, Modali R, Turner BC (2000) Elevated frequency and functional activity of a specific germ-line p53 intron mutation in familial breast cancer. Cancer Res 60: 1062-1069
19. Mabrouk I, Baccouche S, El-Abed R, Mokdad-Gargouri R, Mosbah A, Said S, Daoud J, Frikha M, Jlidi R, Gargouri A (2003) No evidence of correlation between p53 codon 72 polymorphism and risk of bladder or breast carcinoma in Tunisian patients. Ann NY Acad Sci 1010: 764-770
20. Marsh A, Spurdle AB, Turner BC, Fereday S, Thorne H, Pupo GM, Mann GJ, Hopper JL, Sambrook JF, Chenevix-Trench G (2001) The intronic G13964C variant in p53 is not a high-risk mutation in familial breast cancer in Australia. Breast Cancer Res 3: 346-349
21. Perkowska M, BroZek I, Wysocka B, Haraldsson K, Sandberg T, Johansson U, Sellberg G, Borg A, Limon J (2003) BRCA1 and BRCA2 mutation analysis in breast-ovarian cancer families from northeastern Poland. Hum Mutat 21: 553-554
22. Rohlfs EM, Learning WG, Friedman KJ, Couch FJ, Weber BL, Silverman LM (1997) Direct detection of mutations in the breast and ovarian cancer susceptibility gene BRCA1 by PCR-mediated site-directed mutagenesis. Clin Chem 43: 24-29
23. Shiri-Sverdlov R, Gershoni-Baruch R, Ichezkel-Hirsch G, Gotlieb WH, Bruchim Bar-Sade R, Chetrit A, Rizel S, Modan B, Friedman E (2001) The Tyr978X BRCA1 mutation in non-Ashkenazi Jews: occurrence in high-risk families, general population and unselected ovarian cancer patients. Community Genet 4: 50-55
24. Shiri-Sverdlov R, Oefner P, Green L, Baruch RG, Wagner T, Kruglikova A, Haitchick S, Hofstra RM, Papa MZ, Mulder I, Rizel S, Bar Sade RB, Dagan E, Abdeen Z, Goldman B, Friedman E (2000) Mutational analyses of BRCA1 and BRCA2 in Ashkenazi and non-Ashkenazi Jewish women with familial breast and ovarian cancer. Hum Mutat 16: 491-501
25. Sidransky D, Tokino T, Helzlsouer K, Zehnbauer B, Rausch G, Shelton B, Prestigiacomo L, Vogelstein B, Davidson N (1992) Inherited p53 gene mutations in breast cancer. Cancer Res 52: 2984-2986
26. Sjalander A, Birgander R, Hallmans G, Cajander S, Lenner P, Athlin L, Beckman G, Beckman L (1996) p53 polymorphisms and haplotypes in breast cancer. Carcinogenesis 17: 1313-1316
27. Slattery ML, Kerber RA (1993) A comprehensive evaluation of family history and breast cancer risk. The Utah Population Database. JAMA 270: 1563-1568
28. Storey A, Thomas M, Kalita A, Harwood C, Gardiol D, Mantovani F, Breuer J, Leigh IM, Matlashewski G, Banks L (1998) Role of a p53 polymorphism in the development of human papillomavirus-associated cancer. Nature 393: 229-234
29. Suspitsin EN, Buslov KG, Grigoriev MY, Ishutkina JG, Ulibina JM, Gorodinskaya VM, Pozharisski KM, Berstein LM, Hanson KP, Togo AV, Imyanitov EN (2003) Evidence against involvement of p53 polymorphism in breast cancer predisposition. Int J Cancer 103: 431-433
30. Tereschenko IV, Basham VM, Ponder BA, Pharoah PD (2002) BRCA1 and BRCA2 mutations in Russian familial breast cancer. Hum Mutat 19: 184
31. Theodor L, Bar-Sade R, Kruglikova A, Ben-Baruch G, Risel S, Shiri-Sverdlov R, Hirsh Yechezkel G, Modan B, Papa MZ, Rechavi G, Friedman E (1998) An identical novel mutation in BRCA1 and a common haplotype in familial ovarian cancer in non-Ashkenazi Jews. Br J Cancer 77: 1880-1883
32. Thomas M, Kalita A, Labrecque S, Pim D, Banks L, Matlashewski G (1999) Two polymorphic variants of wild-type p53 differ biochemically and biologically. Mol Cell Biol 19: 1092-1100
33. Varley JM (2003) Germline TP53 mutations and Li-Fraumeni syndrome. Hum Mutat 21: 313-320
34. Wang-Gohrke S, Rebbeck TR, Besenfelder W, Kreienberg R, Runnebaum IB (1998) p53 germline polymorphisms are associated with an increased risk for breast cancer in German women. Anticancer Res 18: 2095-2099
35. Zelada-Hedman M, Borresen-Dale AL, Claro A, Chen J, Skoog L, Lindblom A (1997) Screening for TP53 mutations in patients and tumours from 109 Swedish breast cancer families. Br J Cancer 75: 1201-1204