An Evaluation of the Polymorphisms Ins16bp and Arg72Pro in P53 As Breast Cancer Risk Modifiers in BRCA1 and BRCA2 Mutation Carriers

Overview

Journal Br J Cancer

Specialty Oncology

Date 2008 Sep 11

PMID 18781154

Citations 5

Authors

A Osorio

M Pollan

G Pita

R K Schmutzler

B Versmold

C Engel

A Meindl

N Arnold

S Preisler-Adams

D Niederacher

W Hofmann

D Gadzicki

A Jakubowska

U Hamann

J Lubinski

A Toloczko-Grabarek

C Cybulski

T Debniak

G Llort

D Yannoukakos

O Diez

B Peissel

P Peterlongo

P Radice

T Heikkinen

H Nevanlinna

P L Mai

J T Loud

L McGuffog

A C Antoniou

J Benitez

Affiliations

Soon will be listed here.

Abstract

The close functional relationship between p53 and the breast cancer susceptibility genes BRCA1 and BRCA2 has promoted the investigation of various polymorphisms in the p53 gene as possible risk modifiers in BRCA1/2 mutation carriers. Specifically, two polymorphisms in p53, c.97-147ins16bp and p.Arg72Pro have been analysed as putative breast cancer susceptibility variants, and it has been recently reported that a p53 haplotype combining the absence of the 16-bp insertion and the presence of proline at codon 72 (No Ins-72Pro) was associated with an earlier age at the onset of the first primary tumour in BRCA2 mutation carriers in the Spanish population. In this study, we have evaluated this association in a series of 2932 BRCA1/2 mutation carriers from the Consortium of Investigators of Modifiers of BRCA1 and BRCA2.

Citing Articles

No association of TP53 codon 72 and intron 3 16-bp duplication polymorphisms with breast cancer risk in Chinese Han women: new evidence from a population-based case-control investigation.

Hao W, Xu X, Shi H, Zhang C, Chen X Eur J Med Res. 2018; 23(1):47.

PMID: 30309383 PMC: 6180397. DOI: 10.1186/s40001-018-0345-6.

Common Genetic Variation and Breast Cancer Risk-Past, Present, and Future.

Lilyquist J, Ruddy K, Vachon C, Couch F Cancer Epidemiol Biomarkers Prev. 2018; 27(4):380-394.

PMID: 29382703 PMC: 5884707. DOI: 10.1158/1055-9965.EPI-17-1144.

Association of the TP53 codon 72 polymorphism and breast cancer risk: a meta-analysis.

Goncalves M, Borja S, Cordeiro J, Saddi V, Ayres F, Vilanova-Costa C Springerplus. 2015; 3:749.

PMID: 26034701 PMC: 4447735. DOI: 10.1186/2193-1801-3-749.

Association of TP53 PIN3 polymorphism with breast cancer in Moroccan population.

Marouf C, Tazzite A, Diakite B, Jouhadi H, Benider A, Nadifi S Tumour Biol. 2014; 35(12):12403-8.

PMID: 25201062 DOI: 10.1007/s13277-014-2556-y.

The TP53 Arg72Pro and MDM2 309G>T polymorphisms are not associated with breast cancer risk in BRCA1 and BRCA2 mutation carriers.

Sinilnikova O, Antoniou A, Simard J, Healey S, Leone M, Sinnett D Br J Cancer. 2009; 101(8):1456-60.

PMID: 19707196 PMC: 2768437. DOI: 10.1038/sj.bjc.6605279.

References

Jonkers J, Meuwissen R, van der Gulden H, Peterse H, van der Valk M, Berns A . Synergistic tumor suppressor activity of BRCA2 and p53 in a conditional mouse model for breast cancer. Nat Genet. 2001; 29(4):418-25. DOI: 10.1038/ng747. View

Costa S, Pinto D, Pereira D, Rodrigues H, Cameselle-Teijeiro J, Medeiros R . Importance of TP53 codon 72 and intron 3 duplication 16bp polymorphisms in prediction of susceptibility on breast cancer. BMC Cancer. 2008; 8:32. PMC: 2254432. DOI: 10.1186/1471-2407-8-32. View

Burkett K, McNeney B, Graham J . A note on inference of trait associations with SNP haplotypes and other attributes in generalized linear models. Hum Hered. 2004; 57(4):200-6. DOI: 10.1159/000081447. View

Liu X, Holstege H, van der Gulden H, Treur-Mulder M, Zevenhoven J, Velds A . Somatic loss of BRCA1 and p53 in mice induces mammary tumors with features of human BRCA1-mutated basal-like breast cancer. Proc Natl Acad Sci U S A. 2007; 104(29):12111-6. PMC: 1924557. DOI: 10.1073/pnas.0702969104. View

Damin A, Frazzon A, Damin D, Roehe A, Hermes V, Zettler C . Evidence for an association of TP53 codon 72 polymorphism with breast cancer risk. Cancer Detect Prev. 2006; 30(6):523-9. DOI: 10.1016/j.cdp.2006.09.007. View

Suspitsin E, Buslov K, Grigoriev M, Ishutkina J, Ulibina J, Gorodinskaya V . Evidence against involvement of p53 polymorphism in breast cancer predisposition. Int J Cancer. 2002; 103(3):431-3. DOI: 10.1002/ijc.10834. View

Baynes C, Healey C, Pooley K, Scollen S, Luben R, Thompson D . Common variants in the ATM, BRCA1, BRCA2, CHEK2 and TP53 cancer susceptibility genes are unlikely to increase breast cancer risk. Breast Cancer Res. 2007; 9(2):R27. PMC: 1868915. DOI: 10.1186/bcr1669. View

Chenevix-Trench G, Milne R, Antoniou A, Couch F, Easton D, Goldgar D . 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. 2007; 9(2):104. PMC: 1868919. DOI: 10.1186/bcr1670. View

Biros E, Kohut A, Biros I, Kalina I, Bogyiova E, Stubna J . A link between the p53 germ line polymorphisms and white blood cells apoptosis in lung cancer patients. Lung Cancer. 2002; 35(3):231-5. DOI: 10.1016/s0169-5002(01)00446-9. View

10.

Wu X, Zhao H, Amos C, Shete S, Makan N, Hong W . p53 Genotypes and Haplotypes Associated With Lung Cancer Susceptibility and Ethnicity. J Natl Cancer Inst. 2002; 94(9):681-90. DOI: 10.1093/jnci/94.9.681. View

11.

Osorio A, Martinez-Delgado B, Pollan M, Cuadros M, Urioste M, Torrenteras C . A haplotype containing the p53 polymorphisms Ins16bp and Arg72Pro modifies cancer risk in BRCA2 mutation carriers. Hum Mutat. 2006; 27(3):242-8. DOI: 10.1002/humu.20283. View

12.

Antoniou A, Goldgar D, Andrieu N, Chang-Claude J, Brohet R, Rookus M . A weighted cohort approach for analysing factors modifying disease risks in carriers of high-risk susceptibility genes. Genet Epidemiol. 2005; 29(1):1-11. DOI: 10.1002/gepi.20074. View

13.

Dumont P, Leu J, Della Pietra 3rd A, George D, Murphy M . The codon 72 polymorphic variants of p53 have markedly different apoptotic potential. Nat Genet. 2003; 33(3):357-65. DOI: 10.1038/ng1093. View

14.

Martin A, Kanetsky P, Amirimani B, Colligon T, Athanasiadis G, Shih H . Germline TP53 mutations in breast cancer families with multiple primary cancers: is TP53 a modifier of BRCA1?. J Med Genet. 2003; 40(4):e34. PMC: 1735423. DOI: 10.1136/jmg.40.4.e34. View

15.

Ongusaha P, Ouchi T, Kim K, Nytko E, Kwak J, Duda R . BRCA1 shifts p53-mediated cellular outcomes towards irreversible growth arrest. Oncogene. 2003; 22(24):3749-58. DOI: 10.1038/sj.onc.1206439. View

16.

Weston A, Pan C, Ksieski H, Wallenstein S, Berkowitz G, Tartter P . p53 haplotype determination in breast cancer. Cancer Epidemiol Biomarkers Prev. 1997; 6(2):105-12. View

17.

Wang-Gohrke S, Rebbeck T, Besenfelder W, Kreienberg R, Runnebaum I . p53 germline polymorphisms are associated with an increased risk for breast cancer in German women. Anticancer Res. 1998; 18(3B):2095-9. View