Comparable frequency of BRCA1, BRCA2 and TP53 germline mutations in a multi-ethnic Asian cohort suggests TP53 screening should be offered together with BRCA1/2 screening to early-onset breast cancer patients

Breast Cancer Research

Volumn 14, Issue 2, 2012, Pages

  Lee, Daphne S C ^a   Yoon, Sook Yee ^a   Looi, Lai M ^b   Kang, Peter ^a   Kang, In N ^a   Sivanandan, Kavitta ^a   Ariffin, Hany ^b   Thong, Meow K ^b   Chin, Kin F ^b   Mohd Taib, Nur A ^b   Yip, Cheng Har ^b   Teo, Soo Hwang ^a,b  

^a CANCER RESEARCH INITIATIVES FOUNDATION   (Malaysia)

^b UNIVERSITY MALAYA MEDICAL CENTRE   (Malaysia)

Author keywords

[No Author keywords available]

Indexed keywords

BRCA1 PROTEIN; BRCA2 PROTEIN; PROTEIN P53; BRCA2 PROTEIN, HUMAN;

ADULT; ARTICLE; ASIAN; BONE CANCER; BRAIN TUMOR; BREAST CANCER; CANCER PATIENT; CANCER SCREENING; CASE CONTROL STUDY; COHORT ANALYSIS; DNA SEQUENCE; EARLY CANCER; FAMILY HISTORY; FEMALE; GENETIC IDENTIFICATION; HAPLOTYPE; HETEROZYGOSITY LOSS; HUMAN; MAJOR CLINICAL STUDY; MISSENSE MUTATION; NUCLEOTIDE SEQUENCE; SOFT TISSUE SARCOMA; BREAST TUMOR; ETHNOLOGY; FAMILIAL CANCER; GENETIC PREDISPOSITION; GENETIC SCREENING; GENETICS; MALAYSIA; MUTATION; ONSET AGE; SARCOMA;

ADULT; AGE OF ONSET; BRCA1 PROTEIN; BRCA2 PROTEIN; BREAST NEOPLASMS; CASE-CONTROL STUDIES; COHORT STUDIES; FEMALE; GENETIC PREDISPOSITION TO DISEASE; GENETIC TESTING; GERM-LINE MUTATION; HUMANS; LI-FRAUMENI SYNDROME; LOSS OF HETEROZYGOSITY; MALAYSIA; SARCOMA; TUMOR SUPPRESSOR PROTEIN P53;

EID: 84860754358     PISSN: 14655411     EISSN: 1465542X     Source Type: Journal    
DOI: 10.1186/bcr3172     Document Type: Article

References (25)

1. Walsh T, Casadei S, Coats KH, Swisher E, Stray SM, Higgins J, Roach KC, Mandell J, Lee MK, Ciernikova S, Foretova L, Soucek P, King MC. Spectrum of mutations in BRCA1, BRCA2, CHEK2, and TP53 in families at high risk of breast cancer. JAMA 2006, 295:1379-1388. 10.1001/jama.295.12.1379, 16551709.
2. Brosh R, Rotter V. When mutants gain new powers: news from the mutant p53 field. Nat Rev Cancer 2009, 9:701-713.
3. Malkin D, Li FP, Strong LC, Fraumeni JF, Nelson CE, Kim DH, Kassel J, Gryka MA, Bischoff FZ, Tainsky MA, Friend SH. Germ line p53 mutations in a familial syndrome of breast cancer, sarcomas, and other neoplasms. Science 1990, 250:1233-1238. 10.1126/science.1978757, 1978757.
4. Hwang SJ, Lozano G, Amos CI, Strong LC. Germline p53 mutations in a cohort with childhood sarcoma: sex differences in cancer risk. Am J Hum Genet 2003, 72:975-983. 10.1086/374567, 1180359, 12610779.
5. Birch JM, Alston RD, McNally RJ, Evans DG, Kelsey AM, Harris M, Eden OB, Varley JM. Relative frequency and morphology of cancers in carriers of germline TP53 mutations. Oncogene 2001, 20:4621-4628. 10.1038/sj.onc.1204621, 11498785.
6. Chompret A, Abel A, Stoppa-Lyonnet D, Brugieres L, Pages S, Feunteun J, Bonaiti-Pellie C. Sensitivity and predictive value of criteria for p53 germline mutation screening. J Med Genet 2001, 38:43-47. 10.1136/jmg.38.1.43, 1734716, 11332399.
7. Kleihues P, Schauble B, zur Hausen A, Esteve J, Ohgaki H. Tumors associated with p53 germline mutations: a synopsis of 91 families. Am J Pathol 1997, 150:1-13. 1858532, 9006316.
8. Gonzalez KD, Noltner KA, Buzin CH, Gu D, Wen-Fong CY, Nguyen VQ, Han JH, Lowstuter K, Longmate J, Sommer SS, Weitzel JN. Beyond Li Fraumeni Syndrome: clinical characteristics of families with p53 germline mutations. J Clin Oncol 2009, 27:1250-1256. 10.1200/JCO.2008.16.6959, 19204208.
9. Ruijs MW, Verhoef S, Rookus MA, Pruntel R, van der Hout AH, Hogervorst FB, Kluijt I, Sijmons RH, Aalfs CM, Wagner A, Ausems MGEM, Hoogerbrugge N, van Asperen CJ, Gomez Garcia EB, Meijers-Heijboer H, ten Kate LP, Menko FH, van't Veer LJ. TP53 germline mutation testing in 180 families suspected of Li-Fraumeni syndrome: mutation detection rate and relative frequency of cancers in different familial phenotypes. J Med Genet 2010, 47:421-428. 10.1136/jmg.2009.073429, 20522432.
10. Mouchawar J, Korch C, Byers T, Pitts TM, Li E, McCredie MR, Giles GG, Hopper JL, Southey MC. Population-based estimate of the contribution of TP53 mutations to subgroups of early-onset breast cancer: Australian Breast Cancer Family Study. Cancer Res 2010, 70:4795-4800. 10.1158/0008-5472.CAN-09-0851, 3228832, 20501846.
11. Lalloo F, Varley J, Moran A, Ellis D, O'Dair L, Pharoah P, Antoniou A, Hartley R, Shenton A, Seal S, Bulman B, Howell A, Evans DGR. BRCA1, BRCA2 and TP53 mutations in very early-onset breast cancer with associated risks to relatives. Eur J Cancer 2006, 42:1143-1150. 10.1016/j.ejca.2005.11.032, 16644204.
12. Thirthagiri E, Lee SY, Kang P, Lee DS, Toh GT, Selamat S, Yoon SY, Taib NA, Thong MK, Yip CH, Teo SH. Evaluation of BRCA1 and BRCA2 mutations and risk-prediction models in a typical Asian country (Malaysia) with a relatively low incidence of breast cancer. Breast Cancer Res 2008, 10:R59. 10.1186/bcr2118, 2575532, 18627636.
13. Kurian AW, Gong GD, Chun NM, Mills MA, Staton AD, Kingham KE, Crawford BB, Lee R, Chan S, Donlon SS, Ridge Y, Panabaker K, West DW, Whittemore AS, Ford JM. Performance of BRCA1/2 mutation prediction models in Asian Americans. J Clin Oncol 2008, 26:4752-4758. 10.1200/JCO.2008.16.8310, 2653135, 18779604.
14. Yoon SY, Thong MK, Taib NA, Yip CH, Teo SH. Genetic counseling for patients and families with hereditary breast and ovarian cancer in a developing Asian country: an observational descriptive study. Fam Cancer 2011, 10:199-205. 10.1007/s10689-011-9420-7, 21318382.
15. Toh GT, Kang P, Lee SS, Lee DS, Lee SY, Selamat S, Mohd Taib NA, Yoon SY, Yip CH, Teo SH. BRCA1 and BRCA2 germline mutations in Malaysian women with early-onset breast cancer without a family history. PloS one 2008, 3:e2024. 10.1371/journal.pone.0002024, 2295262, 18431501.
16. Pinto EM, Billerbeck AE, Villares MC, Domenice S, Mendonca BB, Latronico AC. Founder effect for the highly prevalent R337H mutation of tumor suppressor p53 in Brazilian patients with adrenocortical tumors. Arq Bras Endocrinol Metabol 2004, 48:647-650.
17. Murthy SK, DiFrancesco LM, Ogilvie RT, Demetrick DJ. Loss of heterozygosity associated with uniparental disomy in breast carcinoma. Mod Pathol 2002, 15:1241-1250. 10.1097/01.MP.0000032535.62750.D1, 12481003.
18. Petitjean A, Mathe E, Kato S, Ishioka C, Tavtigian SV, Hainaut P, Olivier M. Impact of mutant p53 functional properties on TP53 mutation patterns and tumor phenotype: lessons from recent developments in the IARC TP53 database. Hum Mutat 2007, 28:622-629. 10.1002/humu.20495, 17311302.
19. Ariffin H, Martel-Planche G, Daud SS, Ibrahim K, Hainaut P. Li-Fraumeni syndrome in a Malaysian kindred. Cancer Genet Cytogenet 2008, 186:49-53. 10.1016/j.cancergencyto.2008.06.004, 18786442.
20. Wilson JR, Bateman AC, Hanson H, An Q, Evans G, Rahman N, Jones JL, Eccles DM. A novel HER2-positive breast cancer phenotype arising from germline TP53 mutations. J Med Genet 2010, 47:771-774. 10.1136/jmg.2010.078113, 20805372.
21. Melhem-Bertrandt A, Bojadzieva J, Ready KJ, Obeid E, Liu DD, Gutierrez-Barrera AM, Litton JK, Olopade OI, Hortobagyi GN, Strong LC, Arun BK. Early onset HER2-positive breast cancer is associated with germline TP53 mutations. Cancer 2011, 118:908-913.
22. Sidransky D, Tokino T, Helzlsouer K, Zehnbauer B, Rausch G, Shelton B, Prestigiacomo L, Vogelstein B, Davidson N. Inherited p53 gene mutations in breast cancer. Cancer Res 1992, 52:2984-2986.
23. Ang P, Lim IH, Yong RY, Lee AS. A molecular approach for identifying individuals with Li-Fraumeni syndrome who have a limited family history. Clin Genet 2009, 75:294-297.
24. Hung J, Mims B, Lozano G, Strong L, Harvey C, Chen TT, Stastny V, Tomlinson G. TP53 mutation and haplotype analysis of two large African American families. Hum Mutat 1999, 14:216-221. 10.1002/(SICI)1098-1004(1999)14:3<216::AID-HUMU4>3.0.CO;2-X, 10477429.
25. The National Comprehensive Cancer Network (NCNN) Guidelines for Detection, Prevention & Risk reduction; Genetic/Familial High-Risk Assessment:Breast and Ovarian, Li-Fraumeni Syndrome ver 1.2011. , http://www.nccn.org/professionals/physician_gls/f_guidelines.asp