Detailed haplotype analysis at the TP53 locus in p.R337H mutation carriers in the population of Southern Brazil: Evidence for a founder effect

Human Mutation

Volumn 31, Issue 2, 2010, Pages 143-150

  Garritano, Sonia ^a,b   Gemignani, Federica ^b   Palmero, Edenir Inez ^a   Olivier, Magali ^a   Martel Planche, Ghyslaine ^a   Calvez Kelm, Florence Le ^a   Brugiéres, Laurence ^c   Vargas, Fernando Regla ^d   Brentani, Ricardo Renzo ^e   Ashton Prolla, Patricia ^f,g   Landi, Stefano ^b   Tavtigian, Sean V ^a   Hainaut, Pierre ^a   Achatz, Maria Isabel W ^e  

^a INTERNATIONAL AGENCY FOR RESEARCH ON CANCER   (France)

^b UNIVERSITY OF PISA   (Italy)

^c INSTITUT GUSTAVE ROUSSY   (France)

^d INSTITUTO NACIONAL DE CÂNCER   (Brazil)

^e A C CAMARGO CANCER CENTER   (Brazil)

^f FEDERAL UNIVERSITY OF RIO GRANDE DO SUL   (Brazil)

^g HOSPITAL DE CLÍNICAS DE PORTO ALEGRE   (Brazil)

Author keywords

Founder effect; Germline mutation; Li Fraumeni syndrome; p.R337H; TP53

Indexed keywords

PROTEIN P53;

ALLELE; ARTICLE; BRAZIL; CANCER RISK; CHILD; CLINICAL ARTICLE; CONTROLLED STUDY; FAMILIAL CANCER; FEMALE; FOUNDER EFFECT; GENE LOCUS; GENE MUTATION; GENE SEQUENCE; GENOTYPE; HAPLOTYPE; HETEROZYGOSITY LOSS; HETEROZYGOTE; HUMAN; MULTIPLE CANCER; POLYMERASE CHAIN REACTION; POPULATION GENETICS; PRIORITY JOURNAL; PROBABILITY; SCHOOL CHILD; SINGLE NUCLEOTIDE POLYMORPHISM;

ADOLESCENT; ADULT; AMINO ACID SUBSTITUTION; BASE SEQUENCE; BRAZIL; CHILD; CHILD, PRESCHOOL; DNA MUTATIONAL ANALYSIS; FEMALE; FOUNDER EFFECT; GENETIC LOCI; GENETICS, POPULATION; HAPLOTYPES; HETEROZYGOTE; HUMANS; INFANT; LINKAGE DISEQUILIBRIUM; MALE; MIDDLE AGED; MOLECULAR SEQUENCE DATA; MUTATION; NEOPLASMS; PEDIGREE; POLYMORPHISM, SINGLE NUCLEOTIDE; TUMOR SUPPRESSOR PROTEIN P53; YOUNG ADULT;

EID: 75149183689     PISSN: 10597794     EISSN: 10981004     Source Type: Journal    
DOI: 10.1002/humu.21151     Document Type: Article

References (29)

1. Achatz MI, Hainaut P, Ashton Prolla P. 2009. A highly prevalent TP53 mutation predisposing to multiple cancers in the Brazilian population: case for newborn screening ? Lancet Oncol 10:920-925.
2. Achatz MI, Olivier M, Le CF, Martel-Planche G, Lopes A, Rossi BM, Ashton-Prolla P, Giugliani R, Palmero EI, Vargas FR, Da Rocha JC, Vettore AL, Hainaut P. 2007. The TP53 mutation, R337H, is associated with Li-Fraumeni and Li-Fraumenilike syndromes in Brazilian families. Cancer Lett 245:96-102.
3. Assumpcao JG, Seidinger AL, Mastellaro MJ, Ribeiro RC, Zambetti GP, Ganti R, Srivastava K, Shurtleff S, Pei D, Zeferino LC, Dufloth RM, Brandalise SR, Yunes JA. 2008. Association of the germline TP53 R337H mutation with breast cancer in southern Brazil. BMC Cancer 8:357.
4. Barrett JC, Fry B, Maller J, Daly MJ. 2005. Haploview: analysis and visualization of LD and haplotype maps. Bioinformatics 21:263-265.
5. Birch JM, Alston RD,McNally RJ, Evans DG, Kelsey AM, HarrisM, EdenOB, Varley JM. 2001. Relative frequency and morphology of cancers in carriers of germline TP53 mutations. Oncogene 20:4621-4628.
6. Bougeard G, Brugieres L, Chompret A, Gesta P, Charbonnier F, Valent A, Martin C, Raux G, Feunteun J, Bressac-de PB, Frebourg T. 2003. Screening for TP53 rearrangements in families with the Li-Fraumeni syndrome reveals a complete deletion of the TP53 gene. Oncogene 22:840-846.
7. Bougeard G, Sesboue R, Baert-Desurmont S, Vasseur S, Martin C, Tinat J, Brugieres L, Chompret A, de Paillerets BB, Stoppa-Lyonnet D, Bonaiti-Pellie, Frebourg T, French LFSworking group. 2008.Molecular basis of the Li-Fraumeni syndrome: an update from the French LFS families. J Med Genet 45:535-538.
8. CampaD,McKay J, SinilnikovaO,Husing A,VogelU,Hansen RD, Overvad K,Witt PM, Clavel-Chapelon F, Boutron-Ruault MC, Chajes V, Rohrmann S, Chang-Claude J, Boeing H, Fisher E, Trichpoulou A, Trichopoulous D, Palli D, Villarini A, Sacerdote C, Mattiello A, Tumino R, Peeters PH, van Gils CH, Bas Bueno-de-Mesquita H, Lund E, Chirlaque MD, Sala N, Suarez LR, Barricarte A, Dorronsoro M, SanchezMJ, Lenner P,Hallmans G, Tsilidis K, BinghamS,KhawKT, Gallo V, Norat T, Riboli E, Rinaldi S, Lenoir G, Tavtigian SV, Canzian F, Kaaks R. 2009. Genetic variation in genes of the fatty acid synthesis pathway and breast cancer risk. Breast Cancer Res Treat 118:565-574.
9. Chompret A, Brugieres L, Ronsin M, Gardes M, ssarps-Freichey F, Abel A, Hua D, Ligot L, Dondon MG, Bressac-de PB, Frebourg T, Lemerle J, Boaniti-Pellie C, Feunteun J. 2000. P53 germline mutations in childhood cancers and cancer risk for carrier individuals. Br J Cancer 82:1932-1937.
10. DiGiammarino EL, Lee AS, Cadwell C, Zhang W, Bothner B, Ribeiro RC, Zambetti G, Kriwacki RW. 2002. A novel mechanism of tumorigenesis involving pHdependent destabilization of a mutant p53 tetramer. Nat Struct Biol 9:12-16.
11. Figueiredo BC, Sandrini R, Zambetti GP, Pereira RM, Cheng C, Liu W, Lacerda L, Pianovski MA, Michalkiewicz E, Jenkins J, Rodriguez-Galindo C, Mastellaro MJ, Vianna S, Watanabe F, Sandrini F, Arram SB, Boffetta P, Ribeiro RC. 2006. Penetrance of adrenocortical tumours associated with the germline TP53 R337H mutation. J Med Genet 43:91-96.
12. Garritano S, Gemignani F, Voegele C, Nguyen-Dumont T, Le Calvez-Kelm F, De SD, Lesueur F, Landi S, Tavtigian SV. 2009. Determining the effectiveness of high resolution melting analysis for SNP genotyping and mutation scanning at the TP53 locus. BMC Genet 10:5.
13. Gonzalez KD, Noltner KA, Buzin CH, Gu D, Wen-Fong CY, Nguyen VQ, Han JH, Lowstuter K, Longmate J, Sommer SS, Weitzel JN. 2009. Beyond Li Fraumeni Syndrome: clinical characteristics of families with p53 germline mutations. J Clin Oncol 27:1250-1256.
14. Hisada M, Garber JE, Fung CY, Fraumeni Jr JF, Li FP. 1998. Multiple primary cancers in families with Li-Fraumeni syndrome. J Natl Cancer Inst 90:606-611.
15. Lalloo F, Varley J, Ellis D, Moran A, O'Dair L, Pharoah P, Evans DG. 2003. Prediction of pathogenic mutations in patients with early-onset breast cancer by family history. Lancet 361:1101-1102.
16. Li FP, Fraumeni Jr JF, Mulvihill JJ, Blattner WA, Dreyfus MG, Tucker MA, Miller RW. 1988. A cancer family syndrome in twenty-four kindreds. Cancer Res 48:5358-5362.
17. Liew M, Pryor R, Palais R, Meadows C, Erali M, Lyon E, Wittwer C. 2004. Genotyping of single-nucleotide polymorphisms by high-resolution melting of small amplicons. Clin Chem 50:1156-1164.
18. Lwin TZ, Durant JJ, Bashford D. 2007. A fluid salt-bridging cluster and the stabilization of p53. J Mol Biol 373:1334-1347.
19. Malkin D, Li FP, Strong LC, Fraumeni Jr JF, Nelson CE, Kim DH, Kassel J, Gryka MA, Bischoff FZ, Tainsky MA. 1990. Germ line p53 mutations in a familial syndrome of breast cancer, sarcomas, and other neoplasms. Science 250:1233-1238.
20. Olivier M, Goldgar DE, Sodha N, Ohgaki H, Kleihues P, Hainaut P, Eeles RA. 2003. Li-Fraumeni and related syndromes: correlation between tumor type, family structure, and TP53 genotype. Cancer Res 63:6643-6650.
21. Palmero EI, Schuler-Faccini L, Caleffi M, Achatz MI, Olivier M, Martel-Planche G, Marcel V, Aguiar E, Giacomazzi J, Ewald IP, Giugliani R, Hainaut P, Ashton-Prolla P. 2008. Detection of R337H, a germline TP53 mutation predisposing to multiple cancers, in asymptomatic women participating in a breast cancer screening program in Southern Brazil. Cancer Lett 261:21-25.
22. Petitjean A, Mathe E, Kato S, Ishioka C, Tavtigian SV, Hainaut P, Olivier M. 2007. Impact of mutant p53 functional properties on TP53 mutation patterns and tumor phenotype: lessons from recent developments in the IARC TP53 database. Hum Mutat 28:622-629.
23. Pinto EM, Billerbeck AE, Villares MC, Domenice S, Mendonca BB, Latronico AC. 2004. Founder effect for the highly prevalent R337H mutation of tumor suppressor p53 in Brazilian patients with adrenocortical tumors. Arq Bras Endocrinol Metabol 48:647-650.
24. Ribeiro RC, Rodriguez-Galindo C, Figueiredo BC, MastellaroMJ,West AN, Kriwacki R, Zambetti GP. 2007. Germline TP53 R337H mutation is not sufficient to establish Li-Fraumeni or Li-Fraumeni-like syndrome. Cancer Lett 247:353-355.
25. Ribeiro RC, Sandrini F, Figueiredo B, Zambetti GP, Michalkiewicz E, Lafferty AR, DeLacerda L, RabinM, Cadwell C, Sampaio G, Cat I, Stratakis CA, Sandrini R. 2001. An inherited p53 mutation that contributes in a tissue-specific manner to pediatric adrenal cortical carcinoma. Proc Natl Acad Sci USA 98:9330-9335.
26. Roa BB, Boyd AA, Volcik K, Richards CS. 1996. Ashkenazi Jewish population frequencies for common mutations in BRCA1 and BRCA2. Nat Genet 14:185-187.
27. Scheet P, Stephens M. 2006. A fast and flexible statistical model for large-scale population genotype data: applications to inferring missing genotypes and haplotypic phase. Am J Hum Genet 78:629-644.
28. Srivastava S, Zou ZQ, Pirollo K, Blattner W, Chang EH. 1990. Germ-line transmission of a mutated p53 gene in a cancer-prone family with Li-Fraumeni syndrome. Nature 348:747-749.
29. Strong LC, Williams WR, Tainsky MA. 1992. The Li-Fraumeni syndrome: from clinical epidemiology to molecular genetics. Am J Epidemiol 135:190-199. Tabori U, Malkin D. 2008. Risk stratification in cancer predisposition syndromes: lessons learned from novel molecular developments in Li-Fraumeni syndrome. Cancer Res 68:2053-2057.