Value of bilateral breast cancer for identification of rare recessive at-risk alleles: Evidence for the role of homozygous GEN1 c.2515-2519delAAGTT mutation

Familial Cancer

Volumn 12, Issue 1, 2013, Pages 129-132

  Kuligina, Ekatherina Sh ^a   Sokolenko, Anna P ^a,b   Mitiushkina, Nathalia V ^a   Abysheva, Svetlana N ^a   Preobrazhenskaya, Elena V ^a   Gorodnova, Tatiana V ^a   Yanus, Grigoriy A ^a   Togo, Alexandr V ^a   Cherdyntseva, Nadezhda V ^c   Bekhtereva, Svetlana A ^d   Dixon, J Michael ^e   Larionov, Alexey A ^e   Kuznetsov, Sergey G ^f   Imyanitov, Evgeny N ^a,b,g  

^a N N PETROV RESEARCH INSTITUTE OF ONCOLOGY   (Russian Federation)

^b SAINT PETERSBURG STATE PEDIATRIC MEDICAL UNIVERSITY   (Russian Federation)

^c CANCER RESEARCH INSTITUTE   (Russian Federation)

^d Regional Oncological Dispensary   (Russian Federation)

^e UNIVERSITY OF EDINBURGH   (United Kingdom)

^f UNIVERSITY OF HELSINKI   (Finland)

^g NORTH WESTERN STATE MEDICAL UNIVERSITY NAMED AFTER I I MECHNIKOV   (Russian Federation)

Author keywords

Cancer predisposition; Dominant inheritance; Hereditary cancer syndromes; Homozygous mutations; Recessive inheritance

Indexed keywords

AMINO ACID; CROSSOVER JUNCTION ENDODEOXYRIBONUCLEASE; DNA GLYCOSYLASE MUTY;

ARTICLE; AUTOSOMAL RECESSIVE INHERITANCE; BREAST CANCER; CANCER RISK; CANCER SUSCEPTIBILITY; DOMINANT GENE; FAMILIAL CANCER; FAMILY HISTORY; GENE FREQUENCY; GENE MUTATION; GENETIC RISK; GENOTYPE; HOMOZYGOSITY; HUMAN; MULTIPLE CANCER; POLYPOSIS; PRIORITY JOURNAL; RECESSIVE GENE; VERTICAL TRANSMISSION;

ADULT; AGED; AGED, 80 AND OVER; ALLELES; BREAST NEOPLASMS; FEMALE; GENES, RECESSIVE; GENETIC PREDISPOSITION TO DISEASE; HOLLIDAY JUNCTION RESOLVASES; HOMOZYGOTE; HUMANS; MIDDLE AGED; MUTATION; NEOPLASTIC SYNDROMES, HEREDITARY; RISK FACTORS;

EID: 84873389293     PISSN: 13899600     EISSN: 15737292     Source Type: Journal    
DOI: 10.1007/s10689-012-9575-x     Document Type: Article

References (8)

1. Antoniou AC, Easton DF (2003) Polygenic inheritance of breast cancer: implications for design of association studies. Genet Epidemiol 25:190-202
2. Kuligina E, Reiner A, Imyanitov EN, Begg CB (2010) Evaluating cancer epidemiologic risk factors using multiple primary malignancies. Epidemiology 21:366-372
3. Easton DF, Pooley KA, Dunning AM, Pharoah PD, Thompson D, Ballinger DG, Struewing JP, Morrison J, Field H, Luben R, Wareham N, Ahmed S, Healey CS, Bowman R, SEARCH collaborators, Meyer KB, Haiman CA, Kolonel LK, Henderson BE, Le Marchand L, Brennan P, Sangrajrang S, Gaborieau V, Odefrey F, Shen CY, Wu PE, Wang HC, Eccles D, Evans DG, Peto J, Fletcher O, Johnson N, Seal S, Stratton MR, Rahman N, Chenevix-Trench G, Bojesen SE, Nordestgaard BG, Axelsson CK, Garcia-Closas M, Brinton L, Chanock S, Lissowska J, Peplonska B, Nevanlinna H, Fagerholm R, Eerola H, Kang D, Yoo KY, Noh DY, Ahn SH, Hunter DJ, Hankinson SE, Cox DG, Hall P, Wedren S, Liu J, Low YL, Bogdanova N, Schürmann P, Dörk T, Tollenaar RA, Jacobi CE, Devilee P, Klijn JG, Sigurdson AJ, Doody MM, Alexander BH, Zhang J, Cox A, Brock IW, MacPherson G, Reed MW, Couch FJ, Goode EL, Olson JE, Meijers-Heijboer H, van den Ouweland A, Uitterlinden A, Rivadeneira F, Milne RL, Ribas G, Gonzalez-Neira A, Benitez J, Hopper JL, McCredie M, Southey M, Giles GG, Schroen C, Justenhoven C, Brauch H, Hamann U, Ko YD, Spurdle AB, Beesley J, Chen X, kConFab, AOCS Management Group, Mannermaa A, Kosma VM, Kataja V, Hartikainen J, Day NE, Cox DR, Ponder BA (2007) Genome-wide association study identifies novel breast cancer susceptibility loci. Nature 447:1087-1093
4. Rahman N, Seal S, Thompson D, Kelly P, Renwick A, Elliott A, Reid S, Spanova K, Barfoot R, Chagtai T, Jayatilake H, McGuffog L, Hanks S, Evans DG, Eccles D, Breast Cancer Susceptibility Collaboration (UK), Easton DF, Stratton MR (2007) PALB2, which encodes a BRCA2-interacting protein, is a breast cancer susceptibility gene. Nat Genet 39:165-167
5. Wang X, Szabo C, Qian C, Amadio PG, Thibodeau SN, Cerhan JR, Petersen GM, Liu W, Couch FJ (2008) Mutational analysis of thirty-two double-strand DNA break repair genes in breast and pancreatic cancers. Cancer Res 68:971-975
6. Robson M, Offit K (2010) Inherited predisposition to cancer: introduction and overview. Hematol Oncol Clin North Am 24:793-797
7. Poulsen ML, Bisgaard ML (2008) MUTYH associated polyposis (MAP). Curr Genomics 9:420-435
8. Turnbull C, Hines S, Renwick A, Hughes D, Pernet D, Elliott A, Seal S, Warren-Perry M, Gareth Evans D, Eccles D, Breast Cancer Susceptibility Collaboration UK, Stratton MR, Rahman N (2010) Mutation and association analysis of GEN1 in breast cancer susceptibility. Breast Cancer Res Treat 124:283-288