Predisposition gene identification in common cancers by exome sequencing: Insights from familial breast cancer

Breast Cancer Research and Treatment

Volumn 134, Issue 1, 2012, Pages 429-433

  Snape, Katie ^a   Ruark, Elise ^a   Tarpey, Patrick ^b   Renwick, Anthony ^a   Turnbull, Clare ^a   Seal, Sheila ^a   Murray, Anne ^a   Hanks, Sandra ^a   Douglas, Jenny ^a   Stratton, Michael R ^b   Rahman, Nazneen ^a  

^a INSTITUTE OF CANCER RESEARCH   (United Kingdom)

^b WELLCOME TRUST SANGER INSTITUTE   (United Kingdom)

Author keywords

Breast cancer predisposition; Common disease genetics; Exome sequencing; Missing heritability

Indexed keywords

MUTANT PROTEIN;

ADULT; AGED; ARTICLE; BREAST CANCER; CANCER SUSCEPTIBILITY; CONTROLLED STUDY; EXOME; FEASIBILITY STUDY; FEMALE; GENE FREQUENCY; GENE MUTATION; GENE SEQUENCE; GENETIC PREDISPOSITION; GENETIC VARIABILITY; HUMAN; MAJOR CLINICAL STUDY; PRIORITY JOURNAL; PROTEIN FUNCTION; VALIDATION STUDY;

BREAST NEOPLASMS; CODON, NONSENSE; DNA MUTATIONAL ANALYSIS; EXOME; FEMALE; GENES; GENETIC PREDISPOSITION TO DISEASE; HUMANS;

EID: 84863990269     PISSN: 01676806     EISSN: 15737217     Source Type: Journal    
DOI: 10.1007/s10549-012-2057-x     Document Type: Article

References (14)

1. CS Ku N Naidoo Y Pawitan 2011 Revisiting Mendelian disorders through exome sequencing Hum Genet 129 351 370 21331778 10.1007/s00439-011-0964-2
2. N Rahman S Seal D Thompson P Kelly A Renwick A Elliott S Reid K Spanova R Barfoot T Chagtai, et al. 2007 PALB2, which encodes a BRCA2-interacting protein, is a breast cancer susceptibility gene Nat Genet 39 165 167 17200668 10.1038/ng1959 1:CAS:528:DC%2BD2sXpvFeqsw%3D%3D
3. A Renwick D Thompson S Seal P Kelly T Chagtai M Ahmed B North H Jayatilake R Barfoot K Spanova, et al. 2006 ATM mutations that cause ataxia-telangiectasia are breast cancer susceptibility alleles Nat Genet 38 873 875 16832357 10.1038/ng1837 1:CAS:528:DC%2BD28XnsVChu7Y%3D
4. S Seal D Thompson A Renwick A Elliott P Kelly R Barfoot T Chagtai H Jayatilake M Ahmed K Spanova, et al. 2006 Truncating mutations in the Fanconi anemia J gene BRIP1 are low-penetrance breast cancer susceptibility alleles Nat Genet 38 1239 1241 17033622 10.1038/ng1902 1:CAS:528:DC%2BD28XhtFeisbjJ
5. H Meijers-Heijboer A van den Ouweland J Klijn M Wasielewski A de Snoo R Oldenburg A Hollestelle M Houben E Crepin M van Veghel-Plandsoen, et al. 2002 Low-penetrance susceptibility to breast cancer due to CHEK2(*)1100delC in noncarriers of BRCA1 or BRCA2 mutations Nat Genet 31 55 59 11967536 10.1038/ng879 1:CAS:528:DC%2BD38Xjt1Kns78%3D
6. C Turnbull N Rahman 2008 Genetic predisposition to breast cancer: past, present, and future Annu Rev Genomics Hum Genet 9 321 345 18544032 10.1146/annurev.genom.9.081307.164339 1:CAS:528:DC%2BD1cXht1SnsbbO
7. K Snape S Hanks E Ruark P Barros-Nunez A Elliott A Murray AH Lane N Shannon P Callier D Chitayat, et al. 2011 Mutations in CEP57 cause mosaic variegated aneuploidy syndrome Nat Genet 43 527 529 21552266 10.1038/ng.822 1:CAS:528:DC%2BC3MXlvVahtbs%3D
8. AJ Coffey F Kokocinski MS Calafato CE Scott P Palta E Drury CJ Joyce EM Leproust J Harrow S Hunt, et al. 2011 The GENCODE exome: sequencing the complete human exome Eur J Hum Genet 19 827 831 21364695 10.1038/ejhg.2011.28 1:CAS:528:DC%2BC3MXnsFKrurs%3D
9. J Chen EE Bardes BJ Aronow AG Jegga 2009 ToppGene suite for gene list enrichment analysis and candidate gene prioritization Nucleic Acids Res 37 W305 W311 19465376 10.1093/nar/gkp427 1:CAS:528:DC%2BD1MXosFSrs7g%3D
10. AC Antoniou DF Easton 2003 Polygenic inheritance of breast cancer: implications for design of association studies Genet Epidemiol 25 190 202 14557987 10.1002/gepi.10261
11. BJ Feng SV Tavtigian MC Southey DE Goldgar 2011 Design considerations for massively parallel sequencing studies of complex human disease PLoS ONE 6 e23221 21850262 10.1371/journal.pone.0023221 1:CAS:528:DC%2BC3MXhtFajt7fN
12. T Walsh S Casadei MK Lee CC Pennil AS Nord AM Thornton W Roeb KJ Agnew SM Stray A Wickramanayake, et al. 2011 Mutations in 12 genes for inherited ovarian, fallopian tube, and peritoneal carcinoma identified by massively parallel sequencing Proc Natl Acad Sci USA 108 44 18032 18037 22006311 10.1073/pnas.1115052108 1:CAS:528:DC%2BC3MXhsVOktLbN
13. CE Yu J Oshima YH Fu EM Wijsman F Hisama R Alisch S Matthews J Nakura T Miki S Ouais, et al. 1996 Positional cloning of the Werner's syndrome gene Science 272 258 262 8602509 10.1126/science.272.5259.258 1:CAS:528: DyaK28Xit1KqsL8%3D
14. DG MacArthur C Tyler-Smith 2010 Loss-of-function variants in the genomes of healthy humans Hum Mol Genet 19 R125 R130 20805107 10.1093/hmg/ddq365 1:CAS:528:DC%2BC3cXhsFSnsrbL