Exome Sequencing Identifies Rare Deleterious Mutations in DNA Repair Genes FANCC and BLM as Potential Breast Cancer Susceptibility Alleles

PLoS Genetics

Volumn 8, Issue 9, 2012, Pages

  Thompson, Ella R ^a   Doyle, Maria A ^a   Ryland, Georgina L ^a,b   Rowley, Simone M ^a   Choong, David Y H ^a   Tothill, Richard W ^a   Thorne, Heather ^a   Barnes, Daniel R ^c   Li, Jason ^a   Ellul, Jason ^a   Philip, Gayle K ^d   Antill, Yoland C ^a   James, Paul A ^a,e   Trainer, Alison H ^a   Mitchell, Gillian ^a,e   Campbell, Ian G ^a,e  

^a PETER MACCALLUM CANCER CENTRE   (Australia)

^b MONASH UNIVERSITY   (Australia)

^c UNIVERSITY OF CAMBRIDGE   (United Kingdom)

^d Life Sciences Computation Centre   (Australia)

^e UNIVERSITY OF MELBOURNE   (Australia)

Author keywords

[No Author keywords available]

Indexed keywords

ALLELE; ARTICLE; BLM GENE; BLOOM SYNDROME; BREAST CANCER; CANCER SUSCEPTIBILITY; CAUCASIAN; CLINICAL ARTICLE; CONTROLLED STUDY; EXOME; EXON; FAMILY; FANCC GENE; FANCONI ANEMIA; FEMALE; GENE MUTATION; GENE SEQUENCE; GENETIC PREDISPOSITION; GENETIC SCREENING; HETEROZYGOSITY; HUMAN; MALE; NUCLEOTIDE SEQUENCE; SEQUENCE ALIGNMENT; TUMOR GENE; TUMOR SUPPRESSOR GENE;

ALLELES; BREAST NEOPLASMS; EXOME; EXONS; FANCONI ANEMIA COMPLEMENTATION GROUP C PROTEIN; FEMALE; GENETIC PREDISPOSITION TO DISEASE; GENOME, HUMAN; HUMANS; PEDIGREE; POLYMORPHISM, GENETIC; RECQ HELICASES; SEQUENCE ANALYSIS, DNA; SEQUENCE DELETION;

EID: 84866932831     PISSN: 15537390     EISSN: 15537404     Source Type: Journal    
DOI: 10.1371/journal.pgen.1002894     Document Type: Article

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