Exome sequencing identifies nonsegregating nonsense ATM and PALB2 variants in familial pancreatic cancer

Human Genomics

Volumn 7, Issue 1, 2013, Pages

  Grant, Robert C ^a   Al Sukhni, Wigdan ^a,b   Borgida, Ayelet E ^c   Holter, Spring ^c   Kanji, Zaheer S ^a   McPherson, Treasa ^a   Whelan, Emily ^a   Serra, Stefano ^d   Trinh, Quang M ^e   Peltekova, Vanya ^e   Stein, Lincoln D ^e   McPherson, John D ^e   Gallinger, Steven ^a,b,c,f  

^a MOUNT SINAI HOSPITAL   (Canada)

^b UNIVERSITY HEALTH NETWORK   (Canada)

^c MOUNT SINAI HOSPITAL   (Canada)

^d UNIVERSITY OF TORONTO   (Canada)

^e ONTARIO INSTITUTE FOR CANCER RESEARCH   (Canada)

^f TORONTO GENERAL HOSPITAL   (Canada)

Author keywords

Carcinogenesis; Genetic counseling; Germline variants; Hereditary cancer; Pancreas cancer

Indexed keywords

ATM PROTEIN; ATM PROTEIN, HUMAN; NUCLEAR PROTEIN; PALB2 PROTEIN, HUMAN; STOP CODON; TUMOR SUPPRESSOR PROTEIN;

ALLELE; ARTICLE; ATM GENE; EXOME; FAMILIAL CANCER; FAMILIAL PANCREATIC CANCER; GENE; GENETIC VARIABILITY; HETEROZYGOSITY LOSS; HUMAN; NONSENSE MUTATION; PALB2 GENE; PANCREAS CANCER; SOMATIC MUTATION; TUMOR SUPPRESSOR GENE; CARCINOMA; CHROMOSOME SEGREGATION; DNA SEQUENCE; FEMALE; GENETIC PREDISPOSITION; GENETICS; MALE; MOLECULAR GENETICS; NUCLEOTIDE SEQUENCE; PANCREAS TUMOR; PEDIGREE; REPRODUCIBILITY; STOP CODON;

ALLELES; ATAXIA TELANGIECTASIA MUTATED PROTEINS; BASE SEQUENCE; CARCINOMA; CHROMOSOME SEGREGATION; CODON, NONSENSE; EXOME; FEMALE; GENETIC PREDISPOSITION TO DISEASE; HUMANS; MALE; MOLECULAR SEQUENCE DATA; NUCLEAR PROTEINS; PANCREATIC NEOPLASMS; PEDIGREE; REPRODUCIBILITY OF RESULTS; SEQUENCE ANALYSIS, DNA; TUMOR SUPPRESSOR PROTEINS;

EID: 84901046440     PISSN: 14739542     EISSN: 14797364     Source Type: Journal    
DOI: 10.1186/1479-7364-7-11     Document Type: Article

References (5)

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