Determining the frequency of de novo germline mutations in DNA mismatch repair genes

Journal of Medical Genetics

Volumn 48, Issue 8, 2011, Pages 530-534

  Win, Aung K O ^a   Jenkins, Mark A ^a   Buchanan, Daniel D ^b   Clendenning, Mark ^b   Young, Joanne P ^b,c   Giles, Graham G ^a,d   Goldblatt, Jack ^e   Leggett, Barbara A ^f,g   Hopper, John L ^a   Thibodeau, Stephen N ^h   Lindor, Noralane M ^h  

^a UNIVERSITY OF MELBOURNE   (Australia)

^b QIMR BERGHOFER MEDICAL RESEARCH INSTITUTE   (Australia)

^c UNIVERSITY OF QUEENSLAND   (Australia)

^d CANCER EPIDEMIOLOGY CENTRE   (Australia)

^e UNIVERSITY OF WESTERN AUSTRALIA   (Australia)

^f ROYAL BRISBANE AND WOMEN'S HOSPITAL   (Australia)

^g Women's Hospital Research Foundation ^*  (Australia)

^h MAYO CLINIC   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

DNA MISMATCH REPAIR PROTEIN MMR; MISMATCH REPAIR PROTEIN PMS2; NUCLEIC ACID BINDING PROTEIN; PROTEIN MLH1; PROTEIN MSH2; PROTEIN MSH6; UNCLASSIFIED DRUG;

ADULT; ARTICLE; BLOOD SAMPLING; CANCER INCIDENCE; CANCER REGISTRY; CONTROLLED STUDY; FEMALE; GENE EXPRESSION; GENE LOSS; GENE MUTATION; GENETIC SCREENING; HEREDITARY NONPOLYPOSIS COLORECTAL CANCER; HETEROZYGOTE; HUMAN; IMMUNOHISTOCHEMISTRY; INHERITANCE; MAJOR CLINICAL STUDY; MALE; MICROSATELLITE INSTABILITY; MUTATION RATE; PRIORITY JOURNAL;

ADULT; COLONIC NEOPLASMS; DNA MISMATCH REPAIR; FEMALE; GERM-LINE MUTATION; HETEROZYGOTE; HUMANS; MALE; MIDDLE AGED; PEDIGREE; REGISTRIES;

EID: 79961129429     PISSN: 00222593     EISSN: 14686244     Source Type: Journal    
DOI: 10.1136/jmedgenet-2011-100082     Document Type: Article

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