Detection of large scale 3′ deletions in the PMS2 gene amongst Colon-CFR participants: Have we been missing anything?

Familial Cancer

Volumn 12, Issue 3, 2013, Pages 563-566

  Clendenning, Mark ^a   Walsh, Michael D ^a   Gelpi, Judith Balmana ^b   Thibodeau, Stephen N ^c   Lindor, Noralane ^d   Potter, John D ^e,f   Newcomb, Polly ^e   Lemarchand, Loic ^g   Haile, Robert ^h   Gallinger, Steve ⁱ   Hopper, John L ^j   Jenkins, Mark A ^j   Rosty, Christophe ^a,k   Young, Joanne P ^a   Buchanan, Daniel D ^a  

^a QIMR BERGHOFER MEDICAL RESEARCH INSTITUTE   (Australia)

^b HOSPITAL UNIVERSITARI VALL D HEBRON   (Spain)

^c MAYO CLINIC   (United States)

^d MAYO CLINIC   (United States)

^e Fred Hutchinson Cancer Research Center   (United States)

^f MASSEY UNIVERSITY   (New Zealand)

^g UNIVERSITY OF HAWAII   (United States)

^h UNIVERSITY OF SOUTHERN CALIFORNIA   (United States)

ⁱ CANCER CARE ONTARIO   (Canada)

^j UNIVERSITY OF MELBOURNE   (Australia)

^k UNIVERSITY OF QUEENSLAND   (Australia)

more..

Author keywords

Colorectal cancer; Germline testing; Large deletions; Lynch syndrome; PMS2; Pseudogenes

Indexed keywords

MISMATCH REPAIR PROTEIN PMS2;

ARTICLE; COLORECTAL CANCER; EXON; GENE DELETION; GENETIC SCREENING; HOMOZYGOSITY; IMMUNOHISTOCHEMISTRY; MICROSATELLITE INSTABILITY; MICROSATELLITE MARKER; MULTIPLEX LIGATION DEPENDENT PROBE AMPLIFICATION; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL;

3' UNTRANSLATED REGIONS; ADENOSINE TRIPHOSPHATASES; COLONIC NEOPLASMS; DNA; DNA REPAIR ENZYMES; DNA-BINDING PROTEINS; FAMILY; FEMALE; GENE DELETION; HUMANS; MALE; POLYMERASE CHAIN REACTION; PROGNOSIS; REGISTRIES;

EID: 84885949060     PISSN: 13899600     EISSN: 15737292     Source Type: Journal    
DOI: 10.1007/s10689-012-9597-4     Document Type: Article

References (14)

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