Low Allele Frequency of MLH1 D132H in American Colorectal and Endometrial Cancer Patients
dc.contributor.author | Chen, Huiping | en_US |
dc.contributor.author | Rennert, Gad | en_US |
dc.contributor.author | Peel, David J. | en_US |
dc.contributor.author | Paxton, Leslie | en_US |
dc.contributor.author | Rozek, Laura S. | en_US |
dc.contributor.author | Shin, Brian Y. | en_US |
dc.contributor.author | Lipkin, Steve M. | en_US |
dc.contributor.author | Goodfellow, Paul J. | en_US |
dc.contributor.author | Gruber, Stephen B. | en_US |
dc.contributor.author | Mutch, David G. | en_US |
dc.contributor.author | Anton-Culver, Hoda | en_US |
dc.date.accessioned | 2006-09-08T19:12:45Z | |
dc.date.available | 2006-09-08T19:12:45Z | |
dc.date.issued | 2005-09 | en_US |
dc.identifier.citation | Shin, Brian Y.; Chen, Huiping; Rozek, Laura S.; Paxton, Leslie; Peel, David J.; Anton-Culver, Hoda; Rennert, Gad; Mutch, David G.; Goodfellow, Paul J.; Gruber, Stephen B.; Lipkin, Steve M.; (2005). "Low Allele Frequency of MLH1 D132H in American Colorectal and Endometrial Cancer Patients." Diseases of the Colon & Rectum 48(9): 1723-1727. <http://hdl.handle.net/2027.42/41396> | en_US |
dc.identifier.issn | 0012-3706 | en_US |
dc.identifier.issn | 1530-0358 | en_US |
dc.identifier.uri | https://hdl.handle.net/2027.42/41396 | |
dc.identifier.uri | http://www.ncbi.nlm.nih.gov/sites/entrez?cmd=retrieve&db=pubmed&list_uids=15991064&dopt=citation | en_US |
dc.description.abstract | Hereditary nonpolyposis colon cancer is caused by mutations in DNA mismatch repair genes, predominantly MLH1 and MSH2 . Classic MLH1 mutations cause an approximately 20-fold increase in colorectal cancer susceptibility. Recently, we identified a hypomorphic allele, MLH1 D132H , which impairs, but does not completely eliminate the function of MLH1 in tumor suppression. MLH1 D132H confers an approximately fivefold increase in colorectal cancer susceptibility and was first described in a cohort of Israeli colorectal cancer patients, with an estimated allele frequency of 1.3 percent. Because MLH1 D132H has only recently been described, the ethnic distribution of this risk allele is not well understood. This study was undertaken to determine both the frequencies of this risk allele in ethnic groups outside of Israel and whether families harboring this mutation have susceptibility to extracolonic cancers in the hereditary nonpolyposis colon cancer spectrum. | en_US |
dc.format.extent | 98980 bytes | |
dc.format.extent | 3115 bytes | |
dc.format.mimetype | application/pdf | |
dc.format.mimetype | text/plain | |
dc.language.iso | en_US | |
dc.publisher | Springer-Verlag; The American Society of Colon and Rectal Surgeons | en_US |
dc.subject.other | Surgical Oncology | en_US |
dc.subject.other | Colorectal Surgery | en_US |
dc.subject.other | Surgery | en_US |
dc.subject.other | Medicine & Public Health | en_US |
dc.subject.other | Cancer Genetics | en_US |
dc.subject.other | Endometrial Cancer | en_US |
dc.subject.other | Oncology | en_US |
dc.subject.other | MLH1 | en_US |
dc.subject.other | Gastroenterology | en_US |
dc.subject.other | Colorectal Cancer | en_US |
dc.title | Low Allele Frequency of MLH1 D132H in American Colorectal and Endometrial Cancer Patients | en_US |
dc.type | Article | en_US |
dc.subject.hlbsecondlevel | Internal Medicine and Specialities | en_US |
dc.subject.hlbtoplevel | Health Sciences | en_US |
dc.description.peerreviewed | Peer Reviewed | en_US |
dc.contributor.affiliationum | Department of Medicine, University of Michigan, Ann Arbor, Michigan; Department of Epidemiology, University of Michigan, Ann Arbor, Michigan | en_US |
dc.contributor.affiliationum | Department of Medicine, University of Michigan, Ann Arbor, Michigan; Department of Epidemiology, University of Michigan, Ann Arbor, Michigan | en_US |
dc.contributor.affiliationother | Division of Hematology/Oncology, Department of Medicine, University of California Irvine, Irvine, California | en_US |
dc.contributor.affiliationother | Department of Community Medicine and Epidemiology, Carmel Medical Center and Technion Faculty Medicine, Haifa, Israel | en_US |
dc.contributor.affiliationother | Division of Epidemiology, Department of Medicine, University of California Irvine, Irvine, California | en_US |
dc.contributor.affiliationother | Department of Medicine, University of California Irvine, Irvine, California | en_US |
dc.contributor.affiliationother | Department of Surgery and Obstetrics/Gynecology, Washington University School of Medicine, St. Louis, Missouri | en_US |
dc.contributor.affiliationother | Division of Epidemiology, Department of Medicine, University of California Irvine, Irvine, California | en_US |
dc.contributor.affiliationother | Division of Hematology/Oncology, Department of Medicine, University of California Irvine, Irvine, California; Division of Epidemiology, Department of Medicine, University of California Irvine, Irvine, California | en_US |
dc.contributor.affiliationother | Department of Surgery and Obstetrics/Gynecology, Washington University School of Medicine, St. Louis, Missouri | en_US |
dc.contributor.affiliationother | Department of Surgery and Obstetrics/Gynecology, Washington University School of Medicine, St. Louis, Missouri | en_US |
dc.contributor.affiliationumcampus | Ann Arbor | en_US |
dc.identifier.pmid | 15991064 | en_US |
dc.description.bitstreamurl | http://deepblue.lib.umich.edu/bitstream/2027.42/41396/1/10350_2005_Article_123.pdf | en_US |
dc.identifier.doi | http://dx.doi.org/10.1007/s10350-005-0123-8 | en_US |
dc.identifier.source | Diseases of the Colon & Rectum | en_US |
dc.owningcollname | Interdisciplinary and Peer-Reviewed |
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