Journal ArticleDOI
Clinical findings with implications for genetic testing in families with clustering of colorectal cancer.
Juul T. Wijnen,H. F. A. Vasen,P M Khan,Aeilko H. Zwinderman,H. van der Klift,Adri Mulder,C. Tops,Pål Møller,Riccardo Fodde,Fred H. Menko,B. G. Taal,Fokko N. Nagengast,Han G. Brunner,Jan H. Kleibeuker,Rolf H. Sijmons,Gerrit Griffioen,Ahjt Brocker-Vriends,Egbert Bakker,van Leeuwen-Cornelisse,A Meijers-Heijboer,Dick Lindhout,Martijn H. Breuning,J.G. Post,C Schaap,Jaran Apold,Ketil Heimdal,Lucio Bertario,Marie Luise Bisgaard,P. Goetz +28 more
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TLDR
Assessment of clinical findings can improve the rate of detection of mutations of DNA mismatch-repair genes in families suspected of having hereditary nonpolyposis colorectal cancer.Abstract:
Background Germ-line mutations in DNA mismatch-repair genes (MSH2, MLH1, PMS1, PMS2, and MSH6 ) cause susceptibility to hereditary nonpolyposis colorectal cancer. We assessed the prevalence of MSH2...read more
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New clinical criteria for hereditary nonpolyposis colorectal cancer (HNPCC, Lynch syndrome) proposed by the International Collaborative group on HNPCC.
TL;DR: The establishment of a set of selection criteria for families with hereditary nonpolyposis colorectal cancer (HNPCC, Lynch syndrome) to provide a basis for uniformity in collaborative studies and a definition of HNPCC was proposed that was aimed at helping clinicians to identify families.
Journal ArticleDOI
Guidelines for colorectal cancer screening and surveillance in moderate and high risk groups (update from 2002)
Stuart Cairns,John H. Scholefield,Robert Steele,Malcolm G. Dunlop,Huw Thomas,Gareth Evans,Jayne Eaden,Matthew D. Rutter,Wendy P Atkin,Brian P. Saunders,Anneke Lucassen,Paul Jenkins,Peter D. Fairclough,Christopher R J Woodhouse,Ireland +14 more
TL;DR: Advice on the appropriateness, method and frequency of screening for people at moderate and high risk from colorectal cancer and for those with inflammatory bowel disease is provided.
Recommendations for the Care of Individuals With an Inherited Predisposition to Lynch Syndrome
Noralane M. Lindor,Gloria M. Petersen,Donald W. Hadley,Anita Y. Kinney,Susan Miesfeldt,Karen H. Lu,Patrick M. Lynch,Wylie Burke +7 more
TL;DR: Burke et al. as mentioned in this paper published an article in JAMA that set forth recommendations for care of individuals with an inherited predisposition to hereditary nonpolyposis colorectal cancer (HNPCC).
Journal ArticleDOI
Hereditary Cancer Predisposition Syndromes
Judy Garber,Kenneth Offit +1 more
TL;DR: The most common hereditary cancer syndromes, most attributable to genes inherited in an autosomal dominant manner with incomplete penetrance, and a number of rare syndrome in which particular progress has been made are highlighted.
Journal ArticleDOI
Recommendations for the care of individuals with an inherited predisposition to Lynch syndrome: a systematic review.
Noralane M. Lindor,Gloria M. Petersen,Donald W. Hadley,Anita Y. Kinney,Susan Miesfeldt,Karen H. Lu,Patrick M. Lynch,Wylie Burke,Nancy Press +8 more
TL;DR: Current recommendations regarding cancer screening and prevention require careful consultation between clinicians, clinical cancer genetic services, and well-informed patients.
References
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Journal ArticleDOI
Lessons from Hereditary Colorectal Cancer
TL;DR: The authors are grateful to the members of their laboratories for their contributions to the reviewed studies and to F. Giardiello and S. Hamilton for photographs of colorectal lesions.
Journal ArticleDOI
Microsatellite instability in cancer of the proximal colon
TL;DR: Colorectal tumor DNA was examined for somatic instability at (CA)n repeats on human chromosomes 5q, 15q, 17p, and 18q, and this instability was significantly correlated with the tumor's location in the proximal colon and with increased patient survival and loss of heterozygosity.
Journal ArticleDOI
Ubiquitous somatic mutations in simple repeated sequences reveal a new mechanism for colonic carcinogenesis
TL;DR: It is shown that 12 per cent of colorectal carcinomas carry somatic deletions in poly(dA . dT) sequences and other simple repeats, and it is concluded that these mutations reflect a previously undescribed form of carcinogenesis in the colon mediated by a mutation in a DNA replication factor resulting in reduced fidelity for replication or repair (a 'mutator mutation').
Journal ArticleDOI
Clues to the pathogenesis of familial colorectal cancer
Lauri A. Aaltonen,Päivi Peltomäki,Fredrick S. Leach,Pertti Sistonen,Lea Pylkkänen,Jukka-Pekka Mecklin,Heikki Järvinen,Steven M. Powell,Jin Jen,Stanley R. Hamilton,Gloria M. Petersen,Kenneth W. Kinzler,Bert Vogelstein,Albert de la Chapelle +13 more
TL;DR: Molecular features of "familial" cancers were compared with those of sporadic colon cancers, and a mechanism for familial tumorigenesis different from that mediated by classic tumor suppressor genes is suggested.
Journal ArticleDOI
Inactivation of the Type II TGF-β Receptor in Colon Cancer Cells with Microsatellite Instability
Sanford D. Markowitz,Jing Wang,Lois Myeroff,Ramon Parsons,Lu Zhe Sun,James Lutterbaugh,Robert S. Fan,Elizabeth Zborowska,Kenneth W. Kinzler,Bert Vogelstein,Bert Vogelstein,Michael G. Brattain,James K V Willson +12 more
TL;DR: Human colon cancer cell lines with high rates of microsatellite instability were found to harbor mutations in the type II TGF-beta receptor (RII) gene, which links DNA repair defects with a specific pathway of tumor progression.
Related Papers (5)
Revised Bethesda Guidelines for Hereditary Nonpolyposis Colorectal Cancer (Lynch Syndrome) and Microsatellite Instability
Asad Umar,C. Richard Boland,Jonathan P. Terdiman,Sapna Syngal,Albert de la Chapelle,Josef Rüschoff,Richard Fishel,Noralane M. Lindor,Lawrence J. Burgart,Richard Hamelin,Stanley R. Hamilton,Robert A. Hiatt,Jeremy R. Jass,Annika Lindblom,Henry T. Lynch,Päivi Peltomäki,Scott D. Ramsey,Miguel A. Rodriguez-Bigas,Hans F. A. Vasen,Ernest T. Hawk,J. Carl Barrett,Andrew N. Freedman,Sudhir Srivastava +22 more