Journal ArticleDOI
Genetic Mapping of a Locus Predisposing to Human Colorectal Cancer
Päivi Peltomäki,Lauri A. Aaltonen,Pertti Sistonen,Lea Pylkkänen,Jukka-Pekka Mecklin,Heikki Järvinen,Jane Green,Jeremy R. Jass,James L. Weber,Fredrick S. Leach,Gloria M. Petersen,Stanley R. Hamilton,Albert de la Chapelle,Bert Vogelstein +13 more
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TLDR
Results prove the existence of a genetically determined predisposition to colorectal cancer that has important ramifications for understanding and preventing this disease.Abstract:
Genetic linkage analysis was used to determine whether a specific chromosomal locus could be implicated in families with a history of early onset cancer but with no other unique features. Close linkage of disease to anonymous microsatellite markers on chromosome 2 was demonstrated in two large kindreds. The pairwise lod scores for linkage to marker D2S123 in these kindreds were 6.39 and 1.45 at zero recombination, and multipoint linkage with flanking markers resulted in lod scores of 6.47 and 6.01. These results prove the existence of a genetically determined predisposition to colorectal cancer that has important ramifications for understanding and preventing this disease.read more
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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
Genetic instabilities in human cancers
TL;DR: There is now evidence that most cancers may indeed be genetically unstable, but that the instability exists at two distinct levels, and recognition and comparison of these instabilities are leading to new insights into tumour pathogenesis.
Journal Article
A National Cancer Institute Workshop on Microsatellite Instability for Cancer Detection and Familial Predisposition: Development of International Criteria for the Determination of Microsatellite Instability in Colorectal Cancer
C. Richard Boland,Stephen N. Thibodeau,Stanley R. Hamilton,David Sidransky,James R. Eshleman,Randall W. Burt,Stephen J. Meltzer,Miguel A. Rodriguez-Bigas,Riccardo Fodde,G. Nadia Ranzani,Sudhir Srivastava +10 more
TL;DR: The spectrum of microsatellite alterations in noncolonic tumors was reviewed, and it was concluded that the above recommendations apply only to colorectal neoplasms.
sources and effects of ionizing radiation
TL;DR: This annex is aimed at providing a sound basis for conclusions regarding the number of significant radiation accidents that have occurred, the corresponding levels of radiation exposures and numbers of deaths and injuries, and the general trends for various practices, in the context of the Committee's overall evaluations of the levels and effects of exposure to ionizing radiation.
Journal ArticleDOI
The human mutator gene homolog MSH2 and its association with hereditary nonpolyposis colon cancer.
Richard Fishel,Mary Kay Lescoe,M.R.S. Rao,Neal G. Copeland,Nancy A. Jenkins,Judy Garber,Michael F. Kane,Richard D. Kolodner +7 more
TL;DR: Data and reports indicating that S. cerevisiae msh2 mutations cause an instability of dinucleotide repeats like those associated with H NPCC suggest that hMSH2 is the HNPCC gene.
References
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Journal ArticleDOI
A genetic model for colorectal tumorigenesis
Eric R. Fearon,Bert Vogelstein +1 more
TL;DR: A model for the genetic basis of colorectal neoplasia that includes the following salient features is presented, which may be applicable to other common epithelial neoplasms, in which tumors of varying stage are more difficult to study.
Journal Article
Abundant class of human DNA polymorphisms which can be typed using the polymerase chain reaction
James L. Weber,P E May +1 more
TL;DR: It is reported that specific human (dC-dA)n.(dG-dT)n blocks are polymorphic in length among individuals and therefore represent a vast new pool of potential genetic markers.
Journal ArticleDOI
Identification and characterization of the familial adenomatous polyposis coli gene
Joanna Groden,Andrew Thliveris,Andrew Thliveris,Wade S. Samowitz,M. Carlson,Lawrence Gelbert,Lawrence Gelbert,Hans Albertsen,Geoff Joslyn,Geoff Joslyn,Jeff Stevens,Jeff Stevens,Lisa Spirio,Margaret Robertson,Margaret Robertson,Leslie Sargeant,Leslie Sargeant,Karen Krapcho,Karen Krapcho,E. Wolff,E. Wolff,Randall W. Burt,John P. Hughes,Janet A. Warrington,John Douglas Mcpherson,John J. Wasmuth,Denis Le Paslier,Hadi Abderrahim,Daniel Cohen,Mark Leppert,Mark Leppert,Ray White,Ray White +32 more
TL;DR: DNA from 61 unrelated patients with adenomatous polyposis coli (APC) was examined for mutations in three genes located within a 100 kb region deleted in two of the patients, and data have established that DP2.5 is the APC gene.
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
Strategies for multilocus linkage analysis in humans.
TL;DR: The results show that considerable economy and efficiency can be brought to the mapping endeavor by resorting to appropriate strategies of detecting linkage and by constructing the human genetic map on a common reference panel of families.