Literature DB >> 19793575

Genetic testing for hereditary colorectal cancer.

Heather Hampel1.   

Abstract

This article focuses on genetic testing for hereditary colorectal cancer syndromes. Genetic testing is now available in North America for all of the known hereditary colorectal cancer genes. In addition, most of these tests have improved significantly in the past few years with the inclusion of techniques to detect large rearrangements. As a result, clinicians are in a better position than ever to help families with these syndromes to identify the underlying genetic cause. This identification will ensure that they receive appropriate management, and will enable their relatives to determine their precise risks and to tailor their cancer surveillance.

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Year:  2009        PMID: 19793575      PMCID: PMC2821160          DOI: 10.1016/j.soc.2009.08.001

Source DB:  PubMed          Journal:  Surg Oncol Clin N Am        ISSN: 1055-3207            Impact factor:   3.495


  76 in total

1.  Large submicroscopic genomic APC deletions are a common cause of typical familial adenomatous polyposis.

Authors:  S Aretz; D Stienen; S Uhlhaas; C Pagenstecher; E Mangold; R Caspari; P Propping; W Friedl
Journal:  J Med Genet       Date:  2005-02       Impact factor: 6.318

Review 2.  Structure and function of the components of the human DNA mismatch repair system.

Authors:  Thomas Jascur; C Richard Boland
Journal:  Int J Cancer       Date:  2006-11-01       Impact factor: 7.396

3.  Inherited variants of MYH associated with somatic G:C-->T:A mutations in colorectal tumors.

Authors:  Nada Al-Tassan; Nikolas H Chmiel; Julie Maynard; Nick Fleming; Alison L Livingston; Geraint T Williams; Angela K Hodges; D Rhodri Davies; Sheila S David; Julian R Sampson; Jeremy P Cheadle
Journal:  Nat Genet       Date:  2002-01-30       Impact factor: 38.330

4.  Whole-gene APC deletions cause classical familial adenomatous polyposis, but not attenuated polyposis or "multiple" colorectal adenomas.

Authors:  O M Sieber; H Lamlum; M D Crabtree; A J Rowan; E Barclay; L Lipton; S Hodgson; H J W Thomas; K Neale; R K S Phillips; S M Farrington; M G Dunlop; H J Mueller; M L Bisgaard; S Bulow; P Fidalgo; C Albuquerque; M I Scarano; W Bodmer; I P M Tomlinson; K Heinimann
Journal:  Proc Natl Acad Sci U S A       Date:  2002-02-26       Impact factor: 11.205

5.  Molecular analysis of the APC gene in 105 Dutch kindreds with familial adenomatous polyposis: 67 germline mutations identified by DGGE, PTT, and southern analysis.

Authors:  R B van der Luijt; P M Khan; H F Vasen; C M Tops; I S van Leeuwen-Cornelisse; J T Wijnen; H M van der Klift; R J Plug; G Griffioen; R Fodde
Journal:  Hum Mutat       Date:  1997       Impact factor: 4.878

6.  Prediction of germline mutations and cancer risk in the Lynch syndrome.

Authors:  Sining Chen; Wenyi Wang; Shing Lee; Khedoudja Nafa; Johanna Lee; Kathy Romans; Patrice Watson; Stephen B Gruber; David Euhus; Kenneth W Kinzler; Jeremy Jass; Steven Gallinger; Noralane M Lindor; Graham Casey; Nathan Ellis; Francis M Giardiello; Kenneth Offit; Giovanni Parmigiani
Journal:  JAMA       Date:  2006-09-27       Impact factor: 56.272

7.  Peutz-Jeghers families unlinked to STK11/LKB1 gene mutations are highly predisposed to primitive biliary adenocarcinoma.

Authors:  S Olschwang; C Boisson; G Thomas
Journal:  J Med Genet       Date:  2001-06       Impact factor: 6.318

8.  Three submicroscopic deletions at the APC locus and their rapid detection by quantitative-PCR analysis.

Authors:  M De Rosa; M I Scarano; L Panariello; N Carlomagno; G B Rossi; A Tempesta; P Borgheresi; A Renda; P Izzo
Journal:  Eur J Hum Genet       Date:  1999-09       Impact factor: 4.246

Review 9.  Cowden syndrome: a critical review of the clinical literature.

Authors:  Robert Pilarski
Journal:  J Genet Couns       Date:  2008-10-30       Impact factor: 2.537

10.  Replication errors in benign and malignant tumors from hereditary nonpolyposis colorectal cancer patients.

Authors:  L A Aaltonen; P Peltomäki; J P Mecklin; H Järvinen; J R Jass; J S Green; H T Lynch; P Watson; G Tallqvist; M Juhola
Journal:  Cancer Res       Date:  1994-04-01       Impact factor: 12.701

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  7 in total

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

Authors:  Aung Ko Win; Mark A Jenkins; Daniel D Buchanan; Mark Clendenning; Joanne P Young; Graham G Giles; Jack Goldblatt; Barbara A Leggett; John L Hopper; Stephen N Thibodeau; Noralane M Lindor
Journal:  J Med Genet       Date:  2011-06-02       Impact factor: 6.318

2.  Universal tumor screening for Lynch syndrome: perspectives of Canadian pathologists and genetic counselors.

Authors:  Elizabeth Dicks; Daryl Pullman; Ken Kao; Andrée MacMillan; Charlene Simmonds; Holly Etchegary
Journal:  J Community Genet       Date:  2018-11-21

Review 3.  Genetic counseling considerations in the evaluation of families for Lynch syndrome--a review.

Authors:  Scott M Weissman; Cecelia Bellcross; Christina Chimera Bittner; Mary E Freivogel; Joy Larsen Haidle; Pardeep Kaurah; Anna Leininger; Selvi Palaniappan; Kelle Steenblock; Thuy M Vu; Molly S Daniels
Journal:  J Genet Couns       Date:  2010-10-08       Impact factor: 2.537

4.  Evaluation of clinical criteria for the identification of Lynch syndrome among unselected patients with endometrial cancer.

Authors:  Amanda S Bruegl; Bojana Djordjevic; Brittany Batte; Molly Daniels; Bryan Fellman; Diana Urbauer; Rajyalakshmi Luthra; Charlotte Sun; Karen H Lu; Russell R Broaddus
Journal:  Cancer Prev Res (Phila)       Date:  2014-04-25

5.  Targeted deep-intronic sequencing in a cohort of unexplained cases of suspected Lynch syndrome.

Authors:  Dimitrij Frishman; Elke Holinski-Feder; Anke Marie Arnold; Monika Morak; Anna Benet-Pagès; Andreas Laner
Journal:  Eur J Hum Genet       Date:  2019-12-10       Impact factor: 4.246

6.  Knowledge, Awareness, and Perception of Genetic Testing for Hereditary Disorders Among Malaysians in Klang Valley.

Authors:  Jia-Jia Chin; Hong-Wai Tham
Journal:  Front Genet       Date:  2020-12-03       Impact factor: 4.599

7.  Genetic Testing and/or Counseling for Colorectal Cancer by Health Insurance Type.

Authors:  Arian Mansur; Fang Zhang; Christine Y Lu
Journal:  J Pers Med       Date:  2022-07-15
  7 in total

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