Literature DB >> 20420945

Hereditary and familial colon cancer.

Kory W Jasperson1, Thérèse M Tuohy, Deborah W Neklason, Randall W Burt.   

Abstract

Between 2% to 5% of all colon cancers arise in the setting of well-defined inherited syndromes, including Lynch syndrome, familial adenomatous polyposis, MUTYH-associated polyposis, and certain hamartomatous polyposis conditions. Each is associated with a high risk of colon cancer. In addition to the syndromes, up to one-third of colon cancers exhibit increased familial risk, likely related to inheritance. A number of less penetrant, but possibly more frequent susceptibility genes have been identified for this level of inheritance. Clarification of predisposing genes allows for accurate risk assessment and more precise screening approaches. This review examines the colon cancer syndromes, their genetics and management, and also the common familial colon cancers with current genetic advances and screening guidelines.

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Year:  2010        PMID: 20420945      PMCID: PMC3057468          DOI: 10.1053/j.gastro.2010.01.054

Source DB:  PubMed          Journal:  Gastroenterology        ISSN: 0016-5085            Impact factor:   22.682


  100 in total

1.  A genome-wide scan of 10 000 gene-centric variants and colorectal cancer risk.

Authors:  Emily Webb; Peter Broderick; Steven Lubbe; Ian Chandler; Ian Tomlinson; Richard S Houlston
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2.  Surveillance colonoscopy improves survival in a cohort of subjects with a single mismatch repair gene mutation.

Authors:  D A Stupart; P A Goldberg; U Algar; R Ramesar
Journal:  Colorectal Dis       Date:  2009-02       Impact factor: 3.788

Review 3.  Correlations between mutation site in APC and phenotype of familial adenomatous polyposis (FAP): a review of the literature.

Authors:  M H Nieuwenhuis; H F A Vasen
Journal:  Crit Rev Oncol Hematol       Date:  2006-10-24       Impact factor: 6.312

4.  Deletions removing the last exon of TACSTD1 constitute a distinct class of mutations predisposing to Lynch syndrome.

Authors:  Marietta E Kovacs; Janos Papp; Zoltan Szentirmay; Szabolcs Otto; Edith Olah
Journal:  Hum Mutat       Date:  2009-02       Impact factor: 4.878

5.  Lower incidence of colorectal cancer and later age of disease onset in 27 families with pathogenic MSH6 germline mutations compared with families with MLH1 or MSH2 mutations: the German Hereditary Nonpolyposis Colorectal Cancer Consortium.

Authors:  Jens Plaschke; Christoph Engel; Stefan Krüger; Elke Holinski-Feder; Constanze Pagenstecher; Elisabeth Mangold; Gabriela Moeslein; Karsten Schulmann; Johannes Gebert; Magnus von Knebel Doeberitz; Josef Rüschoff; Markus Loeffler; Hans K Schackert
Journal:  J Clin Oncol       Date:  2004-10-13       Impact factor: 44.544

6.  Extensive DNA methylation in normal colorectal mucosa in hyperplastic polyposis.

Authors:  P Minoo; K Baker; R Goswami; G Chong; W D Foulkes; A R Ruszkiewicz; M Barker; D Buchanan; J Young; J R Jass
Journal:  Gut       Date:  2006-02-09       Impact factor: 23.059

Review 7.  Cowden syndrome: a critical review of the clinical literature.

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

8.  Genetic testing and phenotype in a large kindred with attenuated familial adenomatous polyposis.

Authors:  Randall W Burt; Mark F Leppert; Martha L Slattery; Wade S Samowitz; Lisa N Spirio; Richard A Kerber; Scott K Kuwada; Deborah W Neklason; James A Disario; Elaine Lyon; J Preston Hughes; William Y Chey; Raymond L White
Journal:  Gastroenterology       Date:  2004-08       Impact factor: 22.682

9.  Defining the criteria for local resection of ampullary neoplasms.

Authors:  D W Rattner; C Fernandez-del Castillo; W R Brugge; A L Warshaw
Journal:  Arch Surg       Date:  1996-04

10.  Somatic APC mosaicism: an underestimated cause of polyposis coli.

Authors:  F J Hes; M Nielsen; E C Bik; D Konvalinka; J T Wijnen; E Bakker; H F A Vasen; M H Breuning; C M J Tops
Journal:  Gut       Date:  2007-06-29       Impact factor: 23.059

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  386 in total

1.  Cancer Risk in Families Fulfilling the Amsterdam Criteria for Lynch Syndrome.

Authors:  N Jewel Samadder; Ken Robert Smith; Jathine Wong; Alun Thomas; Heidi Hanson; Kenneth Boucher; Cathryn Kopituch; Lisa A Cannon-Albright; Randall W Burt; Karen Curtin
Journal:  JAMA Oncol       Date:  2017-12-01       Impact factor: 31.777

2.  Testing for the recurrent HOXB13 G84E germline mutation in men with clinical indications for prostate biopsy.

Authors:  Florian R Schroeck; Kimberly A Zuhlke; Javed Siddiqui; Rabia Siddiqui; Kathleen A Cooney; John T Wei
Journal:  J Urol       Date:  2012-10-02       Impact factor: 7.450

Review 3.  New genes emerging for colorectal cancer predisposition.

Authors:  Clara Esteban-Jurado; Pilar Garre; Maria Vila; Juan José Lozano; Anna Pristoupilova; Sergi Beltrán; Anna Abulí; Jenifer Muñoz; Francesc Balaguer; Teresa Ocaña; Antoni Castells; Josep M Piqué; Angel Carracedo; Clara Ruiz-Ponte; Xavier Bessa; Montserrat Andreu; Luis Bujanda; Trinidad Caldés; Sergi Castellví-Bel
Journal:  World J Gastroenterol       Date:  2014-02-28       Impact factor: 5.742

Review 4.  Hereditary diffuse gastric cancer: What the clinician should know.

Authors:  Ryan Ying Cong Tan; Joanne Ngeow
Journal:  World J Gastrointest Oncol       Date:  2015-09-15

Review 5.  Immune checkpoint inhibitors in gastrointestinal malignancies.

Authors:  Vishal Jindal
Journal:  J Gastrointest Oncol       Date:  2018-04

Review 6.  Colon carcinoma in childhood: review of the literature with four case reports.

Authors:  Gangmi Kim; Seung Hyuk Baik; Kang Young Lee; Hyuk Hur; Byung Soh Min; Chuhl Joo Lyu; Nam Kyu Kim
Journal:  Int J Colorectal Dis       Date:  2012-10-26       Impact factor: 2.571

7.  Interest and informational preferences regarding genomic testing for modest increases in colorectal cancer risk.

Authors:  A E Anderson; K G Flores; W Boonyasiriwat; A Gammon; W Kohlmann; W C Birmingham; M D Schwartz; J Samadder; K Boucher; A Y Kinney
Journal:  Public Health Genomics       Date:  2014-01-14       Impact factor: 2.000

Review 8.  Genomic era diagnosis and management of hereditary and sporadic colon cancer.

Authors:  Edward David Esplin; Michael Paul Snyder
Journal:  World J Clin Oncol       Date:  2014-12-10

Review 9.  Computed tomography colonography in 2014: an update on technique and indications.

Authors:  Andrea Laghi
Journal:  World J Gastroenterol       Date:  2014-12-07       Impact factor: 5.742

Review 10.  Clinical significance of microsatellite instability in colorectal cancer.

Authors:  Matthias Kloor; Laura Staffa; Aysel Ahadova; Magnus von Knebel Doeberitz
Journal:  Langenbecks Arch Surg       Date:  2013-09-19       Impact factor: 3.445

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