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Literature DB >> 21075290

Lower gastrointestinal tract cancer predisposition syndromes.

Abstract

Although inherited predisposition to colorectal cancer (CRC) has been suspected for more than 100 years, definitive proof of Mendelian syndromes had to await maturation of molecular genetic technologies. Since the l980s, the genetics of several clinically distinct entities has been revealed. Five disorders that share a hereditary predisposition to CRC are reviewed in this article.

Entities: Chemical Disease Gene Mutation Species

Mesh：

Year: 2010 PMID： 21075290 PMCID： PMC4103645 DOI： 10.1016/j.hoc.2010.08.012

Source DB: PubMed Journal: Hematol Oncol Clin North Am ISSN： 0889-8588 Impact factor: 3.722

174 in total

Review 1. 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

2. Significance of endometrial cells in the detection of endometrial carcinoma and its precursors.

Authors: A B Ng; J W Reagan; S Hawliczek; B W Wentz
Journal: Acta Cytol Date: 1974 Sep-Oct Impact factor: 2.319

3. The frequency of hereditary defective mismatch repair in a prospective series of unselected colorectal carcinomas.

Authors: J M Cunningham; C Y Kim; E R Christensen; D J Tester; Y Parc; L J Burgart; K C Halling; S K McDonnell; D J Schaid; C Walsh Vockley; V Kubly; H Nelson; V V Michels; S N Thibodeau
Journal: Am J Hum Genet Date: 2001-08-24 Impact factor: 11.025

Review 4. Familial adenomatous polyposis.

Authors: Polymnia Galiatsatos; William D Foulkes
Journal: Am J Gastroenterol Date: 2006-02 Impact factor: 10.864

5. Mortality in patients with familial adenomatous polyposis.

Authors: M L Arvanitis; D G Jagelman; V W Fazio; I C Lavery; E McGannon
Journal: Dis Colon Rectum Date: 1990-08 Impact factor: 4.585

6. 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

7. MSH2 in contrast to MLH1 and MSH6 is frequently inactivated by exonic and promoter rearrangements in hereditary nonpolyposis colorectal cancer.

Authors: Françoise Charbonnier; Sylviane Olschwang; Qing Wang; Cécile Boisson; Cosette Martin; Marie-Pierre Buisine; Alain Puisieux; Thierry Frebourg
Journal: Cancer Res Date: 2002-02-01 Impact factor: 12.701

8. Increased colorectal cancer incidence in obligate carriers of heterozygous mutations in MUTYH.

Authors: Natalie Jones; Stefanie Vogt; Maartje Nielsen; Daria Christian; Petra A Wark; Diana Eccles; Emma Edwards; D Gareth Evans; Eamonn R Maher; Hans F Vasen; Frederik J Hes; Stefan Aretz; Julian R Sampson
Journal: Gastroenterology Date: 2009-04-23 Impact factor: 22.682

Lower gastrointestinal tract cancer predisposition syndromes.

Review 1. Correlations between mutation site in APC and phenotype of familial adenomatous polyposis (FAP): a review of the literature.

2. Significance of endometrial cells in the detection of endometrial carcinoma and its precursors.

3. The frequency of hereditary defective mismatch repair in a prospective series of unselected colorectal carcinomas.

Review 4. Familial adenomatous polyposis.

5. Mortality in patients with familial adenomatous polyposis.

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

7. MSH2 in contrast to MLH1 and MSH6 is frequently inactivated by exonic and promoter rearrangements in hereditary nonpolyposis colorectal cancer.

8. Increased colorectal cancer incidence in obligate carriers of heterozygous mutations in MUTYH.

9. Formation of 8-hydroxy-2'-deoxyguanosine and 4-hydroxy-2-nonenal-modified proteins in human renal-cell carcinoma.

10. Germline susceptibility to colorectal cancer due to base-excision repair gene defects.

1. Identification of patients at risk for hereditary colorectal cancer.

Review 2. Microsatellite instability in colorectal cancer.