Literature DB >> 11104559

Population carrier frequency of hMSH2 and hMLH1 mutations.

M G Dunlop1, S M Farrington, I Nicholl, L Aaltonen, G Petersen, M Porteous, A Carothers.   

Abstract

Knowledge of population carrier frequency for DNA mismatch repair (MMR) gene mutations would contribute to understanding the burden of cancer due to genetic susceptibility, but robust prevalence estimates are lacking. To estimate carrier frequency, we genotyped a cohort of relatives of mutation carriers and determined their colorectal cancer prevalence. Systematic Finnish and US data were combined with Scottish genotype and cancer prevalence data in a Bayesian calculation. The estimated carrier prevalence in the population aged 15-74 years is 1:3139 (95% Cl = 1:1247-1:7626) and these carriers are at high risk of colorectal and other cancers. Copyright 2000 Cancer Research Campaign.

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Year:  2000        PMID： 11104559      PMCID： PMC2363440          DOI： 10.1054/bjoc.2000.1520

Source DB:  PubMed          Journal:  Br J Cancer        ISSN： 0007-0920            Impact factor:   7.640


  22 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.  Body mass index in early adulthood and endometrial cancer risk for mismatch repair gene mutation carriers.

Authors:  Aung Ko Win; James G Dowty; Yoland C Antill; Dallas R English; John A Baron; Joanne P Young; Graham G Giles; Melissa C Southey; Ingrid Winship; Lara Lipton; Susan Parry; Stephen N Thibodeau; Robert W Haile; Steven Gallinger; Loïc Le Marchand; Noralane M Lindor; Polly A Newcomb; John L Hopper; Mark A Jenkins
Journal:  Obstet Gynecol       Date:  2011-04       Impact factor: 7.661

3.  Cascade genetic testing for mismatch repair gene mutations.

Authors:  R J Mitchell; R K Ferguson; A Macdonald; M G Dunlop; H Campbell; M E Porteous
Journal:  Fam Cancer       Date:  2008-04-04       Impact factor: 2.375

4.  Does risk of endometrial cancer for women without a germline mutation in a DNA mismatch repair gene depend on family history of endometrial cancer or colorectal cancer?

Authors:  Rajani Bharati; Mark A Jenkins; Noralane M Lindor; Loïc Le Marchand; Steven Gallinger; Robert W Haile; Polly A Newcomb; John L Hopper; Aung Ko Win
Journal:  Gynecol Oncol       Date:  2014-03-11       Impact factor: 5.482

5.  Aspirin, Ibuprofen, and the Risk of Colorectal Cancer in Lynch Syndrome.

Authors:  Driss Ait Ouakrim; Seyedeh Ghazaleh Dashti; Rowena Chau; Daniel D Buchanan; Mark Clendenning; Christophe Rosty; Ingrid M Winship; Joanne P Young; Graham G Giles; Barbara Leggett; Finlay A Macrae; Dennis J Ahnen; Graham Casey; Steven Gallinger; Robert W Haile; Loïc Le Marchand; Stephen N Thibodeau; Noralane M Lindor; Polly A Newcomb; John D Potter; John A Baron; John L Hopper; Mark A Jenkins; Aung Ko Win
Journal:  J Natl Cancer Inst       Date:  2015-06-24       Impact factor: 13.506

6.  Metachronous colorectal cancer risk for mismatch repair gene mutation carriers: the advantage of more extensive colon surgery.

Authors:  Susan Parry; Aung Ko Win; Bryan Parry; Finlay A Macrae; Lyle C Gurrin; James M Church; John A Baron; Graham G Giles; Barbara A Leggett; Ingrid Winship; Lara Lipton; Graeme P Young; Joanne P Young; Caroline J Lodge; Melissa C Southey; Polly A Newcomb; Loïc Le Marchand; Robert W Haile; Noralane M Lindor; Steven Gallinger; John L Hopper; Mark A Jenkins
Journal:  Gut       Date:  2010-12-30       Impact factor: 23.059

7.  Two cases of successful pregnancies after hysteroscopic removal of endometrioid adenocarcinoma grade I, stage IA, in young women with Lynch syndrome.

Authors:  Ingrid Marton; Hrvojka Soljacic Vranes; Vladimir Sparac; Igor Maricic; Krunoslav Kuna; Miroslav Kopjar
Journal:  J Turk Ger Gynecol Assoc       Date:  2014-01-06

8.  Unstable DNA repair genes shaped by their own sequence modifying phenotypes.

Authors:  Daniel S Falster; Sigve Nakken; Marie Bergem-Ohr; Einar Andreas Rødland; Jarle Breivik
Journal:  J Mol Evol       Date:  2010-03-06       Impact factor: 2.395

9.  Multivitamin, calcium and folic acid supplements and the risk of colorectal cancer in Lynch syndrome.

Authors:  Rowena Chau; Seyedeh Ghazaleh Dashti; Driss Ait Ouakrim; Daniel D Buchanan; Mark Clendenning; Christophe Rosty; Ingrid M Winship; Joanne P Young; Graham G Giles; Finlay A Macrae; Alex Boussioutas; Susan Parry; Jane C Figueiredo; A Joan Levine; Dennis J Ahnen; Graham Casey; Robert W Haile; Steven Gallinger; Loïc Le Marchand; Stephen N Thibodeau; Noralane M Lindor; Polly A Newcomb; John D Potter; John A Baron; John L Hopper; Mark A Jenkins; Aung Ko Win
Journal:  Int J Epidemiol       Date:  2016-04-10       Impact factor: 7.196

10.  Penetrance of colorectal cancer among MLH1/MSH2 carriers participating in the colorectal cancer familial registry in Ontario.

Authors:  Yun-Hee Choi; Michelle Cotterchio; Gail McKeown-Eyssen; Monga Neerav; Bharati Bapat; Kevin Boyd; Steven Gallinger; John McLaughlin; Melyssa Aronson; Laurent Briollais
Journal:  Hered Cancer Clin Pract       Date:  2009-08-23       Impact factor: 2.857
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