Literature DB >> 9298827

Hereditary nonpolyposis colorectal cancer (HNPCC): eight novel germline mutations in hMSH2 or hMLH1 genes.

M Wehner1, L Buschhausen, C Lamberti, R Kruse, R Caspari, P Propping, W Friedl.   

Abstract

Entities:  

Mesh：

Substances：

Year:  1997        PMID： 9298827     DOI： 10.1002/(SICI)1098-1004(1997)10:3<241::AID-HUMU12>3.0.CO;2-#

Source DB:  PubMed          Journal:  Hum Mutat        ISSN： 1059-7794            Impact factor:   4.878


× No keyword cloud information.
  10 in total

1.  Hereditary nonpolyposis colorectal cancer in 95 families: differences and similarities between mutation-positive and mutation-negative kindreds.

Authors:  R J Scott; M McPhillips; C J Meldrum; P E Fitzgerald; K Adams; A D Spigelman; D du Sart; K Tucker; J Kirk
Journal:  Am J Hum Genet       Date:  2000-12-07       Impact factor: 11.025

2.  A 'nonsense' mutation leads to aberrant splicing of hMLH1 in a German hereditary non-polyposis colorectal cancer family.

Authors:  J Baehring; C Sutter; M Kadmon; M V Knebel Doeberitz; J Gebert
Journal:  Fam Cancer       Date:  2006       Impact factor: 2.375

3.  [Female patient with Muir-Torre syndrome].

Authors:  N Negraszus; K Jöhrens; E Bertelmann
Journal:  Ophthalmologe       Date:  2010-11       Impact factor: 1.059

4.  Mutator phenotypes conferred by MLH1 overexpression and by heterozygosity for mlh1 mutations.

Authors:  P V Shcherbakova; T A Kunkel
Journal:  Mol Cell Biol       Date:  1999-04       Impact factor: 4.272

5.  Microsatellite instability-a useful diagnostic tool to select patients at high risk for hereditary non-polyposis colorectal cancer: a study in different groups of patients with colorectal cancer.

Authors:  C Lamberti; R Kruse; C Ruelfs; R Caspari; Y Wang; M Jungck; M Mathiak; H R Malayeri; W Friedl; T Sauerbruch; P Propping
Journal:  Gut       Date:  1999-06       Impact factor: 23.059

6.  Is MSH2 a breast cancer susceptibility gene?

Authors:  Ee Ming Wong; Andrea A Tesoriero; Gulietta M Pupo; Margaret R E McCredie; Graham G Giles; John L Hopper; Graham J Mann; David E Goldgar; Melissa C Southey
Journal:  Fam Cancer       Date:  2007-10-06       Impact factor: 2.375

7.  Classifying MLH1 and MSH2 variants using bioinformatic prediction, splicing assays, segregation, and tumor characteristics.

Authors:  Sven Arnold; Daniel D Buchanan; Melissa Barker; Lesley Jaskowski; Michael D Walsh; Genevieve Birney; Michael O Woods; John L Hopper; Mark A Jenkins; Melissa A Brown; Sean V Tavtigian; David E Goldgar; Joanne P Young; Amanda B Spurdle
Journal:  Hum Mutat       Date:  2009-05       Impact factor: 4.878

8.  Muir-Torre phenotype has a frequency of DNA mismatch-repair-gene mutations similar to that in hereditary nonpolyposis colorectal cancer families defined by the Amsterdam criteria.

Authors:  R Kruse; A Rütten; C Lamberti; H R Hosseiny-Malayeri; Y Wang; C Ruelfs; M Jungck; M Mathiak; T Ruzicka; W Hartschuh; M Bisceglia; W Friedl; P Propping
Journal:  Am J Hum Genet       Date:  1998-07       Impact factor: 11.025

9.  hMSH2 is the most commonly mutated MMR gene in a cohort of Greek HNPCC patients.

Authors:  A Apessos; M Mihalatos; I Danielidis; G Kallimanis; N J Agnantis; J K Triantafillidis; G Fountzilas; P A Kosmidis; E Razis; V A Georgoulias; G Nasioulas
Journal:  Br J Cancer       Date:  2005-01-31       Impact factor: 7.640

10.  Prevalence of pathological germline mutations of hMLH1 and hMSH2 genes in colorectal cancer.

Authors:  Dandan Li; Fulan Hu; Fan Wang; Binbin Cui; Xinshu Dong; Wencui Zhang; Chunqing Lin; Xia Li; Da Wang; Yashuang Zhao
Journal:  PLoS One       Date:  2013-03-19       Impact factor: 3.240
  10 in total

北京卡尤迪生物科技股份有限公司 © 2022-2023.