About: Biallelic germline mutations of mismatch-repair genes: a possible cause for multiple pediatric malignancies

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description	article (en) ലേഖനം (ml) wetenschappelijk artikel (nl) наукова стаття, опублікована в червні 2007 (uk) im Juni 2007 veröffentlichter wissenschaftlicher Artikel (de)
publication date	wds:Q55670368-F228D368-7000-44E4-9A14-E95F913EFD27
publication date	2007-06-01 00:00:00Z (xsd:dateTime)
language of work or name	wds:Q55670368-CD1DF635-DC5B-4E29-8DE8-13B653A0B172
language of work or name	English
cites work	wds:Q55670368-0547F267-61CD-4F7F-8E43-0E9F60A60F47 wds:Q55670368-0EA7D7DB-5734-4B95-86B9-2B492C1637B7 wds:Q55670368-13CDF169-2D82-4A01-BC99-09B23951A4A6 wds:Q55670368-1640739B-7C21-4772-BAE4-8015EC8D4EE0 wds:Q55670368-2920C271-3F8F-467E-ADE7-A7DAD91C2294 wds:Q55670368-2E50A5EF-CB6A-428E-A178-E6C09BA1FB7B wds:Q55670368-337CF685-108E-407B-B838-89C050F72C1F wds:Q55670368-3D500DFA-B1A1-44B7-8131-AE01F9B14384 wds:Q55670368-3EA4BA0B-3E71-4A2F-A96A-D02DB838C39A wds:Q55670368-4128A6B3-E434-4DA3-84A4-A2894F231DFC wds:Q55670368-49FE4D20-1291-4D1B-AFBC-E71377597314 wds:Q55670368-5315FF6A-1CC9-4DCE-AF96-1E6A69B01E72 wds:Q55670368-642ED916-CA1D-43B8-B0A9-059A4644E0DE wds:Q55670368-698AE9D4-9FBF-4677-9601-8FEF427BB4D0 wds:Q55670368-6CA82723-7D80-4EB0-8F82-1BD400FAA6EF wds:Q55670368-78202171-443F-4C7E-874A-CA0792A0B22E wds:Q55670368-7926A646-5E7B-4366-9B90-1AE673DCF9B5 wds:Q55670368-85B86E5A-D290-457B-AAF9-A6DB53A19A1C wds:Q55670368-87673719-68C5-4C7D-BA43-1989795AA1E8 wds:Q55670368-8C135407-78D9-4EE1-9D82-68232504262F wds:Q55670368-A0EF1CC5-A19C-4DEA-A0A3-842740C7BB40 wds:Q55670368-B54E6F74-95EA-4A1F-9198-72CD642B8DE2 wds:Q55670368-B7060152-FCC1-4A1C-BC0C-8E14FAF310E9 wds:Q55670368-BB1179A4-5BA1-4B75-9A07-779FBFBE619E wds:Q55670368-F1AF2EE9-9A0F-4770-AD29-09DCC30A8561
cites work	Mismatch repair and DNA damage signalling Genetics, natural history, tumor spectrum, and pathology of hereditary nonpolyposis colorectal cancer: an updated review Mutation in the DNA mismatch repair gene homologue hMLH1 is associated with hereditary non-polyposis colon cancer. Mutator phenotypes conferred by MLH1 overexpression and by heterozygosity for mlh1 mutations. Founding mutations and Alu-mediated recombination in hereditary colon cancer Life-time risk of different cancers in hereditary non-polyposis colorectal cancer (HNPCC) syndrome. Tumor spectrum in cancer family syndrome (hereditary nonpolyposis colorectal cancer) Incidence of Hereditary Nonpolyposis Colorectal Cancer and the Feasibility of Molecular Screening for the Disease Compound heterozygosity for two MSH6 mutations in a patient with early onset of HNPCC-associated cancers, but without hematological malignancy and brain tumor. Cancer risk in families with hereditary nonpolyposis colorectal cancer diagnosed by mutation analysis. Cancer risk in hereditary nonpolyposis colorectal cancer due to MSH6 mutations: impact on counseling and surveillance. The colon cancer burden of genetically defined hereditary nonpolyposis colon cancer Microsatellite instability, immunohistochemistry, and additional PMS2 staining in suspected hereditary nonpolyposis colorectal cancer. Microsatellite instability and mutation of DNA mismatch repair genes in gliomas. Microsatellite instability and the PTEN1 gene mutation in a subset of early onset gliomas carrying germline mutation or promoter methylation of the hMLH1 gene. Frequency of hereditary colorectal carcinoma Prediction of a mismatch repair gene defect by microsatellite instability and immunohistochemical analysis in endometrial tumours from HNPCC patients Syndrome of early onset colon cancers, hematologic malignancies & features of neurofibromatosis in HNPCC families with homozygous mismatch repair gene mutations Gastrointestinal cancers and neurofibromatosis type 1 features in children with a germline homozygous MLH1 mutation Functional analysis of human MLH1 mutations in Saccharomyces cerevisiae. HNPCC mutation MLH1 P648S makes the functional protein unstable, and homozygosity predisposes to mild neurofibromatosis type 1. Early onset brain tumor and lymphoma in MSH2-deficient children The role of mismatch repair gene defects in the development of adenomas in patients with HNPCC A homozygous MSH6 mutation in a child with café-au-lait spots, oligodendroglioma and rectal cancer A novelMSH2 germline mutation in homozygous state in two brothers with colorectal cancers diagnosed at the age of 11 and 12 years
author name string	wds:Q55670368-15F69050-FACC-4381-9E0E-1CF8303E5E83 wds:Q55670368-17D56750-8AB3-4F03-9C83-BC040490BC3C wds:Q55670368-32AED4A6-30A3-44FE-B866-715B1FF887E8 wds:Q55670368-35AFD92F-F66C-4F62-BE07-5258249A62F8 wds:Q55670368-5EF83C0D-FC83-4B5B-BCE3-34A887257EA3 wds:Q55670368-6E70919C-E739-43B0-B552-AB525E399AE1 wds:Q55670368-B3EEDC20-8D65-4EE9-89CC-03139218D2D6 wds:Q55670368-F4FB50E2-312F-49A2-8DD6-4A4B5F95E28F
author name string	Johan M Kros Winand N M Dinjens Anja Wagner Jan-Werner Poley Roel E Reddingius Fred H Menko Carli Tops Monique M C P Hoogmans
rdfs:label	Biallelic germline mutations of mismatch-repair genes: a possible cause for multiple pediatric malignancies (en) Biallelic germline mutations of mismatch-repair genes: a possible cause for multiple pediatric malignancies (nl)
skos:prefLabel	Biallelic germline mutations of mismatch-repair genes: a possible cause for multiple pediatric malignancies (en) Biallelic germline mutations of mismatch-repair genes: a possible cause for multiple pediatric malignancies (nl)
name	Biallelic germline mutations of mismatch-repair genes: a possible cause for multiple pediatric malignancies (en) Biallelic germline mutations of mismatch-repair genes: a possible cause for multiple pediatric malignancies (nl)
author	wds:Q55670368-256C9295-FFA7-4BD6-A979-775F9DA5F001 wds:Q55670368-508921C6-3D2F-488C-B17A-38E8AACC19B4
author	Ernst Kuipers Hanne Meijers-Heijboer
title	wds:Q55670368-3A47E794-1806-459C-9467-FBF857905E8F
title	Biallelic germline mutations of mismatch-repair genes: a possible cause for multiple pediatric malignancies (en)
page(s)	wds:Q55670368-B0DD1FA3-E20F-4BCB-8C5B-CD9983DD3601
page(s)	2349-56
instance of	wds:Q55670368-E1360CA9-3F8C-4CAD-BB35-51B580987926
instance of	scholarly article
main subject	wds:Q55670368-44727659-DC9C-4789-B918-539C05480067
main subject	DNA mismatch repair
PubMed ID	wds:Q55670368-E20458D7-E2F7-4A7B-AA1B-3FCF7FAD3BD3
PubMed ID	http://rdf.ncbi.nlm.nih.gov/pubchem/reference/17440981
PubMed ID	17440981
published in	wds:Q55670368-151D3E47-FE3E-4B33-BD3B-7576B30C56F1
published in	Cancer
issue	wds:Q55670368-37AAFF79-BA4B-401B-90F9-98FEECC4E010

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