Search Results - "van der Klift, HM"
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Cancer Risks for PMS2-Associated Lynch Syndrome
Published in Journal of clinical oncology (10-10-2018)“…Lynch syndrome due to pathogenic variants in the DNA mismatch repair genes MLH1, MSH2, and MSH6 is predominantly associated with colorectal and endometrial…”
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Lynch syndrome caused by germline PMS2 mutations: delineating the cancer risk
Published in Journal of clinical oncology (01-02-2015)“…The clinical consequences of PMS2 germline mutations are poorly understood compared with other Lynch-associated mismatch repair gene (MMR) mutations. The aim…”
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The effect of genotypes and parent of origin on cancer risk and age of cancer development in PMS2 mutation carriers
Published in Genetics in medicine (01-04-2016)“…Lynch syndrome (LS), a heritable disorder with an increased risk of primarily colorectal cancer (CRC) and endometrial cancer (EC), can be caused by mutations…”
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Childhood brain tumours due to germline bi-allelic mismatch repair gene mutations
Published in Clinical genetics (01-09-2011)“…Johannesma PC, van der Klift HM, van Grieken NCT, Troost D, te Riele H, Jacobs MAJM, Postma TJ, Heideman DAM, Tops CMJ, Wijnen JT, Menko FH. Childhood brain…”
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Heterozygous Mutations in PMS2 Cause Hereditary Nonpolyposis Colorectal Carcinoma (Lynch Syndrome)
Published in Gastroenterology (New York, N.Y. 1943) (01-02-2006)“…Background #x0026; Aims: The role of the mismatch repair gene PMS2 in hereditary nonpolyposis colorectal carcinoma (HNPCC) is not fully clarified. To date,…”
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A new deletion polymorphism at D5S71 raises the linkage information on adenomatous polyposis coli : implications for presymptomatic diagnosis
Published in Human genetics (01-02-1991)“…Two independent study-groups, one in Britain and the other in the United States, were the first to report linkage between APC and a TaqI restriction fragment…”
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