Search Results - "Howarth, Kimberley M"
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Thyroid cancer susceptibility polymorphisms: confirmation of loci on chromosomes 9q22 and 14q13, validation of a recessive 8q24 locus and failure to replicate a locus on 5q24
Published in Journal of medical genetics (01-03-2012)“…Five single nucleotide polymorphisms (SNPs) associated with thyroid cancer (TC) risk have been reported: rs2910164 (5q24); rs6983267 (8q24); rs965513 and…”
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Myh deficiency enhances intestinal tumorigenesis in multiple intestinal neoplasia (ApcMin/+) mice
Published in Cancer research (Chicago, Ill.) (15-12-2004)“…Monoallelic APC and biallelic MYH (homolog of Escherichia coli mutY) germ-line mutations are independently associated with a strong predisposition to…”
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Refinement of the associations between risk of colorectal cancer and polymorphisms on chromosomes 1q41 and 12q13.13
Published in Human molecular genetics (15-02-2012)“…In genome-wide association studies (GWASs) of colorectal cancer, we have identified two genomic regions in which pairs of tagging-single nucleotide…”
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Homozygous PMS2 Deletion Causes a Severe Colorectal Cancer and Multiple Adenoma Phenotype Without Extraintestinal Cancer
Published in Gastroenterology (New York, N.Y. 1943) (01-02-2007)“…Background & Aims: We report a patient of Indian descent with parental consanguinity, who developed 10 carcinomas and 35 adenomatous polyps at age 23 and…”
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Germline mutations affecting the proofreading domains of POLE and POLD1 predispose to colorectal adenomas and carcinomas
Published in Nature genetics (01-06-2013)Get full text
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DNA polymerase ɛ and δ exonuclease domain mutations in endometrial cancer
Published in Human molecular genetics (15-07-2013)“…Accurate duplication of DNA prior to cell division is essential to suppress mutagenesis and tumour development. The high fidelity of eukaryotic DNA replication…”
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DNA polymerase epsilon and [delta] exonuclease domain mutations in endometrial cancer
Published in Human molecular genetics (15-07-2013)“…Accurate duplication of DNA prior to cell division is essential to suppress mutagenesis and tumour development. The high fidelity of eukaryotic DNA replication…”
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Erratum: Germline mutations affecting the proofreading domains of POLE and POLD1 predispose to colorectal adenomas and carcinomas
Published in Nature genetics (29-05-2013)“…Nat. Genet. 45, 136–144 (2013); published online 23 December 2012; corrected after print 8 May 2013 In the version of this article initially published, the…”
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Germline mutations in the proof-reading domains of POLE and POLD1 predispose to colorectal adenomas and carcinomas
Published in Nature genetics (23-12-2012)“…Many individuals with multiple or large colorectal adenomas, or early-onset colorectal cancer (CRC), have no detectable germline mutations in the known cancer…”
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DNA polymerase ε and δ exonuclease domain mutations in endometrial cancer
Published in Human molecular genetics (15-07-2013)“…Accurate duplication of DNA prior to cell division is essential to suppress mutagenesis and tumour development. The high fidelity of eukaryotic DNA replication…”
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