Varaico: Literature-Extracted Genetic Variants

Gene:APC
Variant:p.R382K
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APC

NM_000038.6:p.R382K

Associated Papers

Burden and Profile of Somatic Mutation in Duodenal Adenomas from Patients with Familial Adenomatous- and MUTYH-associated Polyposis.

Thomas LE et al.

Clinical Cancer Research : an Official Journal of the American Association for Cancer Research, 2017

28790112 (PubMed )
Supplement: 10780432ccr171269-sup-182767_2_supp_4154851_bsz4zb.xlsx › Data

Use of panel tests in place of single gene tests in the cancer genetics clinic.

Yorczyk A et al.

Clinical Genetics, 2015

Detection of genetic alterations in hereditary colorectal cancer screening.

Pineda M et al.

Mutation Research, 2010

The genetic basis of colorectal cancer in a population-based incident cohort with a high rate of familial disease.

Woods MO et al.

Gut, 2010

Identification of patients with (atypical) MUTYH-associated polyposis by KRAS2 c.34G > T prescreening followed by MUTYH hotspot analysis in formalin-fixed paraffin-embedded tissue.

van Puijenbroek M et al.

Clinical Cancer Research : an Official Journal of the American Association for Cancer Research, 2008

Mutation analysis of the MYH gene in unrelated Czech APC mutation-negative polyposis patients.

Sulová M et al.

European Journal of Cancer (oxford, England : 1990), 2007

The thorough screening of the MUTYH gene in a large French cohort of sporadic colorectal cancers.

Küry S et al.

Genetic Testing, 2007

Similar colorectal cancer risk in patients with monoallelic and biallelic mutations in the MYH gene identified in a population with adenomatous polyposis.

Olschwang S et al.

Genetic Testing, 2007

Somatic mutation of MutYH in Tunisian patients with sporadic colorectal cancer.

Bougatef K et al.

Journal of Clinical Laboratory Analysis, 2007

Increased frequency of disease-causing MYH mutations in colon cancer families.

Peterlongo P et al.

Carcinogenesis, 2006

MYH Gene Status in Polish FAP Patients without APC Gene Mutations.

Skrzypczak M et al.

Hereditary Cancer in Clinical Practice, 2006

A novel functionally deficient MYH variant in individuals with colorectal adenomatous polyposis.

Alhopuro P et al.

Human Mutation, 2005

Mutations of APC and MYH in unrelated Italian patients with adenomatous polyposis coli.

Aceto G et al.

Human Mutation, 2005

High frequency of MYH gene mutations in a subset of patients with familial adenomatous polyposis.

Venesio T et al.

Gastroenterology, 2004

Biallelic germline mutations in MYH predispose to multiple colorectal adenoma and somatic G:C-->T:A mutations.

Jones S et al.

Human Molecular Genetics, 2002

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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."