Varaico: Literature-Extracted Genetic Variants

Gene:APC
Variant:p.D170_S171delFs
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APC

NM_000038.6:p.D170_S171delFs

Associated Papers

Large-scale application of ClinGen-InSiGHT APC-specific ACMG/AMP variant classification criteria leads to substantial reduction in VUS.

Yin X et al.

American Journal of Human Genetics, 2024

39357517 (PubMed )
Supplement: mmc2.xlsx › e_Cli-data

Characterization of somatic mutations of colorectal tumor in a patient with concurrent APC and MLH1 germline mutations.

Cheng Y et al.

Genes & Diseases, 2023

The landscape of somatic mutation in sporadic Chinese colorectal cancer.

Liu Z et al.

Oncotarget, 2018

29937994 (PubMed )
Supplement: oncotarget-09-27412-s005.xlsx › Supplementary_Table_4

Molecular characterization of circulating colorectal tumor cells defines genetic signatures for individualized cancer care.

Kong SL et al.

Oncotarget, 2017

28978093 (PubMed )
Supplement: oncotarget-08-68026-s002.xlsx › Table_S5

Novel mutations of the APC gene and genetic consequences of splicing mutations in the Czech FAP families.

Schwarzová L et al.

Familial Cancer, 2013

A survey of APC mutations in Quebec.

Jarry J et al.

Familial Cancer, 2011

APC or MUTYH mutations account for the majority of clinically well-characterized families with FAP and AFAP phenotype and patients with more than 30 adenomas.

Filipe B et al.

Clinical Genetics, 2009

Familial adenomatous polyposis: experience from a study of 1164 unrelated german polyposis patients.

Friedl W et al.

Hereditary Cancer in Clinical Practice, 2005

Mutation analysis of the adenomatous polyposis coli (APC) gene in Danish patients with familial adenomatous polyposis (FAP).

Bisgaard ML et al.

Human Mutation, 2004

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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."