Varaico: Literature-Extracted Genetic Variants

Gene:APC
Variant:p.Q1045*
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APC

NM_000038.6:p.Q1045*

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

β-catenin mediates growth defects induced by centrosome loss in a subset of APC mutant colorectal cancer independently of p53.

Bourmoum M et al.

Plos One, 2024

Intergenic Breakpoints Identified by DNA Sequencing Confound Targetable Kinase Fusion Detection in NSCLC.

Li W et al.

Journal of Thoracic Oncology : Official Publication of the International Association for the Study of Lung Cancer, 2020

Common Secondary Genomic Variants Associated With Advanced Epithelioid Hemangioendothelioma.

Seligson ND et al.

Jama Network Open, 2019

31577358 (PubMed )
Supplement: jamanetwopen-2-e1912416-s001.pdf

Targeted exome sequencing reveals distinct pathogenic variants in Iranians with colorectal cancer.

Ashktorab H et al.

Oncotarget, 2017

28002797 (PubMed )
Supplement: oncotarget-08-7852-s002.xlsx › APC.Ion

Rapid detection of germline mutations for hereditary gastrointestinal polyposis/cancers using HaloPlex target enrichment and high-throughput sequencing technologies.

Kohda M et al.

Familial Cancer, 2016

Differences in neuropsychological and behavioral parameters and brain structure in patients with familial adenomatous polyposis: a sibling-paired study.

Azofra AS et al.

Hereditary Cancer in Clinical Practice, 2016

Achieving high-sensitivity for clinical applications using augmented exome sequencing.

Patwardhan A et al.

Genome Medicine, 2015

26269718 (PubMed )
Supplement: 13073_2015_197_MOESM8_ESM.xlsx › Sheet1

The genomic landscapes of human breast and colorectal cancers.

Wood LD et al.

Science (new York, N.y.), 2007

17932254 (PubMed )
Supplement: 1145720s_tables.zip › 1145720tableS3.xls › Both

The consensus coding sequences of human breast and colorectal cancers.

Sjöblom T et al.

Science (new York, N.y.), 2006

16959974 (PubMed )
Supplement: 1133427_som_tables.zip › Table_S4_-__Somatic_mutations_identified_in_breast_and_colorectal_cancers_8-29-06.xls › Sheet1

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

Friedl W et al.

Hereditary Cancer in Clinical Practice, 2005

A comparison of the phenotype and genotype in adenomatous polyposis patients with and without a family history.

Truta B et al.

Familial Cancer, 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

Novel mutations of the APC gene in familial adenomatous polyposis in Greek patients.

Mihalatos M et al.

Cancer Genetics and Cytogenetics, 2003

Evaluation of dHPLC in mutation screening of the APC gene in a Greek FAP cohort.

Mihalatos M et al.

Anticancer Research, 0

Genetic alterations of the APC gene in familial adenomatous polyposis patients of the hellenic group for the study of colorectal cancer.

Mihalatos M et al.

Anticancer Research, 0

Inherited cancer predisposition syndromes in Greece.

Apessos A et al.

Anticancer Research, 0

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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."