Varaico: Literature-Extracted Genetic Variants

Gene:APC
Variant:p.R141Splc
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APC

NM_000038.6:p.R141Splc

Associated Papers

[A case of familial adenomatous polyposis in an adult male with Lynch-like syndrome].

Zhang TQ et al.

Zhonghua Wei Chang Wai Ke Za Zhi = Chinese Journal of Gastrointestinal Surgery, 2024

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 › d_Exp-data

Adrenal tumours in patients with pathogenic APC mutations: a retrospective study.

Lin L et al.

Hereditary Cancer in Clinical Practice, 2024

Interplay between WNT/PI3K-mTOR axis and the microbiota in APC-driven colorectal carcinogenesis: data from a pilot study and possible implications for CRC prevention.

Di Paola FJ et al.

Journal of Translational Medicine, 2024

38970018 (PubMed )
Supplement: 12967_2024_5305_MOESM1_ESM.docx

Gene-specific ACMG/AMP classification criteria for germline APC variants: Recommendations from the ClinGen InSiGHT Hereditary Colorectal Cancer/Polyposis Variant Curation Expert Panel.

Spier I et al.

Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2024

Development and validation of a multigene variant profiling assay to guide targeted and immuno therapy selection in solid tumors.

Akolkar D et al.

Plos One, 2021

33556149 (PubMed )
Supplement: pone.0246048.s008.xlsx › Sheet1

An AT-rich region in the APC gene may cause misinterpretation of familial adenomatous polyposis molecular screening.

Palmirotta R et al.

Human Mutation, 2012

Novel LOVD databases for hereditary breast cancer and colorectal cancer genes in the Chinese population.

Pan M et al.

Human Mutation, 2011

Detection of genetic alterations in hereditary colorectal cancer screening.

Pineda M et al.

Mutation Research, 2010

Very high incidence of familial colorectal cancer in Newfoundland: a comparison with Ontario and 13 other population-based studies.

Green RC et al.

Familial Cancer, 2007

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

Friedl W et al.

Hereditary Cancer in Clinical Practice, 2005

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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."