Varaico: Literature-Extracted Genetic Variants

Gene:APC
Variant:p.Q161*
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APC

NM_000038.6:p.Q161*

Associated Papers

Common gene mutations in 103 authenticated colorectal cancer cell lines.

Kranjec C et al.

Oncogenesis, 2026

41593049 (PubMed )
Supplement: 41389_2026_599_MOESM2_ESM.xlsx › Supplementary_Table_10

Decay of driver mutations shapes the landscape of intestinal transformation.

Lourenço FC et al.

Nature, 2026

41339549 (PubMed )
Supplement: 41586_2025_9762_MOESM11_ESM.xlsx › ED_Fig_3g

Plasma Metabolic Outliers Identified in Estonian Human Knockouts.

Yu K et al.

Metabolites, 2025

40422899 (PubMed )
Supplement: metabolites-15-00323-s001.zip › TableS2.xlsx › TableSY

Uncovering the genetic variation spectrum of colorectal polyposis from a multicentre cohort in China.

Yang M et al.

Npj Precision Oncology, 2025

40089605 (PubMed )
Supplement: 41698_2025_864_MOESM1_ESM.pdf

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

Endoscopic indicators in patients with familial adenomatous polyposis undergoing duodenal resections - a nationwide Danish cohort study with long-term follow-up.

Karstensen JG et al.

Familial Cancer, 2024

Rare Germline Variants in the Adenomatous Polyposis Coli Gene Associated with Dental and Osseous Anomalies.

Büki G et al.

International Journal of Molecular Sciences, 2024

Comprehensive characterization of CRC with germline mutations reveals a distinct somatic mutational landscape and elevated cancer risk in the Chinese population.

Yao J et al.

Cancer Biology & Medicine, 2022

Dento-osseous anomalies in patients with familial adenomatous polyposis: A follow-up study.

Almeida FT et al.

Clinical Oral Investigations, 2020

Validation of a Next-Generation Sequencing Pipeline for the Molecular Diagnosis of Multiple Inherited Cancer Predisposing Syndromes.

Paulo P et al.

The Journal of Molecular Diagnostics : Jmd, 2017

Age- and Gender-Specific Risk of Thyroid Cancer in Patients With Familial Adenomatous Polyposis.

Uchino S et al.

The Journal of Clinical Endocrinology and Metabolism, 2016

Colon cancer prevention by detection of APC gene mutation in a family with attenuated familial adenomatous polyposis.

Poovorawan K et al.

Asian Pacific Journal of Cancer Prevention : Apjcp, 2012

Attenuated familial adenomatous polyposis: a case report with mixed features and review of genotype-phenotype correlation.

Ionescu DN et al.

Archives of Pathology & Laboratory Medicine, 2005

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

Friedl W et al.

Hereditary Cancer in Clinical Practice, 2005

Molecular analysis of the APC and MYH genes in Czech families affected by FAP or multiple adenomas: 13 novel mutations.

Vandrovcová J 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."