Varaico: Literature-Extracted Genetic Variants

Gene:APC
Variant:p.D1942_R1943delFs
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APC

NM_000038.6:p.D1942_R1943delFs

Associated Papers

Multi-locus inherited neoplasia alleles syndromes in cancer: implications for clinical practice.

Yuen J et al.

European Journal of Human Genetics : Ejhg, 2025

39843919 (PubMed )
Supplement: 41431_2025_1785_MOESM2_ESM.pdf

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

Lin L et al.

Hereditary Cancer in Clinical Practice, 2024

Region-specific Wnt signaling responses promote gastric polyp formation in patients with familial adenomatous polyposis.

McGowan KP et al.

Jci Insight, 2023

Analysis of germline variants in pediatric patients diagnosed with desmoid tumors and nuchal-type fibromas.

Alba-Pavón P et al.

Translational Pediatrics, 2023

Multilocus Inherited Neoplasia Allele Syndrome (MINAS): an update.

McGuigan A et al.

European Journal of Human Genetics : Ejhg, 2022

34983940 (PubMed )
Supplement: 41431_2021_1013_MOESM1_ESM.pdf

Aberrant Signaling Pathways in Sinonasal Intestinal-Type Adenocarcinoma.

Riobello C et al.

Cancers, 2021

34638506 (PubMed )
Supplement: cancers-13-05022-s001.zip › cancers-1416120-supplementary.pdf

Lower Rate of CTNNB1 Mutations and Higher Rate of APC Mutations in Desmoid Fibromatosis of the Breast: A Series of 134 Tumors.

Norkowski E et al.

The American Journal of Surgical Pathology, 2020

Does multilocus inherited neoplasia alleles syndrome have severe clinical expression?

Stradella A et al.

Journal of Medical Genetics, 2019

From Gardner fibroma diagnosis to constitutional APC mutation detection: a one-way street.

Santoro C et al.

Clinical Case Reports, 2017

Hereditary cancer syndromes in Latino populations: genetic characterization and surveillance guidelines.

Cruz-Correa M et al.

Hereditary Cancer in Clinical Practice, 2017

Identification of previously unrecognized FAP in children with Gardner fibroma.

Vieira J et al.

European Journal of Human Genetics : Ejhg, 2015

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."