Varaico: Literature-Extracted Genetic Variants

Gene:APC
Variant:p.C1270*
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APC

NM_000038.6:p.C1270*

Associated Papers

Histomorphological and Molecular Features of Colonic Large-Cell Neuroendocrine Carcinoma in a Patient With Familial Adenomatous Polyposis: A Case Report and Review of Literature.

Moustafa M et al.

International Journal of Surgical Pathology, 2026

Molecular characteristics of young-onset colorectal cancer in Vietnamese patients.

Do MD et al.

Asia-pacific Journal of Clinical Oncology, 2022

35098669 (PubMed )
Supplement: supplement_1.xlsx › Sheet1

Hearing Status of Children and Adolescents With Familial Adenomatous Polyposis.

Findlen UM et al.

Anticancer Research, 2021

Somatic Evolution in Non-neoplastic IBD-Affected Colon.

Olafsson S et al.

Cell, 2020

32697969 (PubMed )
Supplement: mmc4.xlsx › A__TCGA_hotspots

Exploiting differential Wnt target gene expression to generate a molecular biomarker for colorectal cancer stratification.

Kleeman SO et al.

Gut, 2020

31563876 (PubMed )
Supplement: gutjnl-2019-319126supp003.xlsx › Sup_Table_3

Functional characterization of CNOT3 variants identified in familial adenomatous polyposis adenomas.

Delacruz RGC et al.

Oncotarget, 2019

31231471 (PubMed )
Supplement: oncotarget-10-3939-s001.pdf

APC germline mutations in individuals being evaluated for familial adenomatous polyposis: a review of the Mayo Clinic experience with 1591 consecutive tests.

Kerr SE et al.

The Journal of Molecular Diagnostics : Jmd, 2013

Detection of sequence variations in the adenomatous polyposis coli (APC) gene using denaturing high-performance liquid chromatography.

Wu G et al.

Genetic Testing, 2001

The type of somatic mutation at APC in familial adenomatous polyposis is determined by the site of the germline mutation: a new facet to Knudson's 'two-hit' hypothesis.

Lamlum H et al.

Nature Medicine, 1999

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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."