Varaico: Literature-Extracted Genetic Variants

Gene:APC
Variant:p.S1068fs
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APC

NM_000038.6:p.S1068fs

Associated Papers

Early genetic events in the colorectal carcinogenic pathway of familial adenomatous polyposis and sporadic polyp: germline and somatic alterations in carcinogenesis.

Tanabe H et al.

Frontiers in Genetics, 2025

41488735 (PubMed )
Supplement: Table2.xlsx › FAP

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

PIGA Mutations and Glycosylphosphatidylinositol Anchor Dysregulation in Polyposis-Associated Duodenal Tumorigenesis.

Meuser E et al.

Molecular Cancer Research : Mcr, 2024

38546397 (PubMed )
Supplement: mcr-23-0810_supplementary_table_s2_suppst2.xlsx › Sheet1

Optimizing clinical exome design and parallel gene-testing for recessive genetic conditions in preconception carrier screening: Translational research genomic data from 14,125 exomes.

Capalbo A et al.

Plos Genetics, 2019

31589614 (PubMed )
Supplement: pgen.1008409.s003.xlsx › Secondary_Findings_P_LP_Variant

Comparative sequencing analysis reveals high genomic concordance between matched primary and metastatic colorectal cancer lesions.

Brannon AR et al.

Genome Biology, 2014

25164765 (PubMed )
Supplement: 13059_2014_454_MOESM1_ESM.xlsx › Sheet1

APC gene mutations causing familial adenomatous polyposis in Polish patients.

Plawski A et al.

Journal of Applied Genetics, 2008

Multiple gynecologic tumors as rare associated phenotypes of FAP/Gardner syndrome in a family with the novel germline mutation in the APC gene.

Kovac M et al.

Clinical Genetics, 2006

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."