Varaico: Literature-Extracted Genetic Variants

Gene:GALNT12
Variant:p.D303N
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GALNT12

NM_024642.5:p.D303N

Associated Papers

Prevalence of germline variants in Brazilian pancreatic carcinoma patients.

Rodrigues LM et al.

Scientific Reports, 2024

39256447 (PubMed )
Supplement: 41598_2024_71884_MOESM1_ESM.docx

Prevalence of Variants of Uncertain Significance in Patients Undergoing Genetic Testing for Hereditary Breast and Ovarian Cancer and Lynch Syndrome.

Chrysafi P et al.

Cancers, 2023

Genetic Predisposition to Numerous Large Ulcerating Basal Cell Carcinomas and Response to Immune Therapy.

Dasgeb B et al.

International Journal of Dermatology and Venereology, 2021

Prospective Statewide Study of Universal Screening for Hereditary Colorectal Cancer: The Ohio Colorectal Cancer Prevention Initiative.

Pearlman R et al.

Jco Precision Oncology, 2021

Identification of MicroRNA-Related Tumorigenesis Variants and Genes in the Cancer Genome Atlas (TCGA) Data.

Li C et al.

Genes, 2020

32824926 (PubMed )
Supplement: genes-11-00953-s001.zip › Table_S4.xlsx › Sheet1

Collaborative Group of the Americas on Inherited Gastrointestinal Cancer Position statement on multigene panel testing for patients with colorectal cancer and/or polyposis.

Heald B et al.

Familial Cancer, 2020

New Pathogenic Germline Variants in Very Early Onset and Familial Colorectal Cancer Patients.

Djursby M et al.

Frontiers in Genetics, 2020

Diagnostic yield and clinical utility of a comprehensive gene panel for hereditary tumor syndromes.

Henn J et al.

Hereditary Cancer in Clinical Practice, 2019

30680046 (PubMed )
Supplement: 13053_2018_102_MOESM5_ESM.xlsx › 192_Variants

Genomic and Transcriptomic Characterization Links Cell Lines with Aggressive Head and Neck Cancers.

Cheng H et al.

Cell Reports, 2018

30380422 (PubMed )
Supplement: NIHMS1511993-supplement-6.xlsx › Table_S5

Evidence for GALNT12 as a moderate penetrance gene for colorectal cancer.

Evans DR et al.

Human Mutation, 2018

Targeted sequencing of 36 known or putative colorectal cancer susceptibility genes.

DeRycke MS et al.

Molecular Genetics & Genomic Medicine, 2017

28944238 (PubMed )
Supplement: MGG3-5-553-s002.xlsx › ST2

A knowledge-based framework for the discovery of cancer-predisposing variants using large-scale sequencing breast cancer data.

Melloni GEM et al.

Breast Cancer Research : Bcr, 2017

Role of GALNT12 in the genetic predisposition to attenuated adenomatous polyposis syndrome.

Lorca V et al.

Plos One, 2017

A glycogene mutation map for discovery of diseases of glycosylation.

Hansen L et al.

Glycobiology, 2015

Large numbers of individuals are required to classify and define risk for rare variants in known cancer risk genes.

Shirts BH et al.

Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2014

Clinically significant missense variants in human GALNT3, GALNT8, GALNT12, and GALNT13 genes: intriguing in silico findings.

Hussain MRM et al.

Journal of Cellular Biochemistry, 2014

GALNT12 is not a major contributor of familial colorectal cancer type X.

Seguí N et al.

Human Mutation, 2014

Inherited deleterious variants in GALNT12 are associated with CRC susceptibility.

Clarke E et al.

Human Mutation, 2012

Confirmation of linkage to and localization of familial colon cancer risk haplotype on chromosome 9q22.

Gray-McGuire C et al.

Cancer Research, 2010

Inactivating germ-line and somatic mutations in polypeptide N-acetylgalactosaminyltransferase 12 in human colon cancers.

Guda K et al.

Proceedings of the National Academy of Sciences of the United States of America, 2009

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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."