Associated Papers
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
Region-specific Wnt signaling responses promote gastric polyp formation in patients with familial adenomatous polyposis.
McGowan KP et al.
Jci Insight, 2023
Mutational Analysis of a Familial Adenomatous Polyposis Pedigree with Bile Duct Polyp Phenotype.
Xie LJ et al.
Canadian Journal of Gastroenterology & Hepatology, 2021
Spectrum of mutations in genes associated with familial colorectal cancer syndrome (MLH1, MSH2, PMS2, MSH6, and APC): A not so common hereditary cancer syndrome in Indian population.
Bhai P et al.
Indian Journal of Gastroenterology : Official Journal of the Indian Society of Gastroenterology, 2020
Novel mutations and phenotypic associations identified through APC, MUTYH, NTHL1, POLD1, POLE gene analysis in Indian Familial Adenomatous Polyposis cohort.
Khan N et al.
Scientific Reports, 2017
Panel-based testing for inherited colorectal cancer: a descriptive study of clinical testing performed by a US laboratory.
Cragun D et al.
Clinical Genetics, 2014
Utilization of multigene panels in hereditary cancer predisposition testing: analysis of more than 2,000 patients.
LaDuca H et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2014
24763289 (PubMed )
Supplement: gim201440x3.xls › Sheet1
Mutational spectrum of APC and genotype-phenotype correlations in Greek FAP patients.
Fostira F et al.
Bmc Cancer, 2010
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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