Associated Papers
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
Tumor Signature Analysis Implicates Hereditary Cancer Genes in Endometrial Cancer Development.
Kondrashova O et al.
Cancers, 2021
33917078 (PubMed )
Supplement: cancers-13-01762-s001.zip › Kondrashova_etal_Supp_Tables.xlsx › Table_S5
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
Burden and Profile of Somatic Mutation in Duodenal Adenomas from Patients with Familial Adenomatous- and MUTYH-associated Polyposis.
Thomas LE et al.
Clinical Cancer Research : an Official Journal of the American Association for Cancer Research, 2017
Age- and Gender-Specific Risk of Thyroid Cancer in Patients With Familial Adenomatous Polyposis.
Uchino S et al.
The Journal of Clinical Endocrinology and Metabolism, 2016
Adenoma development in familial adenomatous polyposis and MUTYH-associated polyposis: somatic landscape and driver genes.
Rashid M et al.
The Journal of Pathology, 2016
26414517 (PubMed )
Supplement: PATH-238-98-s007.xlsx › Adenomas_Used_in_Study
HLA-G and susceptibility to develop celiac disease.
Catamo E et al.
Human Immunology, 2015
The APC Variant p.Glu1317Gln predisposes to colorectal adenomas by a novel mechanism of relaxing the target for tumorigenic somatic APC mutations.
Dallosso AR et al.
Human Mutation, 2009
Familial adenomatous polyposis: experience from a study of 1164 unrelated german polyposis patients.
Friedl W et al.
Hereditary Cancer in Clinical Practice, 2005
A comparison of the phenotype and genotype in adenomatous polyposis patients with and without a family history.
Truta B et al.
Familial Cancer, 2005
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