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
Histomorphological and molecular genetic characterization of different intratumoral regions and matched metastatic lymph nodes of colorectal cancer with heterogenous mismatch repair protein expression.
Zhang J et al.
Journal of Cancer Research and Clinical Oncology, 2023
Genomic analysis of plasma circulating tumor DNA in patients with heavily pretreated HER2 + metastatic breast cancer.
Lee K et al.
Scientific Reports, 2023
37336919 (PubMed )
Supplement: 41598_2023_35925_MOESM1_ESM.xlsx › Table_S4__patho_variants_
Necessity of multiplex ligation probe amplification in genetic tests: Germline variant analysis of the APC gene in familial adenomatous polyposis patients.
Lee JK et al.
Cancer Genetics, 2022
NGS-based liquid biopsy profiling identifies mechanisms of resistance to ALK inhibitors: a step toward personalized NSCLC treatment.
Sánchez-Herrero E et al.
Molecular Oncology, 2021
34058070 (PubMed )
Supplement: MOL2-15-2363-s001.docx
A next-generation sequencing-based strategy combining microsatellite instability and tumor mutation burden for comprehensive molecular diagnosis of advanced colorectal cancer.
Xiao J et al.
Bmc Cancer, 2021
33726687 (PubMed )
Supplement: 12885_2021_7942_MOESM3_ESM.xlsx › Table_S2
Validation and clinical application of a targeted next-generation sequencing gene panel for solid and hematologic malignancies.
Prieto-Potin I et al.
Peerj, 2020
33083132 (PubMed )
Supplement: peerj-08-10069-s011.xlsx › Table_S6
Molecular Basis of Inherited Colorectal Carcinomas in the Macedonian Population: An Update.
Staninova-Stojovska M et al.
Balkan Journal of Medical Genetics : Bjmg, 2019
Distinctive DNA mismatch repair and APC rare variants in African Americans with colorectal neoplasia.
Ashktorab H et al.
Oncotarget, 2017
29245953 (PubMed )
Supplement: oncotarget-08-99966-s003.xlsx › AA.APC
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 APC gene germline mutation in Chinese familial adenomatous polyposis by direct sequencing in combination with multiplex ligation-dependent probe amplification].
Jin P et al.
Zhonghua Yi Xue Za Zhi, 2010
Relative role of APC and MUTYH mutations in the pathogenesis of familial adenomatous polyposis.
Pezzi A et al.
Scandinavian Journal of Gastroenterology, 2009
Familial adenomatous polyposis: experience from a study of 1164 unrelated german polyposis patients.
Friedl W et al.
Hereditary Cancer in Clinical Practice, 2005
Mutation analysis of the adenomatous polyposis coli (APC) gene in Danish patients with familial adenomatous polyposis (FAP).
Bisgaard ML et al.
Human Mutation, 2004
De novo mutations in familial adenomatous polyposis (FAP).
Ripa R et al.
European Journal of Human Genetics : Ejhg, 2002
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