Associated Papers
Activity of Brigatinib in Patients With Crizotinib-Resistant ALK-positive Non-Small-Cell Lung Cancer According to ALK Fusion and Mutation Status.
Bazhenova L et al.
Clinical Lung Cancer, 2025
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
Massive parallel sequencing unveils homologous recombination deficiency in follicular dendritic cell sarcoma.
Lorenzi L et al.
Haematologica, 2024
Germline variants in early and late-onset Brazilian prostate cancer patients.
Coelho KBCA et al.
Urologic Oncology, 2024
The evolutionary impact of childhood cancer on the human gene pool.
Stoltze UK et al.
Nature Communications, 2024
Germline mutations in pediatric cancer cohort with mixed-ancestry Mexicans.
Alonso-Luna O et al.
Molecular Genetics & Genomic Medicine, 2024
Genomic profiling of idiopathic peri-hilar cholangiocarcinoma reveals new targets and mutational pathways.
Quinn LM et al.
Scientific Reports, 2023
Mutation Spectrum of Familial Adenomatous Polyposis Patients in Turkish Population: Identification of 3 Novel APC Mutations.
Arslan Ateş E et al.
The Turkish Journal of Gastroenterology : the Official Journal of Turkish Society of Gastroenterology, 2022
The clinical significance of adenomatous polyposis coli (APC) and catenin Beta 1 (CTNNB1) genetic aberrations in patients with melanoma.
Karachaliou GS et al.
Bmc Cancer, 2022
Genetic Variants and Tumor Immune Microenvironment: Clues for Targeted Therapies in Inflammatory Breast Cancer (IBC).
Gong Y et al.
International Journal of Molecular Sciences, 2021
Comprehensive germline-genomic and clinical profiling in 160 unselected children and adolescents with cancer.
Wagener R et al.
European Journal of Human Genetics : Ejhg, 2021
Prevalence of germline pathogenic variants in 22 cancer susceptibility genes in Swedish pediatric cancer patients.
von Stedingk K et al.
Scientific Reports, 2021
Targeting G1/S phase cell-cycle genomic alterations and accompanying co-alterations with individualized CDK4/6 inhibitor-based regimens.
Kato S et al.
Jci Insight, 2021
Nationwide germline whole genome sequencing of 198 consecutive pediatric cancer patients reveals a high incidence of cancer prone syndromes.
Byrjalsen A et al.
Plos Genetics, 2020
Personalized cancer therapy prioritization based on driver alteration co-occurrence patterns.
Mateo L et al.
Genome Medicine, 2020
Identification of MicroRNA-Related Tumorigenesis Variants and Genes in the Cancer Genome Atlas (TCGA) Data.
Li C et al.
Genes, 2020
Clinicopathological characteristics and genetic analysis of pulmonary carcinoid tumors: A single-center retrospective cohort study and literature review.
Li X et al.
Oncology Letters, 2020
Validation and clinical application of a targeted next-generation sequencing gene panel for solid and hematologic malignancies.
Prieto-Potin I et al.
Peerj, 2020
Identification of a novel large EPCAM-MSH2 duplication, concurrently with LOHs in chromosome 20 and X, in a family with Lynch syndrome.
Pirini F et al.
International Journal of Colorectal Disease, 2019
Mutation profiling of cancer drivers in Brazilian colorectal cancer.
Dos Santos W et al.
Scientific Reports, 2019
REVEL and BayesDel outperform other in silico meta-predictors for clinical variant classification.
Tian Y et al.
Scientific Reports, 2019
A Young Male with Parafibromin-Deficient Parathyroid Carcinoma Due to a Rare Germline HRPT2/CDC73 Mutation.
Kapur A et al.
Endocrine Pathology, 2018
Appendix-derived Pseudomyxoma Peritonei (PMP): Molecular Profiling Toward Treatment of a Rare Malignancy.
Gleeson EM et al.
American Journal of Clinical Oncology, 2018
Identification of different mutational profiles in cancers arising in specific colon segments by next generation sequencing.
Oliveira DM et al.
Oncotarget, 2018
Genome-wide profiling identifies the THYT1 signature as a distinctive feature of widely metastatic Papillary Thyroid Carcinomas.
Gandolfi G et al.
Oncotarget, 2018
Potentially pathogenic germline CHEK2 c.319+2T>A among multiple early-onset cancer families.
Dominguez-Valentin M et al.
Familial Cancer, 2018
Genomic and Proteomic Alterations in Desmoplastic Small Round Blue-Cell Tumors.
Bulbul A et al.
Jco Precision Oncology, 2018
Targeted sequencing of 36 known or putative colorectal cancer susceptibility genes.
DeRycke MS et al.
Molecular Genetics & Genomic Medicine, 2017
Multi-platform molecular profiling of a large cohort of glioblastomas reveals potential therapeutic strategies.
Xiu J et al.
Oncotarget, 2016
Molecular profiling of head and neck squamous cell carcinoma.
Feldman R et al.
Head & Neck, 2016
Pathogenic Mutations in Cancer-Predisposing Genes: A Survey of 300 Patients with Whole-Genome Sequencing and Lifetime Electronic Health Records.
He KY et al.
Plos One, 2016
High-resolution melting (HRM) re-analysis of a polyposis patients cohort reveals previously undetected heterozygous and mosaic APC gene mutations.
Out AA et al.
Familial Cancer, 2015
Assessing the clinical value of targeted massively parallel sequencing in a longitudinal, prospective population-based study of cancer patients.
Wong SQ et al.
British Journal of Cancer, 2015
How well do whole exome sequencing results correlate with medical findings? A study of 89 Mayo Clinic Biobank samples.
Middha S et al.
Frontiers in Genetics, 2015
Novel mutations of the APC gene and genetic consequences of splicing mutations in the Czech FAP families.
Schwarzová L et al.
Familial Cancer, 2013
Role of rare variants in undetermined multiple adenomatous polyposis and early-onset colorectal cancer.
Lefevre JH et al.
Journal of Human Genetics, 2012
Messing up disorder: how do missense mutations in the tumor suppressor protein APC lead to cancer?
Minde DP et al.
Molecular Cancer, 2011
Next generation sequencing in research and diagnostics of ocular birth defects.
Raca G et al.
Molecular Genetics and Metabolism, 2010
Functional characterization of the novel APC N1026S variant associated with attenuated familial adenomatous polyposis.
Menéndez M et al.
Gastroenterology, 2008
APC gene mutations causing familial adenomatous polyposis in Polish patients.
Plawski A et al.
Journal of Applied Genetics, 2008
Familial adenomatous polyposis: experience from a study of 1164 unrelated german polyposis patients.
Friedl W et al.
Hereditary Cancer in Clinical Practice, 2005
Definition of candidate low risk APC alleles in a Swedish population.
Zhou XL et al.
International Journal of Cancer, 2004
Germline Missense Changes in the APC Gene and Their Relationship to Disease.
Scott RJ et al.
Hereditary Cancer in Clinical Practice, 2004