Associated Papers
Design and validation of a clinical whole genome sequencing-based assay for patient screening in a large healthcare system.
Wagner JT et al.
Frontiers in Molecular Biosciences, 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
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
Sequencing paired tumor DNA and white blood cells improves circulating tumor DNA tracking and detects pathogenic germline variants in localized colon cancer.
Gimeno-Valiente F et al.
Esmo Open, 2023
Determination of genetic predisposition to early breast cancer in women of Kazakh ethnicity.
Zhunussova G et al.
Oncotarget, 2023
Somatic and Germline Variants Affect Prognosis and Susceptibility in Prostate Cancer.
Rocca C et al.
Anticancer Research, 2023
Genomic Landscape of Normal and Breast Cancer Tissues in a Hungarian Pilot Cohort.
Pipek O et al.
International Journal of Molecular Sciences, 2023
Common and rare variants in patients with early onset drusen maculopathy.
de Breuk A et al.
Clinical Genetics, 2022
Responses to the Tepotinib in Gastric Cancers with MET Amplification or MET Exon 14 Skipping Mutations and High Expression of Both PD-L1 and CD44.
Sohn SH et al.
Cancers, 2022
Profiling diverse sequence tandem repeats in colorectal cancer reveals co-occurrence of microsatellite and chromosomal instability involving Chromosome 8.
Shin G et al.
Genome Medicine, 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
New Pathogenic Germline Variants in Very Early Onset and Familial Colorectal Cancer Patients.
Djursby M et al.
Frontiers in Genetics, 2020
REVEL and BayesDel outperform other in silico meta-predictors for clinical variant classification.
Tian Y et al.
Scientific Reports, 2019
Systematic analysis of the intersection of disease mutations with protein modifications.
Simpson CM et al.
Bmc Medical Genomics, 2019
An enhanced workflow for variant interpretation in UniProtKB/Swiss-Prot improves consistency and reuse in ClinVar.
Famiglietti ML et al.
Database : the Journal of Biological Databases and Curation, 2019
Unexpected cancer-predisposition gene variants in Cowden syndrome and Bannayan-Riley-Ruvalcaba syndrome patients without underlying germline PTEN mutations.
Yehia L et al.
Plos Genetics, 2018
Distinctive DNA mismatch repair and APC rare variants in African Americans with colorectal neoplasia.
Ashktorab H et al.
Oncotarget, 2017
Targeted sequencing of 36 known or putative colorectal cancer susceptibility genes.
DeRycke MS et al.
Molecular Genetics & Genomic Medicine, 2017
Integrated genomic analyses of de novo pathways underlying atypical meningiomas.
Harmancı AS et al.
Nature Communications, 2017
Reassessment of Genomic Sequence Variation to Harmonize Interpretation for Personalized Medicine.
Garber KB et al.
American Journal of Human Genetics, 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
Comprehensive screening for mutations associated with colorectal cancer in unselected cases reveals penetrant and nonpenetrant mutations.
Kraus C et al.
International Journal of Cancer, 2015
Use of a targeted, combinatorial next-generation sequencing approach for the study of bicuspid aortic valve.
Bonachea EM et al.
Bmc Medical Genomics, 2014
Role of rare variants in undetermined multiple adenomatous polyposis and early-onset colorectal cancer.
Lefevre JH et al.
Journal of Human Genetics, 2012
Increased variance in germline allele-specific expression of APC associates with colorectal cancer.
Curia MC et al.
Gastroenterology, 2012
Messing up disorder: how do missense mutations in the tumor suppressor protein APC lead to cancer?
Minde DP et al.
Molecular Cancer, 2011
Analysis of rare APC variants at the mRNA level: six pathogenic mutations and literature review.
Kaufmann A et al.
The Journal of Molecular Diagnostics : Jmd, 2009
Multiple rare nonsynonymous variants in the adenomatous polyposis coli gene predispose to colorectal adenomas.
Azzopardi D et al.
Cancer Research, 2008
RNA analysis reveals splicing mutations and loss of expression defects in MLH1 and BRCA1.
Sharp A et al.
Human Mutation, 2004
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
The Asp1822Val variant of the APC gene is a common polymorphism without clinical implications.
Ruiz-Ponte C et al.
Journal of Medical Genetics, 2001
Mutation analysis of the adenomatous polyposis coli (APC) gene in northwest Spanish patients with familial adenomatous polyposis (FAP) and sporadic colorectal cancer.
Ruiz-Ponte C et al.
Human Mutation, 2001
Novel germline mutations in the APC gene and their phenotypic spectrum in familial adenomatous polyposis kindreds.
Walon C et al.
Human Genetics, 1997
Germline mutations in the 3' part of APC exon 15 do not result in truncated proteins and are associated with attenuated adenomatous polyposis coli.
van der Luijt RB et al.
Human Genetics, 1996
[APC mutation analysis in sporadic colorectal cancer].
Huang J et al.
Zhonghua Zhong Liu Za Zhi [chinese Journal of Oncology], 1996