Associated Papers
Investigation of Exome-Wide Tumor Heterogeneity on Colorectal Tissue-Based Single Cells.
Szakállas N et al.
International Journal of Molecular Sciences, 2025
Tumor DNA from tumor in situ fluid was used to track evolution of glioma under first-line treatment.
Yu J et al.
Frontiers in Oncology, 2025
Targeted sequencing for hereditary breast and ovarian cancer in BRCA1/2-negative families reveals complex genetic architecture and phenocopies.
Plowman JN et al.
Hgg Advances, 2024
Protocol optimization of a targeted sequencing panel for genomic profiling of bronchoalveolar lavage fluid in lung cancer.
Sather CL et al.
Cancer Medicine, 2023
Constitutional chromothripsis of the APC locus as a cause of genetic predisposition to colon cancer.
Scharf F et al.
Journal of Medical Genetics, 2022
Synonymous Variants: Necessary Nuance in Our Understanding of Cancer Drivers and Treatment Outcomes.
Kaissarian NM et al.
Journal of the National Cancer Institute, 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
Non-polyalanine repeat mutation in PHOX2B is detected in autopsy cases of sudden unexpected infant death.
Ueda A et al.
Plos One, 2022
First case report of a NUP98-PMX1 rearrangement in de novo acute myeloid leukemia and literature review.
Fu W et al.
Bmc Medical Genomics, 2021
Microsecond-timescale MD simulation of EGFR minor mutation predicts the structural flexibility of EGFR kinase core that reflects EGFR inhibitor sensitivity.
Yoshizawa T et al.
Npj Precision Oncology, 2021
Prevalence of germline pathogenic variants in 22 cancer susceptibility genes in Swedish pediatric cancer patients.
von Stedingk K et al.
Scientific Reports, 2021
A Novel Splice Variant (c.438T>A) of APC, Suspected by Family History and Confirmed by RNA Sequencing.
Lee H et al.
Annals of Laboratory Medicine, 2021
A deep analysis using panel-based next-generation sequencing in an Ecuadorian pediatric patient with anaplastic astrocytoma: a case report.
García-Cárdenas JM et al.
Journal of Medical Case Reports, 2020
Mutational landscape and genetic signatures of cell-free DNA in tumour-induced osteomalacia.
Wu N et al.
Journal of Cellular and Molecular Medicine, 2020
Development and Validation of a 34-Gene Inherited Cancer Predisposition Panel Using Next-Generation Sequencing.
Rosenthal SH et al.
Biomed Research International, 2020
Intraventricular meningiomas frequently harbor NF2 mutations but lack common genetic alterations in TRAF7, AKT1, SMO, KLF4, PIK3CA, and TERT.
Jungwirth G et al.
Acta Neuropathologica Communications, 2019
Deleterious Mutations in DNA Repair Gene FANCC Exist in BRCA1/2-Negative Chinese Familial Breast and/or Ovarian Cancer Patients.
Pan ZW et al.
Frontiers in Oncology, 2019
Synonymous mutation adenomatous polyposis coliΔ486s affects exon splicing and may predispose patients to adenomatous polyposis coli/mutY DNA glycosylase mutation‑negative familial adenomatous polyposis.
Liu WQ et al.
Molecular Medicine Reports, 2018
A Chinese family affected by lynch syndrome caused by MLH1 mutation.
Jia S et al.
Bmc Medical Genetics, 2018
Validation of CZECANCA (CZEch CAncer paNel for Clinical Application) for targeted NGS-based analysis of hereditary cancer syndromes.
Soukupova J et al.
Plos One, 2018
Targeted exome sequencing reveals distinct pathogenic variants in Iranians with colorectal cancer.
Ashktorab H et al.
Oncotarget, 2017
Detecting APC Gene Mutations in Familial Adenomatous Polyposis (FAP).
Nallamilli BRR et al.
Current Protocols in Human Genetics, 2017
A comprehensive custom panel design for routine hereditary cancer testing: preserving control, improving diagnostics and revealing a complex variation landscape.
Castellanos E et al.
Scientific Reports, 2017
The effect of a germline mutation in the APC gene on β-catenin in human embryonic stem cells.
Yedid N et al.
Bmc Cancer, 2016
Investigating polymorphisms by bioinformatics is a potential cost-effective method to screen for germline mutations in Chinese familial adenomatous polyposis patients.
Yang J et al.
Oncology Letters, 2016
Reduced expression of APC-1B but not APC-1A by the deletion of promoter 1B is responsible for familial adenomatous polyposis.
Yamaguchi K et al.
Scientific Reports, 2016
CDH1 germ-line missense mutation identified by multigene sequencing in a family with no history of diffuse gastric cancer.
Lajus TB et al.
Gene, 2015
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
Detection of APC mosaicism by next-generation sequencing in an FAP patient.
Yamaguchi K et al.
Journal of Human Genetics, 2015
Pooled sequencing of 531 genes in inflammatory bowel disease identifies an associated rare variant in BTNL2 and implicates other immune related genes.
Prescott NJ et al.
Plos Genetics, 2015
Attenuated familial adenomatous polyposis with desmoids caused by an APC mutation.
Ikenoue T et al.
Human Genome Variation, 2015
Sequencing an Ashkenazi reference panel supports population-targeted personal genomics and illuminates Jewish and European origins.
Carmi S et al.
Nature Communications, 2014
Potentially functional SNPs (pfSNPs) as novel genomic predictors of 5-FU response in metastatic colorectal cancer patients.
Wang J et al.
Plos One, 2014
Abstracts of InSiGHT 5th Biennial Meeting. Pedigree, familial aspects of cancer and the Human Variome Project in conjunction with the COSA Familial Cancer Group. August 28-31, 2013.
Unknown Author
Familial Cancer, 2013
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
Integrating precision medicine in the study and clinical treatment of a severely mentally ill person.
O'Rawe JA et al.
Peerj, 2013
Single nucleotide polymorphisms of the APC gene and colorectal cancer risk: a case-control study in Taiwan.
Chen SP et al.
Bmc Cancer, 2006