Associated Papers
Rare Germline Variants in the Adenomatous Polyposis Coli Gene Associated with Dental and Osseous Anomalies.
Büki G et al.
International Journal of Molecular Sciences, 2024
The first clinical validation of whole-genome screening on standard trophectoderm biopsies of preimplantation embryos.
Xia Y et al.
F&s Reports, 2024
Technical Performance of a 430-Gene Preventative Genomics Assay to Identify Multiple Variant Types Associated with Adult-Onset Monogenic Conditions, Susceptibility Loci, and Pharmacogenetic Insights.
Silver A et al.
Journal of Personalized Medicine, 2022
Advantages and Limitations of Monitoring Circulating Tumor DNA Levels to Predict the Prognosis of Patients Diagnosed With Gastric Cancer.
He W et al.
Biomarker Insights, 2022
One in seven pathogenic variants can be challenging to detect by NGS: an analysis of 450,000 patients with implications for clinical sensitivity and genetic test implementation.
Lincoln SE et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2021
Importance of Extraintestinal Manifestations in Early Diagnosis of Gardner Syndrome.
Besteiro B et al.
Case Reports in Gastrointestinal Medicine, 2020
Germline cancer susceptibility gene variants, somatic second hits, and survival outcomes in patients with resected pancreatic cancer.
Yurgelun MB et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2019
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
Colonic organoids derived from human induced pluripotent stem cells for modeling colorectal cancer and drug testing.
Crespo M et al.
Nature Medicine, 2017
Novel mutations and phenotypic associations identified through APC, MUTYH, NTHL1, POLD1, POLE gene analysis in Indian Familial Adenomatous Polyposis cohort.
Khan N et al.
Scientific Reports, 2017
Hereditary cancer syndromes in Latino populations: genetic characterization and surveillance guidelines.
Cruz-Correa M et al.
Hereditary Cancer in Clinical Practice, 2017
Inactivation of promoter 1B of APC causes partial gene silencing: evidence for a significant role of the promoter in regulation and causative of familial adenomatous polyposis.
Rohlin A et al.
Oncogene, 2011
DominantMapper: rule-based analysis of SNP data for rapid mapping of dominant diseases in related nuclear families.
Carr IM et al.
Human Mutation, 2011
Three novel mutations of the APC gene in Korean patients with familial adenomatous polyposis.
Jang YH et al.
Cancer Genetics and Cytogenetics, 2010
Oncogenic KRAS is not necessary for Wnt signalling activation in APC-associated FAP adenomas.
Obrador-Hevia A et al.
The Journal of Pathology, 2010
The Italian external quality control program for familial adenomatous polyposis of the colon: five years of experience.
Censi F et al.
Genetic Testing and Molecular Biomarkers, 2010
Familial adenomatous polyposis: experience from a study of 1164 unrelated german polyposis patients.
Friedl W et al.
Hereditary Cancer in Clinical Practice, 2005
Molecular analysis of the APC and MYH genes in Czech families affected by FAP or multiple adenomas: 13 novel mutations.
Vandrovcová J et al.
Human Mutation, 2004