Associated Papers
Regional Hereditary Cancer Program in Chile: A scalable model of genetic counseling and molecular diagnosis to improve clinical outcomes for patients with hereditary cancer across Latin America.
Landeros N et al.
Biological Research, 2024
Understanding genetic variations associated with familial breast cancer.
Pal M et al.
World Journal of Surgical Oncology, 2024
vaRHC: an R package for semi-automation of variant classification in hereditary cancer genes according to ACMG/AMP and gene-specific ClinGen guidelines.
Munté E et al.
Bioinformatics (oxford, England), 2023
Low expression of E-Cadherin and CDH1 variants associated with diffuse gastric cancer.
García-Ruvalcaba A et al.
Revista De Investigacion Clinica; Organo Del Hospital De Enfermedades De La Nutricion, 2023
Genetic analysis and prenatal diagnosis of short-rib thoracic dysplasia 3 with or without polydactyly caused by compound heterozygous variants of DYNC2H1 gene in four Chinese families.
Fang Y et al.
Frontiers in Genetics, 2023
Association of ATM, CDH1 and TP53 genes polymorphisms with familial breast cancer in patients of Khyber Pakhtunkhwa, Pakistan.
Rahim A et al.
African Health Sciences, 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
Mutational landscape of gastric adenocarcinoma in Latin America: A genetic approach for precision medicine.
Cerrato-Izaguirre D et al.
Genes & Diseases, 2022
CDH1 Germline Variants in a Tunisian Cohort with Hereditary Diffuse Gastric Carcinoma.
Ben Aissa-Haj J et al.
Genes, 2022
Case Report: Male Lobular Breast Cancer in Hereditary Cancer Syndromes.
Carnevali I et al.
Frontiers in Oncology, 2022
Adolescent triple-negative breast cancer with germline pathogenic variants in both BRCA1 and TP53 genes: A case report.
Chen D et al.
Frontiers in Oncology, 2022
Performance comparison: exome sequencing as a single test replacing Sanger sequencing.
Fridman H et al.
Molecular Genetics and Genomics : Mgg, 2021
Somatic Mutation Profiling of Papillary Thyroid Carcinomas by Whole-exome Sequencing and Its Relationship with Clinical Characteristics.
Qi T et al.
International Journal of Medical Sciences, 2021
Identification of New Tumor-Related Gene Mutations in Chinese Gastrointestinal Stromal Tumors.
Feng Y et al.
Frontiers in Cell and Developmental Biology, 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
A novel loss-of-function mutation of PBK associated with human kidney stone disease.
Nettuwakul C et al.
Scientific 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
Olaparib is effective for recurrent urothelial carcinoma with BRCA2 pathogenic germline mutation: first report on olaparib response in recurrent UC.
Yang H et al.
Therapeutic Advances in Medical Oncology, 2020
Identification of c.1531C>T Pathogenic Variant in the CDH1 Gene as a Novel Germline Mutation of Hereditary Diffuse Gastric Cancer.
Norero E et al.
International Journal of Molecular Sciences, 2019
Frequency of CDH1 germline variants and contribution of dietary habits in early age onset gastric cancer patients in Brazil.
Guindalini RSC et al.
Gastric Cancer : Official Journal of the International Gastric Cancer Association and the Japanese Gastric Cancer Association, 2019
CDH1 somatic alterations in Mexican patients with diffuse and mixed sporadic gastric cancer.
Bustos-Carpinteyro AR et al.
Bmc Cancer, 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
A Chinese family affected by lynch syndrome caused by MLH1 mutation.
Jia S et al.
Bmc Medical Genetics, 2018
Germline mutation in the TP53 gene in uveal melanoma.
Hajkova N et al.
Scientific Reports, 2018
CDH1 mutation screen in a BRCA1/2-negative familial breast-/ovarian cancer cohort.
Stuebs F et al.
Archives of Gynecology and Obstetrics, 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
Characterizing Metastatic HER2-Positive Gastric Cancer at the CDH1 Haplotype.
Caggiari L et al.
International Journal of Molecular Sciences, 2017
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
Novel CDH1 germline mutations identified in Chinese gastric cancer patients.
Chen QH et al.
World Journal of Gastroenterology, 2013
Integrating precision medicine in the study and clinical treatment of a severely mentally ill person.
O'Rawe JA et al.
Peerj, 2013
Identification and characterization of CDH1 germline variants in sporadic gastric cancer patients and in individuals at risk of gastric cancer.
Garziera M et al.
Plos One, 2013
Screening for BRCA1, BRCA2, CHEK2, PALB2, BRIP1, RAD50, and CDH1 mutations in high-risk Finnish BRCA1/2-founder mutation-negative breast and/or ovarian cancer individuals.
Kuusisto KM et al.
Breast Cancer Research : Bcr, 2011
Mechanisms and sequelae of E-cadherin silencing in hereditary diffuse gastric cancer.
Barber M et al.
The Journal of Pathology, 2008
Chromosome band 16q22-linked familial AML: exclusion of candidate genes, and possible disease risk modification by NQO1 polymorphisms.
Escher R et al.
Genes, Chromosomes & Cancer, 2004