Associated Papers
Oxford Nanopore Technologies [ONT] Sequencing: Clinical Validation in Genetically Heterogeneous Disorders.
Urtis M et al.
Genes, 2025
Molecular characterization of hereditary breast and ovarian cancer patients from a public precision medicine service in the Southeast Brazilian population.
Ribeiro AAF et al.
Scientific Reports, 2025
Impact of germline variants on breast and ovarian cancer risk in Japanese women: an original cohort study and meta-analysis.
Yazaki S et al.
Ebiomedicine, 2025
Germline Sequencing of Familial and Sporadic Early-Onset Colorectal Cancer: A Novel Pattern of Genes.
Vande Perre P et al.
International Journal of Molecular Sciences, 2025
Germline DNA Repair Gene Mutations and Clonal Hematopoiesis (CH) in 24,849 Patients with BRCA-Associated Cancers.
Marshall CH et al.
Cancers, 2025
Risk of lymphoid malignancy associated with cancer predisposition genes.
Boddicker NJ et al.
Blood Cancer Journal, 2025
Genetic Features of Tumours Arising in the Context of Suspected Hereditary Cancer Syndromes with RAD50, RAD51C/D, and BRIP1 Germline Mutations, Results of NGS-Reanalysis of BRCA/MMR-Negative Families.
Arranz-Ledo M et al.
Genes, 2025
Intersection of rare pathogenic variants from TCGA in the All of Us Research Program v6.
Bates BA et al.
Hgg Advances, 2025
Spectrum of germline pathogenic variants in Brazilian hereditary breast/ovarian cancer cases.
Faria JP et al.
Breast Cancer Research and Treatment, 2024
Prevalence of germline variants in Brazilian pancreatic carcinoma patients.
Rodrigues LM et al.
Scientific Reports, 2024
Comprehensive Genomic Studies on the Cell Blocks of Pancreatic Cancer.
Souza da Silva R et al.
Diagnostics (basel, Switzerland), 2024
Prevalence of Homologous Recombination Deficiency Among Patients With Germline RAD51C/D Breast or Ovarian Cancer.
Torres-Esquius S et al.
Jama Network Open, 2024
The Potential of Genetics in Identifying Women at Lower Risk of Breast Cancer.
Bolze A et al.
Jama Oncology, 2024
The prognostic and predictive value of homologous recombination deficiency status in patients with advanced stage epithelial ovarian carcinoma after first-line platinum-based chemotherapy.
Xu Y et al.
Frontiers in Oncology, 2024
Pathogenic variants in human DNA damage repair genes mostly arose after the latest human out-of-Africa migration.
He J et al.
Frontiers in Genetics, 2024
BRCA2 Germline Mutations Identify Gastric Cancers Responsive to PARP Inhibitors.
Petrelli A et al.
Cancer Research, 2023
The germline mutational landscape of genitourinary cancers and its indication for prognosis and risk.
Yang Y et al.
Bmc Urology, 2022
Increased Co-Occurrence of Pathogenic Variants in Hereditary Breast and Ovarian Cancer and Lynch Syndromes: A Consequence of Multigene Panel Genetic Testing?
Infante M et al.
International Journal of Molecular Sciences, 2022
Distinct landscapes of deleterious variants in DNA damage repair system in ethnic human populations.
Qin Z et al.
Life Science Alliance, 2022
Mutational landscape of gastric adenocarcinoma in Latin America: A genetic approach for precision medicine.
Cerrato-Izaguirre D et al.
Genes & Diseases, 2022
Detection of germline variants in Brazilian breast cancer patients using multigene panel testing.
Guindalini RSC et al.
Scientific Reports, 2022
Germline breast cancer susceptibility genes, tumor characteristics, and survival.
Ho PJ et al.
Genome Medicine, 2021
TUMOSPEC: A Nation-Wide Study of Hereditary Breast and Ovarian Cancer Families with a Predicted Pathogenic Variant Identified through Multigene Panel Testing.
Lesueur F et al.
Cancers, 2021
Breast cancer associated pathogenic variants among women 61 years and older with triple negative breast cancer.
Chávarri-Guerra Y et al.
Journal of Geriatric Oncology, 2021
Prospective high-throughput genome profiling of advanced cancers: results of the PERMED-01 clinical trial.
Bertucci F et al.
Genome Medicine, 2021
Tumor Signature Analysis Implicates Hereditary Cancer Genes in Endometrial Cancer Development.
Kondrashova O et al.
Cancers, 2021
Germline molecular data in hereditary breast cancer in Brazil: Lessons from a large single-center analysis.
Sandoval RL et al.
Plos One, 2021
Novel Insights From the Germline Landscape of Breast Cancer in Brazil.
Barbalho D et al.
Frontiers in Oncology, 2021
The mutational pattern of homologous recombination (HR)-associated genes and its relevance to the immunotherapeutic response in gastric cancer.
Fan Y et al.
Cancer Biology & Medicine, 2020
Gene Panel Tumor Testing in Ovarian Cancer Patients Significantly Increases the Yield of Clinically Actionable Germline Variants beyond BRCA1/BRCA2.
Barbosa A et al.
Cancers, 2020
Clinical and Molecular Assessment of Patients with Lynch Syndrome and Sarcomas Underpinning the Association with MSH2 Germline Pathogenic Variants.
de Angelis de Carvalho N et al.
Cancers, 2020
Retesting of women who are negative for a BRCA1 and BRCA2 mutation using a 20-gene panel.
Lerner-Ellis J et al.
Journal of Medical Genetics, 2020
One in three highly selected Greek patients with breast cancer carries a loss-of-function variant in a cancer susceptibility gene.
Fostira F et al.
Journal of Medical Genetics, 2020
DNA damage repair deficiency as a predictive biomarker for FOLFIRINOX efficacy in metastatic pancreatic cancer.
Palacio S et al.
Journal of Gastrointestinal Oncology, 2019
Exceptional response to FOLFIRINOX in a patient with pancreatic cancer and a germline RAD51C mutation.
Palacio S et al.
Journal of Gastrointestinal Oncology, 2018
Germline Mutations in PALB2, BRCA1, and RAD51C, Which Regulate DNA Recombination Repair, in Patients With Gastric Cancer.
Sahasrabudhe R et al.
Gastroenterology, 2017
Paclitaxel is necessary for improved survival in epithelial ovarian cancers with homologous recombination gene mutations.
Jean S et al.
Oncotarget, 2016
Patterns and functional implications of rare germline variants across 12 cancer types.
Lu C et al.
Nature Communications, 2015
RAD51C germline mutations found in Spanish site-specific breast cancer and breast-ovarian cancer families.
Blanco A et al.
Breast Cancer Research and Treatment, 2014