Associated Papers
Beyond BRCA deficiency: Clinical and molecular predictors of survival in patients with BRCA-deficient tubo-ovarian high-grade serous carcinoma.
Zwimpfer TA et al.
Medrxiv : the Preprint Server for Health Sciences, 2025
Estimating Cancer Penetrance in Carriers of BRCA2 Pathogenic Variants Using Cancer-Specific Polygenic Scores.
Prassas B et al.
Cancer Medicine, 2025
Medically Actionable Secondary Findings from Whole-Exome Sequencing (WES) Data in a Sample of 3972 Individuals.
Melo M et al.
International Journal of Molecular Sciences, 2025
Multi-locus inherited neoplasia alleles syndromes in cancer: implications for clinical practice.
Yuen J et al.
European Journal of Human Genetics : Ejhg, 2025
Insights into the genetic landscape of pheochromocytomas and paragangliomas in a Brazilian cohort.
Fagundes GFC et al.
European Journal of Endocrinology, 2025
Genetic and clinical characteristics of genetic tumor syndromes in the central nervous system cancers: Implications for clinical practice.
Wang C et al.
Iscience, 2024
Molecular analysis of BRCA1 and BRCA2 genes in La Rioja (Spain): five new variants.
Salazar Saez R et al.
Hereditary Cancer in Clinical Practice, 2024
Featuring BRCA1 and BRCA2 germline mutational landscape from Asturias (North Spain).
Pitiot AS et al.
Clinical Genetics, 2024
Using Portuguese BRCA pathogenic variation as a model to study the impact of human admixture on human health.
Andaluz S et al.
Bmc Genomics, 2024
Systematic review of the molecular basis of hereditary breast and ovarian cancer syndrome in Brazil: the current scenario.
de Freitas Ribeiro AA et al.
European Journal of Medical Research, 2024
Age-specific breast and ovarian cancer risks associated with germline BRCA1 or BRCA2 pathogenic variants - an Asian study of 572 families.
Ho WK et al.
The Lancet Regional Health. Western Pacific, 2024
Prevalence and clinical implications of germline pathogenic variants in cancer predisposing genes in young patients across sarcoma subtypes.
Carvalho NA et al.
Journal of Medical Genetics, 2023
Exome Sequencing Reveals Novel Germline Variants in Breast Cancer Patients in the Southernmost Region of Thailand.
Sukpan P et al.
Journal of Personalized Medicine, 2023
Hereditary Breast Cancer in Romania-Molecular Particularities and Genetic Counseling Challenges in an Eastern European Country.
Cătană A et al.
Biomedicines, 2023
Ethnic-specificity, evolution origin and deleteriousness of Asian BRCA variation revealed by over 7500 BRCA variants derived from Asian population.
Qin Z et al.
International Journal of Cancer, 2023
Systematic review of reported association studies of monogenic genes and bladder cancer risk and confirmation analysis in a large population cohort.
Mian A et al.
Bjui Compass, 2023
Prevalence of Pathogenic Germline Mutations in 13 Hereditary Cancer-Related Genes in Breast Cancer Patients in Narathiwat Province, Thailand.
Sukpan P et al.
Asian Pacific Journal of Cancer Prevention : Apjcp, 2023
Utilization of cytologic cell blocks for targeted sequencing of solid tumors.
Vormittag-Nocito E et al.
Cancer Medicine, 2023
Using species richness calculations to model the global profile of unsampled pathogenic variants: Examples from BRCA1 and BRCA2.
Rao ND et al.
Plos One, 2023
BRCA testing on buccal swab to improve access to healthcare and cancer prevention: a performance evaluation.
De Paolis E et al.
International Journal of Gynecological Cancer : Official Journal of the International Gynecological Cancer Society, 2022
Analysis of clinically relevant variants from ancestrally diverse Asian genomes.
Chan SH et al.
Nature Communications, 2022
Overlap of high-risk individuals predicted by family history, and genetic and non-genetic breast cancer risk prediction models: implications for risk stratification.
Ho PJ et al.
Bmc Medicine, 2022
Population-based estimates of breast cancer risk for carriers of pathogenic variants identified by gene-panel testing.
Southey MC et al.
Npj Breast Cancer, 2021
Germline breast cancer susceptibility genes, tumor characteristics, and survival.
Ho PJ et al.
Genome Medicine, 2021
Implementing NGS-based BRCA tumour tissue testing in FFPE ovarian carcinoma specimens: hints from a real-life experience within the framework of expert recommendations.
Rivera D et al.
Journal of Clinical Pathology, 2021
Implementation of Multigene Germline and Parallel Somatic Genetic Testing in Epithelial Ovarian Cancer: SIGNPOST Study.
Chandrasekaran D et al.
Cancers, 2021
Germline FFPE inherited cancer panel testing in deceased family members: implications for clinical management of unaffected relatives.
Bennett S et al.
European Journal of Human Genetics : Ejhg, 2021
Germline molecular data in hereditary breast cancer in Brazil: Lessons from a large single-center analysis.
Sandoval RL et al.
Plos One, 2021
Heritable Susceptibility to Breast Cancer among African-American Women in the Detroit Research on Cancer Survivors Study.
Purrington KS et al.
Cancer Epidemiology, Biomarkers & Prevention : a Publication of the American Association for Cancer Research, Cosponsored by the American Society of Preventive Oncology, 2020
Prostate Cancer Risk by BRCA2 Genomic Regions.
Nyberg T et al.
European Urology, 2020
Exome sequencing and characterization of 49,960 individuals in the UK Biobank.
Van Hout CV et al.
Nature, 2020
Characterization of the Cancer Spectrum in Men With Germline BRCA1 and BRCA2 Pathogenic Variants: Results From the Consortium of Investigators of Modifiers of BRCA1/2 (CIMBA).
Silvestri V et al.
Jama Oncology, 2020
Routine Plasma-Based Genotyping to Comprehensively Detect Germline, Somatic, and Reversion BRCA Mutations among Patients with Advanced Solid Tumors.
Vidula N et al.
Clinical Cancer Research : an Official Journal of the American Association for Cancer Research, 2020
Spectrum of Germline BRCA1 and BRCA2 Variants Identified in 2351 Ovarian and Breast Cancer Patients Referring to a Reference Cancer Hospital of Rome.
Santonocito C et al.
Cancers, 2020
Classification of variants of uncertain significance in BRCA1 and BRCA2 using personal and family history of cancer from individuals in a large hereditary cancer multigene panel testing cohort.
Li H et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2020
Exome sequencing reveals a high prevalence of BRCA1 and BRCA2 founder variants in a diverse population-based biobank.
Abul-Husn NS et al.
Genome Medicine, 2019
Optimizing clinical exome design and parallel gene-testing for recessive genetic conditions in preconception carrier screening: Translational research genomic data from 14,125 exomes.
Capalbo A et al.
Plos Genetics, 2019
Germline variation in BRCA1/2 is highly ethnic-specific: Evidence from over 30,000 Chinese hereditary breast and ovarian cancer patients.
Bhaskaran SP et al.
International Journal of Cancer, 2019
A portrait of germline mutation in Brazilian at-risk for hereditary breast cancer.
de Souza Timoteo AR et al.
Breast Cancer Research and Treatment, 2018
Exome Sequencing-Based Screening for BRCA1/2 Expected Pathogenic Variants Among Adult Biobank Participants.
Manickam K et al.
Jama Network Open, 2018
The germline mutational landscape of BRCA1 and BRCA2 in Brazil.
Palmero EI et al.
Scientific Reports, 2018
Inherited mutations in BRCA1 and BRCA2 in an unselected multiethnic cohort of Asian patients with breast cancer and healthy controls from Malaysia.
Wen WX et al.
Journal of Medical Genetics, 2018
GEMO, a National Resource to Study Genetic Modifiers of Breast and Ovarian Cancer Risk in BRCA1 and BRCA2 Pathogenic Variant Carriers.
Lesueur F et al.
Frontiers in Oncology, 2018