Associated Papers
The Concordance of Secondary Pathogenic Germline Variants Identified by Tumor Genomic Profiling in Adult Solid Tumor Patients at Two US Community Cancer Centers.
Moncado S et al.
Genes, 2025
Identification and Computational Analysis of BRCA2 Variants in Mexican Women from Jalisco, Mexico, with Breast and Ovarian Cancer.
García-Verdín PM et al.
Medical Sciences (basel, Switzerland), 2025
The role of multi-organ cancer predisposition genes in the risk of inherited and histologically diverse gastric cancer.
Guerra J et al.
Ebiomedicine, 2025
Considerations for hereditary breast and ovarian cancer syndrome molecular diagnosis: experience from the clinical practice.
Potrony M et al.
Breast Cancer Research and Treatment, 2025
Breast Cancer Susceptibility Gene Sequence Variations and Development of Contralateral Breast Cancer.
Reiner AS et al.
Jama Network Open, 2024
Should We Offer Universal Germline Genetic Testing to All Patients with Pancreatic Cancer? A Multicenter Study.
Llach J et al.
Cancers, 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
Germline pathogenic variants associated with triple-negative breast cancer in US Hispanic and Guatemalan women using hospital and community-based recruitment strategies.
Godinez Paredes JM et al.
Breast Cancer Research and Treatment, 2024
Prospective Study of Homologous Recombination Repair Gene Mutation Prevalence in Patients With Advanced Prostate Cancer From Latin America: Challenges and Future Approaches.
Manneh R et al.
Jco Precision Oncology, 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
The Potential of Genetics in Identifying Women at Lower Risk of Breast Cancer.
Bolze A et al.
Jama Oncology, 2024
Feasibility and Clinical Utility of Reporting Hereditary Cancer Predisposition Pathogenic Variants Identified in Research Germline Sequencing: A Prospective Interventional Study.
Hutchcraft ML et al.
Jco Precision Oncology, 2024
BRCA2 mutations in familial breast cancer with prostate cancer: a case report and literature review.
Liu Z et al.
Frontiers in Oncology, 2024
Combining rare and common genetic variants improves population risk stratification for breast cancer.
Bolze A et al.
Genetics in Medicine Open, 2024
Recurrent genetic variants and prioritization of variants of uncertain clinical significance associated with hereditary breast and ovarian cancer in families from the Region of Murcia.
Rosado-Jiménez L et al.
Advances in Laboratory Medicine, 2023
The Prognostic Significance of Tumor-Infiltrating Lymphocytes, PD-L1, BRCA Mutation Status and Tumor Mutational Burden in Early-Stage High-Grade Serous Ovarian Carcinoma-A Study by the Spanish Group for Ovarian Cancer Research (GEICO).
Pizarro D et al.
International Journal of Molecular Sciences, 2023
A novel cancer risk prediction score for the natural course of FA patients with biallelic BRCA2/FANCD1 mutations.
Radulovic I et al.
Human Molecular Genetics, 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
APPLICATION OF THE ACMG/AMP FRAMEWORK TO CAPTURE EVIDENCE RELEVANT TO PREDICTED AND OBSERVED IMPACT ON SPLICING: RECOMMENDATIONS FROM THE CLINGEN SVI SPLICING SUBGROUP.
Walker LC et al.
Medrxiv : the Preprint Server for Health Sciences, 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 germline mutations in multiethnic gynecologic patients: A 10-year retrospective analysis from a single cancer institute.
Wei CH et al.
Plos One, 2023
Distinct landscapes of deleterious variants in DNA damage repair system in ethnic human populations.
Qin Z et al.
Life Science Alliance, 2022
Identification of hereditary breast and ovarian cancer germline variants in Granada (Spain): NGS perspective.
Molina-Zayas M et al.
Molecular Genetics and Genomics : Mgg, 2022
Detection of germline variants in Brazilian breast cancer patients using multigene panel testing.
Guindalini RSC et al.
Scientific Reports, 2022
Sensitivity and specificity of loss of heterozygosity analysis for the classification of rare germline variants in BRCA1/2: results of the observational AGO-TR1 study (NCT02222883).
Hauke J et al.
Journal of Medical Genetics, 2022
Germline pathogenic variants in Mexican patients with hereditary triple-negative breast cancer.
Chavarri-Guerra Y et al.
Salud Publica De Mexico, 2022
Hereditary Breast Cancer in the Brazilian State of Ceará (The CHANCE Cohort): Higher-Than-Expected Prevalence of Recurrent Germline Pathogenic Variants.
Gifoni ACLVC et al.
Frontiers in Oncology, 2022
Genetic epidemiology of BRCA1- and BRCA2-associated cancer across Latin America.
Herzog JS et al.
Npj Breast Cancer, 2021
Bayesian predictive model to assess BRCA2 mutational status according to clinical history: Early onset, metastatic phenotype or family history of breast/ovary cancer.
Leon P et al.
The Prostate, 2021
BRCA1/2 mutations and risk-reducing bilateral salpingo-oophorectomy among Latinas: The UPTAKE study.
Lynce F et al.
Journal of Genetic Counseling, 2021
BARD1 Pathogenic Variants are Associated with Triple-Negative Breast Cancer in a Spanish Hereditary Breast and Ovarian Cancer Cohort.
Rofes P et al.
Genes, 2021
Frequency of genomic secondary findings among 21,915 eMERGE network participants.
Unknown Author
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2020
BRCA2 c.8827C>T pathogenic mutation in a consanguineous Chinese family with hereditary breast cancer.
Wang J et al.
Molecular Genetics & Genomic Medicine, 2020
Genetic Counseling for Hereditary Gastric and Pancreatic Cancer in High-Risk Gastrointestinal Cancer Clinics: An Effective Strategy.
Llach J et al.
Cancers, 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
Ancestry-specific hereditary cancer panel yields: Moving toward more personalized risk assessment.
Roberts ME et al.
Journal of Genetic Counseling, 2020
Consolidated BRCA1/2 Variant Interpretation by MH BRCA Correlates with Predicted PARP Inhibitor Efficacy Association by MH Guide.
Hirotsu Y et al.
International Journal of Molecular Sciences, 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
Compound Heterozygous Variants in Pediatric Cancers: A Systematic Review.
Miller DB et al.
Frontiers in Genetics, 2020
Genetic and clinical characterization of BRCA-associated hereditary breast and ovarian cancer in Navarra (Spain).
Ruiz de Sabando A et al.
Bmc Cancer, 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