Associated Papers
Featuring BRCA1 and BRCA2 germline mutational landscape from Asturias (North Spain).
Pitiot AS et al.
Clinical Genetics, 2024
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
Landscape of germline BRCA1/BRCA2 variants in breast and ovarian cancer in Peru.
Ferreyra Y et al.
Frontiers in Oncology, 2023
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
Prevalence of specific and recurrent/founder pathogenic variants in BRCA genes in breast and ovarian cancer in North Africa.
ElBiad O et al.
Bmc Cancer, 2022
Mutational Analysis of BRCA1 and BRCA2 Genes in Breast Cancer Patients from Eastern Sicily.
Stella S et al.
Cancer Management and Research, 2022
Study of the Genetic Variants in BRCA1/2 and Non-BRCA Genes in a Population-Based Cohort of 2155 Breast/Ovary Cancer Patients, Including 443 Triple-Negative Breast Cancer Patients, in Argentina.
Solano AR et al.
Cancers, 2021
K3326X and Other C-Terminal BRCA2 Variants Implicated in Hereditary Cancer Syndromes: A Review.
Baughan S et al.
Cancers, 2021
A Pediatric Case of Transformed Mycosis Fungoides in a BRCA2 Positive Patient.
Gross AM et al.
Journal of Pediatric Hematology/oncology, 2020
Germline variants in DNA repair genes associated with hereditary breast and ovarian cancer syndrome: analysis of a 21 gene panel in the Brazilian population.
da Costa E Silva Carvalho S et al.
Bmc Medical Genomics, 2020
The spectrum of BRCA1 and BRCA2 pathogenic sequence variants in Middle Eastern, North African, and South European countries.
Laitman Y et al.
Human Mutation, 2019
False-positive results released by direct-to-consumer genetic tests highlight the importance of clinical confirmation testing for appropriate patient care.
Tandy-Connor S et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2018
Evaluation of Recipients of Positive and Negative Secondary Findings Evaluations in a Hybrid CLIA-Research Sequencing Pilot.
Sapp JC et al.
American Journal of Human Genetics, 2018
BRCA1 and BRCA2 mutations and clinical interpretation in 398 ovarian cancer patients: comparison with breast cancer variants in a similar population.
Cardoso FC et al.
Human Genomics, 2018
BRCA1 and BRCA2 Mutations Other Than the Founder Alleles Among Ashkenazi Jewish in the Population of Argentina.
Solano AR et al.
Frontiers in Oncology, 2018
Spectrum of genetic variants of BRCA1 and BRCA2 in a German single center study.
Meisel C et al.
Archives of Gynecology and Obstetrics, 2017
Hereditary cancer syndromes in Latino populations: genetic characterization and surveillance guidelines.
Cruz-Correa M et al.
Hereditary Cancer in Clinical Practice, 2017
Exome sequencing covers >98% of mutations identified on targeted next generation sequencing panels.
LaDuca H et al.
Plos One, 2017
The validation and clinical implementation of BRCAplus: a comprehensive high-risk breast cancer diagnostic assay.
Chong HK et al.
Plos One, 2014
Mutational analysis of BRCA1 and BRCA2 in hereditary breast and ovarian cancer families from Asturias (Northern Spain).
Blay P et al.
Bmc Cancer, 2013
[Pancreatic cancer screening in a clinical practice setting: it is the moment of Prevention].
Adán-Merino L et al.
Revista De Gastroenterologia Del Peru : Organo Oficial De La Sociedad De Gastroenterologia Del Peru, 0