Associated Papers
Expanding the Genomic Landscape of HBOC and Cancer Risk Among Mutation Carriers.
Vietri MT et al.
International Journal of Molecular Sciences, 2025
Imetelstat-mediated alterations in fatty acid metabolism to induce ferroptosis as a therapeutic strategy for acute myeloid leukemia.
Bruedigam C et al.
Nature Cancer, 2024
Occurrence of variants of unknown clinical significance in genetic testing for hereditary breast and ovarian cancer syndrome and Lynch syndrome: a literature review and analytical observational retrospective cohort study.
Adam F et al.
Bmc Medical Genomics, 2023
Hybrid-seq deciphers the complex transcriptional profile of the human BRCA1 DNA repair associated gene.
Adamopoulos PG et al.
Rna Biology, 2023
Human BRCA pathogenic variants were originated during recent human history.
Li J et al.
Life Science Alliance, 2022
The Impact of Mediterranean Dietary Intervention on Metabolic and Hormonal Parameters According to BRCA1/2 Variant Type.
Oliverio A et al.
Frontiers in Genetics, 2022
The highest frequency of BRCA1 c.3700_3704del detected among Albanians from Kosovo.
Kostovska IM et al.
Reports of Practical Oncology and Radiotherapy : Journal of Greatpoland Cancer Center in Poznan and Polish Society of Radiation Oncology, 2022
One in seven pathogenic variants can be challenging to detect by NGS: an analysis of 450,000 patients with implications for clinical sensitivity and genetic test implementation.
Lincoln SE et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2021
Laboratory Verification of a BRCA1 and BRCA2 Massively Parallel Sequencing Assay from Wet Bench to Bioinformatics for Germline DNA Analysis.
Poon KS et al.
Global Medical Genetics, 2021
Novel and recurrent BRCA1/BRCA2 germline mutations in patients with breast/ovarian cancer: a series from the south of Tunisia.
Ben Ayed-Guerfali D et al.
Journal of Translational Medicine, 2021
Analysis of Italian BRCA1/2 Pathogenic Variants Identifies a Private Spectrum in the Population from the Bergamo Province in Northern Italy.
Figlioli G et al.
Cancers, 2021
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
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
Hereditary Breast and Ovarian Cancer in Families from Southern Italy (Sicily)-Prevalence and Geographic Distribution of Pathogenic Variants in BRCA1/2 Genes.
Incorvaia L et al.
Cancers, 2020
Cancer Susceptibility Mutations in Patients With Urothelial Malignancies.
Carlo MI et al.
Journal of Clinical Oncology : Official Journal of the American Society of Clinical Oncology, 2020
BRCA1/2 pathogenic variants in triple-negative versus luminal-like breast cancers: genotype-phenotype correlation in a cohort of 531 patients.
Incorvaia L et al.
Therapeutic Advances in Medical Oncology, 2020
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
The Ethnic-Specific Spectrum of Germline Nucleotide Variants in DNA Damage Response and Repair Genes in Hereditary Breast and Ovarian Cancer Patients of Tatar Descent.
Brovkina OI et al.
Frontiers in Oncology, 2018
Amplification of overlapping DNA amplicons in a single-tube multiplex PCR for targeted next-generation sequencing of BRCA1 and BRCA2.
Schenk D et al.
Plos One, 2017
Simultaneous detection of BRCA mutations and large genomic rearrangements in germline DNA and FFPE tumor samples.
Enyedi et al.
Oncotarget, 2016
Mutational analysis of BRCA1/2 gene and pathologic characteristics from Kazakh population with sporadic breast cancer in northwestern China.
Yang SY et al.
Genetics and Molecular Research : Gmr, 2015