A Ueki, R Yoshida, T Kosaka… - Journal of Human …, 2023 - nature.com
Opportunities for genetic counseling and germline BRCA1/2 (BRCA) testing are increasing in Japan owing to cancer genomic profiling testing and companion diagnostics being …
The BRCA Challenge is a long-term data-sharing project initiated within the Global Alliance for Genomics and Health (GA4GH) to aggregate BRCA1 and BRCA2 data to support highly …
S Sinha, SM Wang - Computational and Structural Biotechnology Journal, 2020 - Elsevier
Pathogenic mutation in BRCA1 gene is one of the most penetrant genetic predispositions towards cancer. Identification of the mutation provides important aspect in prevention and …
SM Caputo, L Golmard, M Léone, F Damiola… - The American Journal of …, 2021 - cell.com
Up to 80% of BRCA1 and BRCA2 genetic variants remain of uncertain clinical significance (VUSs). Only variants classified as pathogenic or likely pathogenic can guide breast and …
JB Goldstein, L Zhao, X Wang, Y Ghelman… - Clinical Cancer …, 2020 - AACR
Purpose: Family history of BRCA-related tumors may correlate with response to chemotherapy and overall survival (OS) in pancreatic cancer. The frequency of germline …
I Brandsma, K Sato, SE van Rossum-Fikkert… - Cell reports, 2019 - cell.com
The tumor suppressor BRCA2 is essential for homologous recombination (HR), replication fork stability, and DNA interstrand crosslink repair in vertebrates. We identify HSF2BP, a …
H Tubeuf, C Charbonnier, O Soukarieh… - Human …, 2020 - Wiley Online Library
Discriminating which nucleotide variants cause disease or contribute to phenotypic traits remains a major challenge in human genetics. In theory, any intragenic variant can …
G Istas, K Declerck, M Pudenz, KSV Szic… - Scientific reports, 2017 - nature.com
Abstract Genome-wide Illumina InfiniumMethylation 450 K DNA methylation analysis was performed on blood samples from clinical atherosclerosis patients (n= 8) and healthy donors …
Poly (ADP-ribose) polymerase inhibitors (PARPi) are the first clinically approved agents designed to exploit synthetic lethality. Based on the recent approvals, PARPi became …