Survey of deep learning in breast cancer image analysis

TG Debelee, F Schwenker, A Ibenthal, D Yohannes - Evolving Systems, 2020 - Springer
Computer-aided image analysis for better understanding of images has been time-honored
approaches in the medical computing field. In the conventional machine learning approach …

Clinical risk management of breast, ovarian, pancreatic, and prostatic cancers for BRCA1/2 variant carriers in Japan

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 …

BRCA Challenge: BRCA Exchange as a global resource for variants in BRCA1 and BRCA2

MS Cline, RG Liao, MT Parsons, B Paten… - PLoS …, 2018 - journals.plos.org
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 …

[HTML][HTML] Classification of VUS and unclassified variants in BRCA1 BRCT repeats by molecular dynamics simulation

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 …

[HTML][HTML] Classification of 101 BRCA1 and BRCA2 variants of uncertain significance by cosegregation study: a powerful approach

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 …

Germline DNA sequencing reveals novel mutations predictive of overall survival in a cohort of patients with pancreatic cancer

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 …

HSF2BP interacts with a conserved domain of BRCA2 and is required for mouse spermatogenesis

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 …

Large‐scale comparative evaluation of user‐friendly tools for predicting variant‐induced alterations of splicing regulatory elements

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 …

Identification of differentially methylated BRCA1 and CRISP2 DNA regions as blood surrogate markers for cardiovascular disease

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 …

PARP inhibitors for metastatic castration-resistant prostate cancer: Biological rationale and current evidence

M Bieńkowski, B Tomasik, M Braun, J Jassem - Cancer Treatment Reviews, 2022 - Elsevier
Poly (ADP-ribose) polymerase inhibitors (PARPi) are the first clinically approved agents
designed to exploit synthetic lethality. Based on the recent approvals, PARPi became …