PI3K inhibition impairs BRCA1/2 expression and sensitizes BRCA-proficient triple-negative breast cancer to PARP inhibition
PARP inhibitors are active in tumors with defects in DNA homologous recombination (HR)
due to BRCA1/2 mutations. The phosphoinositide 3-kinase (PI3K) signaling pathway …
due to BRCA1/2 mutations. The phosphoinositide 3-kinase (PI3K) signaling pathway …
A RAD 51 assay feasible in routine tumor samples calls PARP inhibitor response beyond BRCA mutation
M Castroviejo‐Bermejo, C Cruz… - EMBO molecular …, 2018 - embopress.org
Abstract Poly (ADP‐ribose) polymerase (PARP) inhibitors (PARP i) are effective in cancers
with defective homologous recombination DNA repair (HRR), including BRCA 1/2‐related …
with defective homologous recombination DNA repair (HRR), including BRCA 1/2‐related …
Analysis of BRCA1 and BRCA2 genes in Spanish breast/ovarian cancer patients: A high proportion of mutations unique to Spain and evidence of founder effects
We screened index cases from 410 Spanish breast/ovarian cancer families and 214 patients
(19 of them males) with breast cancer for germ‐line mutations in the BRCA1 and BRCA2 …
(19 of them males) with breast cancer for germ‐line mutations in the BRCA1 and BRCA2 …
CAGI, the Critical Assessment of Genome Interpretation, establishes progress and prospects for computational genetic variant interpretation methods
N Null, S Jain, C Bakolitsa, SE Brenner, P Radivojac… - Genome …, 2024 - cris.unibo.it
Background: The Critical Assessment of Genome Interpretation (CAGI) aims to advance the
state-of-the-art for computational prediction of genetic variant impact, particularly where …
state-of-the-art for computational prediction of genetic variant impact, particularly where …
The Average Cumulative Risks of Breast and Ovarian Cancer for Carriers of Mutations in BRCA1 and BRCA2 Attending Genetic Counseling Units in Spain
Purpose: It is not clear that the published estimates of the breast and ovarian cancer
penetrances of mutations in BRCA1 and BRCA2 can be used in genetic counseling in …
penetrances of mutations in BRCA1 and BRCA2 can be used in genetic counseling in …
Individual patient data meta-analysis shows a significant association between the ATM rs1801516 SNP and toxicity after radiotherapy in 5456 breast and prostate …
CN Andreassen, BS Rosenstein, SL Kerns… - Radiotherapy and …, 2016 - Elsevier
Purpose Several small studies have indicated that the ATM rs1801516 SNP is associated
with risk of normal tissue toxicity after radiotherapy. However, the findings have not been …
with risk of normal tissue toxicity after radiotherapy. However, the findings have not been …
Preclinical In Vivo Validation of the RAD51 Test for Identification of Homologous Recombination-Deficient Tumors and Patient Stratification
B Pellegrino, A Herencia-Ropero, A Llop-Guevara… - Cancer research, 2022 - AACR
PARP inhibitors (PARPi) are approved drugs for platinum-sensitive, high-grade serous
ovarian cancer (HGSOC) and for breast, prostate, and pancreatic cancers (PaC) harboring …
ovarian cancer (HGSOC) and for breast, prostate, and pancreatic cancers (PaC) harboring …
Comprehensive annotation of splice junctions supports pervasive alternative splicing at the BRCA1 locus: a report from the ENIGMA consortium
M Colombo, MJ Blok, P Whiley… - Human molecular …, 2014 - academic.oup.com
Loss-of-function germline mutations in BRCA1 (MIM# 113705) confer markedly increased
risk of breast and ovarian cancer. The full-length transcript codifies for a protein involved in …
risk of breast and ovarian cancer. The full-length transcript codifies for a protein involved in …
[HTML][HTML] Molecular features of the basal-like breast cancer subtype based on BRCA1 mutation status
BRCA1-mutated breast cancer is associated with basal-like disease; however, it is currently
unclear if the presence of a BRCA1 mutation depicts a different entity within this subgroup. In …
unclear if the presence of a BRCA1 mutation depicts a different entity within this subgroup. In …
Association of Genomic Domains in BRCA1 and BRCA2 with Prostate Cancer Risk and Aggressiveness
VL Patel, EL Busch, TM Friebel, A Cronin, G Leslie… - Cancer research, 2020 - AACR
Pathogenic sequence variants (PSV) in BRCA1 or BRCA2 (BRCA1/2) are associated with
increased risk and severity of prostate cancer. We evaluated whether PSVs in BRCA1/2 …
increased risk and severity of prostate cancer. We evaluated whether PSVs in BRCA1/2 …