BRCA1 and BRCA2 gene variants and nonsyndromic cleft lip/palate.
Sign Up to like & getrecommendations! Published in 2018 at "Birth defects research"
DOI: 10.1002/bdr2.1346
Abstract: BACKGROUND Nonsyndromic cleft lip with or without cleft palate (NSCL/P) is a debilitating condition that not only affects the individual, but the entire family. The purpose of this study was to investigate the association of… read more here.
Keywords: brca1 brca2; brca2; cleft lip; nonsyndromic cleft ... See more keywords
The BRCA2 c.68‐7T > A variant is not pathogenic: A model for clinical calibration of spliceogenicity
Sign Up to like & getrecommendations! Published in 2018 at "Human Mutation"
DOI: 10.1002/humu.23411
Abstract: Although the spliceogenic nature of the BRCA2 c.68‐7T > A variant has been demonstrated, its association with cancer risk remains controversial. In this study, we accurately quantified by real‐time PCR and digital PCR (dPCR), the… read more here.
Keywords: cancer risk; brca2 variant; brca2; variant ... See more keywords
Common founder BRCA2 pathogenic variants and breast cancer characteristics in Ethiopian Jews
Sign Up to like & getrecommendations! Published in 2022 at "Breast Cancer Research and Treatment"
DOI: 10.1007/s10549-022-06557-9
Abstract: BRCA1/2 founder pathogenic variants (PVs) occur in various populations, but data on the mutational spectrum in Africans are limited. We examined BRCA1/2 PVs in breast cancer patients of Ethiopian Jewish (EJ) origin. We retrospectively analyzed… read more here.
Keywords: cancer; breast cancer; carrier; brca2 ... See more keywords
A comprehensive analysis of BRCA2 gene: focus on mechanistic aspects of its functions, spectrum of deleterious mutations, and therapeutic strategies targeting BRCA2-deficient tumors
Sign Up to like & getrecommendations! Published in 2018 at "Medical Oncology"
DOI: 10.1007/s12032-018-1085-8
Abstract: BRCA2is the main susceptibility gene known to be involved in the pathogenesis of breast cancer. It plays an important role in maintaining the genome stability by homologous recombination through DNA double-strand breaks repairing, by interacting… read more here.
Keywords: deficient tumors; brca2; brca2 deficient; brca2 gene ... See more keywords
Higher antitumor activity of trabectedin in germline BRCA2 carriers with advanced breast cancer as compared to BRCA1 carriers: A subset analysis of a dedicated phase II trial.
Sign Up to like & getrecommendations! Published in 2017 at "Breast"
DOI: 10.1016/j.breast.2017.04.006
Abstract: Specific alkylators may allow synthetic lethality among patients with germline BRCA1/2-mutations related cancers. The tetrahydroisoquinolone trabectedin administered at 1.3 mg/m2 as a 3-h intravenous infusion every 3 weeks showed activity in patients with pretreated metastatic breast… read more here.
Keywords: mutated patients; brca2 carriers; brca2 mutated; brca2 ... See more keywords
Pathogenicity reclassification of two BRCA1/BRCA2 exonic duplications after identification of genomic breakpoints and tandem orientation.
Sign Up to like & getrecommendations! Published in 2020 at "Cancer genetics"
DOI: 10.1016/j.cancergen.2020.09.001
Abstract: The genomic consequence and clinical interpretation of large duplications are difficult to infer without determining the location and orientation of the duplicated sequence. We aimed to characterize two intragenic duplications detected in two hereditary breast… read more here.
Keywords: genomic breakpoints; orientation; reclassification two; brca2 ... See more keywords
HSF2BP Interacts with a Conserved Domain of BRCA2 and Is Required for Mouse Spermatogenesis.
Sign Up to like & getrecommendations! Published in 2019 at "Cell reports"
DOI: 10.1016/j.celrep.2019.05.096
Abstract: The tumor suppressor BRCA2 is essential for homologous recombination (HR), replication fork stability, and DNA interstrand crosslink repair in vertebrates. We identify HSF2BP, a protein previously described as testis specific and not characterized functionally, as… read more here.
Keywords: hsf2bp interacts; hsf2bp; conserved domain; interacts conserved ... See more keywords
Prostate Cancer Risks for Male BRCA1 and BRCA2 Mutation Carriers: A Prospective Cohort Study☆
Sign Up to like & getrecommendations! Published in 2019 at "European Urology"
DOI: 10.1016/j.eururo.2019.08.025
Abstract: Background BRCA1 and BRCA2 mutations have been associated with prostate cancer (PCa) risk but a wide range of risk estimates have been reported that are based on retrospective studies. Objective To estimate relative and absolute… read more here.
Keywords: risk; prostate cancer; pca; brca2 ... See more keywords
BRCA1/BRCA2 Germline Mutation Carriers and Sporadic Pancreatic Ductal Adenocarcinoma.
Sign Up to like & getrecommendations! Published in 2018 at "Journal of the American College of Surgeons"
DOI: 10.1016/j.jamcollsurg.2017.12.021
Abstract: BACKGROUND The outcomes of sporadic pancreatic ductal adenocarcinoma (PDAC) patients with germline mutations of BRCA1/BRCA2 remains unclear. The prognostic significance of BRCA1/BRCA2 mutations on survival is not well established. STUDY DESIGN We performed targeted next-generation… read more here.
Keywords: brca2 germline; brca2; brca1 brca2; wild type ... See more keywords
EZH2 promotes degradation of stalled replication forks by recruiting MUS81 through histone H3 trimethylation
Sign Up to like & getrecommendations! Published in 2017 at "Nature Cell Biology"
DOI: 10.1038/ncb3626
Abstract: The emergence of resistance to poly-ADP-ribose polymerase inhibitors (PARPi) poses a threat to the treatment of BRCA1 and BRCA2 (BRCA1/2)-deficient tumours. Stabilization of stalled DNA replication forks is a recently identified PARPi-resistance mechanism that promotes… read more here.
Keywords: mus81; ezh2; resistance; brca2 ... See more keywords
Germline BRCA2 mutations drive prostate cancers with distinct evolutionary trajectories
Sign Up to like & getrecommendations! Published in 2017 at "Nature Communications"
DOI: 10.1038/ncomms13671
Abstract: Germline mutations in the BRCA2 tumour suppressor are associated with both an increased lifetime risk of developing prostate cancer (PCa) and increased risk of aggressive disease. To understand this aggression, here we profile the genomes… read more here.
Keywords: brca2 mutations; germline brca2; mutant pca; brca2 ... See more keywords