Associated Papers
BRCA1 secondary splice-site mutations drive exon-skipping and PARP inhibitor resistance.
Nesic K et al.
Molecular Cancer, 2024
BRCA1 secondary splice-site mutations drive exon-skipping and PARP inhibitor resistance.
Nesic K et al.
Medrxiv : the Preprint Server for Health Sciences, 2023
Analyzing the effects of BRCA1/2 variants on mRNA splicing by minigene assay.
Dong Z et al.
Journal of Human Genetics, 2023
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
32380732 (PubMed )
Supplement: cancers-12-01158-s001.pdf
The BRCA1 c.4096+3A>G Variant Displays Classical Characteristics of Pathogenic BRCA1 Mutations in Hereditary Breast and Ovarian Cancers, But Still Allows Homozygous Viability.
Arason A et al.
Genes, 2019
Impact of germline and somatic BRCA1/2 mutations: tumor spectrum and detection platforms.
Wu H et al.
Gene Therapy, 2017
BRCA genetic screening in Middle Eastern and North African: mutational spectrum and founder BRCA1 mutation (c.798_799delTT) in North African.
Laraqui A et al.
Disease Markers, 2015
Achieving high-sensitivity for clinical applications using augmented exome sequencing.
Patwardhan A et al.
Genome Medicine, 2015
26269718 (PubMed )
Supplement: 13073_2015_197_MOESM8_ESM.xlsx › Sheet1
BRCA1 and BRCA2 mutations in the ovarian cancer population across race and ethnicity: special reference to Asia.
Shanmughapriya S et al.
Oncology, 2013
A comprehensive focus on global spectrum of BRCA1 and BRCA2 mutations in breast cancer.
Karami F et al.
Biomed Research International, 2013
Analysis of 30 putative BRCA1 splicing mutations in hereditary breast and ovarian cancer families identifies exonic splice site mutations that escape in silico prediction.
Wappenschmidt B et al.
Plos One, 2012
Founder BRCA1/2 mutations in the Europe: implications for hereditary breast-ovarian cancer prevention and control.
Janavičius R
The Epma Journal, 2010
Characterization of BRCA1 and BRCA2 deleterious mutations and variants of unknown clinical significance in unilateral and bilateral breast cancer: the WECARE study.
Borg A et al.
Human Mutation, 2010
The contribution of BRCA1 and BRCA2 to ovarian cancer.
Ramus SJ et al.
Molecular Oncology, 2009
Founder mutations in BRCA1 and BRCA2 genes.
Ferla R et al.
Annals of Oncology : Official Journal of the European Society for Medical Oncology, 2007
Contribution of BRCA1 and BRCA2 germline mutations to the incidence of early-onset breast cancer in Cyprus.
Loizidou M et al.
Clinical Genetics, 2007
Application of embryonic lethal or other obvious phenotypes to characterize the clinical significance of genetic variants found in trans with known deleterious mutations.
Judkins T et al.
Cancer Research, 2005
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