Analysis of BRCA1 and BRCA2 alternative splicing in predisposition to ovarian cancer

Estimating the proportion of pathogenic variants from breast cancer case‐control data: application to calibration of ACMG/AMP variant classification criteria

(2022) Paul A. James et al.   HUMAN MUTATION

Clinical, splicing, and functional analysis to classify BRCA2 exon 3 variants: Application of a points‐based ACMG/AMP approach

(2022) Mads Thomassen et al.   HUMAN MUTATION

The emerging roles of RNA m6A methylation and demethylation as critical regulators of tumorigenesis, drug sensitivity, and resistance

(2021) Qing Lan et al.   CANCER RESEARCH

Clinical practice guidelines for BRCA1 and BRCA2 genetic testing

(2021) Pascal Pujol et al.   EUROPEAN JOURNAL OF CANCER

The ever‐increasing importance of cancer as a leading cause of premature death worldwide

(2021) Freddie Bray et al.   CANCER

Altered regulation of BRCA1 exon 11 splicing is associated with breast cancer risk in carriers of BRCA1 pathogenic variants

(2021) Gorka Ruiz de Garibay et al.   HUMAN MUTATION

Adaptive homeostasis and the p53 isoform network

(2021) Sunali Mehta et al.   EMBO REPORTS

Cancer of the ovary, fallopian tube, and peritoneum: 2021 update

(2021) Jonathan S. Berek et al.   INTERNATIONAL JOURNAL OF GYNECOLOGY & OBSTETRICS

BRCA1 and BRCA2 whole cDNA analysis in unsolved hereditary breast/ovarian cancer patients

(2021) Gemma Montalban et al.   Cancer Genetics

Skipping nonsense to maintain function: the paradigm of BRCA2 exon 12

(2020) Laëtitia Meulemans et al.   CANCER RESEARCH

Alternative mRNA splicing can attenuate the pathogenicity of presumed loss-of-function variants in BRCA2

(2020) Romy L. S. Mesman et al.   GENETICS IN MEDICINE

BRCA1 and homologous recombination: implications from mouse embryonic development

(2020) Yidan Liu et al.   Cell and Bioscience

Calibration of pathogenicity due to variant-induced leaky splicing defects by using BRCA2 exon 3 as a model system

(2020) Hélène Tubeuf et al.   CANCER RESEARCH

High-Grade Serous Ovarian Cancer: Basic Sciences, Clinical and Therapeutic Standpoints

(2019) Michael-Antony Lisio et al.   INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES

BRCA1—No Matter How You Splice It

(2019) Dan Li et al.   CANCER RESEARCH

The BRCA2 c.68-7T > A variant is not pathogenic: A model for clinical calibration of spliceogenicity

(2018) Mara Colombo et al.   HUMAN MUTATION

Full in-frame exon 3 skipping of brca2 confers high risk of breast and/or ovarian cancer

(2018) Sandrine M. Caputo et al.   Oncotarget

Alternative-splicing defects in cancer: Splicing regulators and their downstream targets, guiding the way to novel cancer therapeutics

(2018) Laura M. Urbanski et al.   Wiley Interdisciplinary Reviews-RNA

Global cancer statistics 2018: GLOBOCAN estimates of incidence and mortality worldwide for 36 cancers in 185 countries

(2018) Freddie Bray et al.   CA-A CANCER JOURNAL FOR CLINICIANS

Screening of BRCA1/2 deep intronic regions by targeted gene sequencing identifies the first germline BRCA1 variant causing pseudoexon activation in a patient with breast/ovarian cancer

(2018) Gemma Montalban et al.   JOURNAL OF MEDICAL GENETICS

Spectrum and Prevalence of Pathogenic Variants in Ovarian Cancer Susceptibility Genes in a Group of 333 Patients

(2018) Magdalena Koczkowska et al.   Cancers

Risks of Breast, Ovarian, and Contralateral Breast Cancer for BRCA1 and BRCA2 Mutation Carriers

(2017) Karoline B. Kuchenbaecker et al.   JAMA-JOURNAL OF THE AMERICAN MEDICAL ASSOCIATION

Rucaparib in relapsed, platinum-sensitive high-grade ovarian carcinoma (ARIEL2 Part 1): an international, multicentre, open-label, phase 2 trial

(2017) Elizabeth M Swisher et al.   LANCET ONCOLOGY

Sensitivity of BRCA1/2 testing in high-risk breast/ovarian/male breast cancer families: little contribution of comprehensive RNA/NGS panel testing

(2016) Helen Byers et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

Combined genetic and splicing analysis of BRCA1 c.[594-2A>C; 641A>G] highlights the relevance of naturally occurring in-frame transcripts for developing disease gene variant classification algorithms

(2016) Miguel de la Hoya et al.   HUMAN MOLECULAR GENETICS

Naturally occurringBRCA2alternative mRNA splicing events in clinically relevant samples

(2016) James D Fackenthal et al.   JOURNAL OF MEDICAL GENETICS

Interaction with PALB2 Is Essential for Maintenance of Genomic Integrity by BRCA2

(2016) Suzanne A. Hartford et al.   PLoS Genetics

Two decades beyond BRCA1/2: Homologous recombination, hereditary cancer risk and a target for ovarian cancer therapy

(2015) Christine S. Walsh   GYNECOLOGIC ONCOLOGY

Characterization of three alternative transcripts of the BRCA1 gene in patients with breast cancer and a family history of breast and/or ovarian cancer who tested negative for pathogenic mutations

(2015) GAETANA GAMBINO et al.   INTERNATIONAL JOURNAL OF MOLECULAR MEDICINE

Epidemiology of Patients with Ovarian Cancer with and Without a BRCA1/2 Mutation

(2015) Elisabete Weiderpass et al.   Molecular Diagnosis & Therapy

Comprehensive annotation of splice junctions supports pervasive alternative splicing at the BRCA1 locus: a report from the ENIGMA consortium

(2014) Mara Colombo et al.   HUMAN MOLECULAR GENETICS

The human splicing code reveals new insights into the genetic determinants of disease

(2014) H. Y. Xiong et al.   SCIENCE

BRCA2 Deep Intronic Mutation Causing Activation of a Cryptic Exon: Opening toward a New Preventive Therapeutic Strategy

(2012) O. Anczukow et al.   CLINICAL CANCER RESEARCH

Analysis of Intron Sequence Features Associated with Transcriptional Regulation in Human Genes

(2012) Huimin Li et al.   PLoS One

STRUCTURE-FUNCTION OF THE TUMOR SUPPRESSOR BRCA1

(2012) Serena L. Clark et al.   Computational and Structural Biotechnology Journal

An entire exon 3 germ-line rearrangement in the BRCA2 gene: pathogenic relevance of exon 3 deletion in breast cancer predisposition

(2011) Danièle Muller et al.   BMC Medical Genetics

A genetic screen identifies BRCA2 and PALB2 as key regulators of G2 checkpoint maintenance

(2011) Tobias Menzel et al.   EMBO REPORTS

Olaparib in patients with recurrent high-grade serous or poorly differentiated ovarian carcinoma or triple-negative breast cancer: a phase 2, multicentre, open-label, non-randomised study

(2011) Karen A Gelmon et al.   LANCET ONCOLOGY

Plasticity of BRCA2 Function in Homologous Recombination: Genetic Interactions of the PALB2 and DNA Binding Domains

(2011) Nicolas Siaud et al.   PLoS Genetics

BRCA2 and Nucleophosmin Coregulate Centrosome Amplification and Form a Complex with the Rho Effector Kinase ROCK2

(2010) H.-F. Wang et al.   CANCER RESEARCH

PALB2 Functionally Connects the Breast Cancer Susceptibility Proteins BRCA1 and BRCA2

(2009) F. Zhang et al.   MOLECULAR CANCER RESEARCH