Understanding BRCA2 Function as a Tumor Suppressor Based on Domain-Specific Activities in DNA Damage Responses

Strong functional data for pathogenicity or neutrality classify BRCA2 DNA-binding-domain variants of uncertain significance

(2021) Marcy E. Richardson et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Distinct roles of BRCA2 in replication fork protection in response to hydroxyurea and DNA interstrand cross-links

(2020) Kimberly A. Rickman et al.   GENES & DEVELOPMENT

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

High-throughput functional evaluation of BRCA2 variants of unknown significance

(2020) Masachika Ikegami et al.   Nature Communications

Large scale multifactorial likelihood quantitative analysis of BRCA1 and BRCA2 variants: An ENIGMA resource to support clinical variant classification

(2019) Michael T. Parsons et al.   HUMAN MUTATION

Assessment of the Clinical Relevance of BRCA2 Missense Variants by Functional and Computational Approaches

(2018) Lucia Guidugli et al.   AMERICAN JOURNAL OF HUMAN GENETICS

The functional impact of variants of uncertain significance in BRCA2

(2018) Romy L. S. Mesman et al.   GENETICS IN MEDICINE

Myelodysplastic Syndrome, Acute Myeloid Leukemia, and Cancer Surveillance in Fanconi Anemia

(2018) Sharon A. Savage et al.   HEMATOLOGY-ONCOLOGY CLINICS OF NORTH AMERICA

CRISPR/Cas9 for cancer research and therapy

(2018) Tianzuo Zhan et al.   SEMINARS IN CANCER BIOLOGY

Accurate classification of BRCA1 variants with saturation genome editing

(2018) Gregory M. Findlay et al.   NATURE

PALB2 connects BRCA1 and BRCA2 in the G2/M checkpoint response

(2018) Srilatha Simhadri et al.   ONCOGENE

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

DNA repair-related functional assays for the classification of BRCA1 and BRCA2 variants: a critical review and needs assessment

(2017) Amanda Ewart Toland et al.   JOURNAL OF MEDICAL GENETICS

Epigenetic regulation of DNA repair genes and implications for tumor therapy

(2017) Markus Christmann et al.   MUTATION RESEARCH-REVIEWS IN MUTATION RESEARCH

A mutational signature reveals alterations underlying deficient homologous recombination repair in breast cancer

(2017) Paz Polak et al.   NATURE GENETICS

BRCA2 minor transcript lacking exons 4–7 supports viability in mice and may account for survival of humans with a pathogenic biallelic mutation

(2016) Eswary Thirthagiri et al.   HUMAN MOLECULAR GENETICS

Distinct binding of BRCA2 BRC repeats to RAD51 generates differential DNA damage sensitivity

(2016) Gouri Chatterjee et al.   NUCLEIC ACIDS RESEARCH

CRISPR-Cas: biology, mechanisms and relevance

(2016) Frank Hille et al.   PHILOSOPHICAL TRANSACTIONS OF THE ROYAL SOCIETY B-BIOLOGICAL SCIENCES

A second DNA binding site in human BRCA2 promotes homologous recombination

(2016) Catharina von Nicolai et al.   Nature Communications

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

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

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology

(2015) Sue Richards et al.   GENETICS IN MEDICINE

Major clinical research advances in gynecologic cancer in 2014

(2015) Dong Hoon Suh et al.   Journal of Gynecologic Oncology

Promotion of BRCA2-Dependent Homologous Recombination by DSS1 via RPA Targeting and DNA Mimicry

(2015) Weixing Zhao et al.   MOLECULAR CELL

Cycling with BRCA2 from DNA repair to mitosis

(2014) Hyunsook Lee   EXPERIMENTAL CELL RESEARCH

Risk Assessment, Genetic Counseling, and Genetic Testing for BRCA-Related Cancer in Women: U.S. Preventive Services Task Force Recommendation Statement

(2013) Virginia A. Moyer   ANNALS OF INTERNAL MEDICINE

Compensatory Functions and Interdependency of the DNA-Binding Domain of BRCA2 with the BRCA1-PALB2-BRCA2 Complex

(2013) M. Al Abo et al.   CANCER RESEARCH

Functional Assays for Analysis of Variants of Uncertain Significance inBRCA2

(2013) Lucia Guidugli et al.   HUMAN MUTATION

Signatures of mutational processes in human cancer

(2013) Ludmil B. Alexandrov et al.   NATURE

Breast cancer-associated missense mutants of the PALB2 WD40 domain, which directly binds RAD51C, RAD51 and BRCA2, disrupt DNA repair

(2013) J-Y Park et al.   ONCOGENE

A Classification Model for BRCA2 DNA Binding Domain Missense Variants Based on Homology-Directed Repair Activity

(2012) L. Guidugli et al.   CANCER RESEARCH

Functional evaluation of BRCA2 variants mapping to the PALB2-binding and C-terminal DNA-binding domains using a mouse ES cell-based assay

(2012) Kajal Biswas et al.   HUMAN MOLECULAR GENETICS

A comprehensive functional characterization of BRCA2 variants associated with Fanconi anemia using mouse ES cell-based assay

(2011) K. Biswas et al.   BLOOD

Contribution of epigenetic alteration of BRCA1 and BRCA2 genes in breast carcinomas in Tunisian patients

(2011) R. Ben Gacem et al.   Cancer Epidemiology

Double-Strand Break Repair-Independent Role for BRCA2 in Blocking Stalled Replication Fork Degradation by MRE11

(2011) Katharina Schlacher et al.   CELL

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

(2011) Tobias Menzel et al.   EMBO REPORTS

Risk of cancer other than breast or ovarian in individuals with BRCA1 and BRCA2 mutations

(2011) A. Moran et al.   Familial Cancer

A review of a multifactorial probability-based model for classification of BRCA1 and BRCA2 variants of uncertain significance (VUS)

(2011) Noralane M. Lindor et al.   HUMAN MUTATION

Secondary Somatic Mutations Restoring BRCA1/2 Predict Chemotherapy Resistance in Hereditary Ovarian Carcinomas

(2011) Barbara Norquist et al.   JOURNAL OF CLINICAL ONCOLOGY

Investigation of DNA damage response and apoptotic gene methylation pattern in sporadic breast tumors using high throughput quantitative DNA methylation analysis technology

(2011) Ranjana Pal et al.   Molecular Cancer

Homology-directed Fanconi anemia pathway cross-link repair is dependent on DNA replication

(2011) Koji Nakanishi et al.   NATURE STRUCTURAL & MOLECULAR BIOLOGY

Two classes of BRC repeats in BRCA2 promote RAD51 nucleoprotein filament function by distinct mechanisms

(2011) A. Carreira et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Mutations in 12 genes for inherited ovarian, fallopian tube, and peritoneal carcinoma identified by massively parallel sequencing

(2011) T. Walsh et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

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

(2011) Nicolas Siaud et al.   PLoS Genetics

Purified human BRCA2 stimulates RAD51-mediated recombination

(2010) Ryan B. Jensen et al.   NATURE

Mitotic homologous recombination maintains genomic stability and suppresses tumorigenesis

(2010) Mary Ellen Moynahan et al.   NATURE REVIEWS MOLECULAR CELL BIOLOGY

Human BRCA2 protein promotes RAD51 filament formation on RPA-covered single-stranded DNA

(2010) Jie Liu et al.   NATURE STRUCTURAL & MOLECULAR BIOLOGY

The breast cancer tumor suppressor BRCA2 promotes the specific targeting of RAD51 to single-stranded DNA

(2010) Tina Thorslund et al.   NATURE STRUCTURAL & MOLECULAR BIOLOGY

Cooperation of breast cancer proteins PALB2 and piccolo BRCA2 in stimulating homologous recombination

(2010) Rémi Buisson et al.   NATURE STRUCTURAL & MOLECULAR BIOLOGY

The BRC Repeats of BRCA2 Modulate the DNA-Binding Selectivity of RAD51

(2009) Aura Carreira et al.   CELL

Structural basis for recruitment of BRCA2 by PALB2

(2009) Antony W Oliver et al.   EMBO REPORTS

PALB2 Functionally Connects the Breast Cancer Susceptibility Proteins BRCA1 and BRCA2

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

Two modules in the BRC repeats of BRCA2 mediate structural and functional interactions with the RAD51 recombinase

(2009) Eeson Rajendra et al.   NUCLEIC ACIDS RESEARCH

A Syngeneic Variance Library for Functional Annotation of Human Variation: Application to BRCA2

(2008) T. Hucl et al.   CANCER RESEARCH

Secondary mutations as a mechanism of cisplatin resistance in BRCA2-mutated cancers

(2008) Wataru Sakai et al.   NATURE

Resistance to therapy caused by intragenic deletion in BRCA2

(2008) Stacey L. Edwards et al.   NATURE

Mouse embryonic stem cell–based functional assay to evaluate mutations in BRCA2

(2008) Sergey G Kuznetsov et al.   NATURE MEDICINE