Functional Assays for Analysis of Variants of Uncertain Significance inBRCA2

The poly(ADP-ribose) polymerase inhibitor niraparib (MK4827) in BRCA mutation carriers and patients with sporadic cancer: a phase 1 dose-escalation trial

(2013) Shahneen K Sandhu et al.   LANCET ONCOLOGY

Effect of the expression of BRCA2 on spontaneous homologous recombination and DNA damage-induced nuclear foci in Saccharomyces cerevisiae

(2013) L. Spugnesi et al.   MUTAGENESIS

A cancer-associated BRCA2 mutation reveals masked nuclear export signals controlling localization

(2013) Anand D Jeyasekharan et al.   NATURE STRUCTURAL & MOLECULAR BIOLOGY

Palb2 synergizes with Trp53 to suppress mammary tumor formation in a model of inherited breast cancer

(2013) C. Bowman-Colin et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

RNA-Guided Human Genome Engineering via Cas9

(2013) P. Mali et al.   SCIENCE

Autophagy Opposes p53-Mediated Tumor Barrier to Facilitate Tumorigenesis in a Model of PALB2-Associated Hereditary Breast Cancer

(2013) Y. Huo et al.   Cancer Discovery

A 24-color metaphase-based radiation assay discriminates heterozygous BRCA2 mutation carriers from controls by chromosomal radiosensitivity

(2012) Alexandra A. Becker et al.   BREAST CANCER RESEARCH AND TREATMENT

A Distinct Replication Fork Protection Pathway Connects Fanconi Anemia Tumor Suppressors to RAD51-BRCA1/2

(2012) Katharina Schlacher et al.   CANCER CELL

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

(2012) L. Guidugli et al.   CANCER RESEARCH

A TALEN Genome-Editing System for Generating Human Stem Cell-Based Disease Models

(2012) Qiurong Ding et al.   Cell Stem Cell

BRCA2 Localization to the Midbody by Filamin A Regulates CEP55 Signaling and Completion of Cytokinesis

(2012) Gourish Mondal et al.   DEVELOPMENTAL CELL

APRIN is a cell cycle specific BRCA2-interacting protein required for genome integrity and a predictor of outcome after chemotherapy in breast cancer

(2012) Rachel Brough et al.   EMBO JOURNAL

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 guide for functional analysis ofBRCA1variants of uncertain significance

(2012) Gaël A. Millot et al.   HUMAN MUTATION

Guidelines for splicing analysis in molecular diagnosis derived from a set of 327 combined in silico/in vitro studies on BRCA1 and BRCA2 variants

(2012) Claude Houdayer et al.   HUMAN MUTATION

The DNA damage response and cancer therapy

(2012) Christopher J. Lord et al.   NATURE

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

(2011) K. Biswas et al.   BLOOD

Effect of the overexpression of BRCA2 unclassified missense variants on spontaneous homologous recombination in human cells

(2011) Cristina Balia et al.   BREAST CANCER RESEARCH AND TREATMENT

Characterization of BRCA1 and BRCA2 splicing variants: a collaborative report by ENIGMA consortium members

(2011) Mads Thomassen et al.   BREAST CANCER RESEARCH AND TREATMENT

BRCA1 RING Function Is Essential for Tumor Suppression but Dispensable for Therapy Resistance

(2011) Rinske Drost et al.   CANCER CELL

A Computational Method to Classify Variants of Uncertain Significance Using Functional Assay Data with Application to BRCA1

(2011) E. S. Iversen et al.   CANCER EPIDEMIOLOGY BIOMARKERS & PREVENTION

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

(2011) Katharina Schlacher et al.   CELL

Classification of missense substitutions in the BRCA genes: A database dedicated to Ex-UVs

(2011) Maxime P. Vallée et al.   HUMAN MUTATION

ENIGMA-Evidence-based network for the interpretation of germline mutant alleles: An international initiative to evaluate risk and clinical significance associated with sequence variation in BRCA1 and BRCA2 genes

(2011) Amanda B. Spurdle et al.   HUMAN MUTATION

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

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

Unraveling the mechanism of BRCA2 in homologous recombination

(2011) William K Holloman   NATURE STRUCTURAL & MOLECULAR BIOLOGY

Description and analysis of genetic variants in French hereditary breast and ovarian cancer families recorded in the UMD-BRCA1/BRCA2 databases

(2011) Sandrine Caputo et al.   NUCLEIC ACIDS RESEARCH

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

BRCA1 Tumor Suppression Depends on BRCT Phosphoprotein Binding, But Not Its E3 Ligase Activity

(2011) R. Shakya et al.   SCIENCE

PALB2/FANCN: Recombining Cancer and Fanconi Anemia

(2010) M. Tischkowitz et al.   CANCER RESEARCH

Detection of splicing aberrations caused by BRCA1 and BRCA2 sequence variants encoding missense substitutions: implications for prediction of pathogenicity

(2010) Logan C. Walker et al.   HUMAN MUTATION

Increased Chromosomal Radiosensitivity in Women Carrying BRCA1/BRCA2 Mutations Assessed With the G2 Assay

(2010) Beroukas Ernestos et al.   INTERNATIONAL JOURNAL OF RADIATION ONCOLOGY BIOLOGY PHYSICS

Loss of heterozygosity atBRCA1/2 loci in hereditary and sporadic ovarian cancers

(2010) I. Brożek et al.   JOURNAL OF APPLIED GENETICS

Oral poly(ADP-ribose) polymerase inhibitor olaparib in patients with BRCA1 or BRCA2 mutations and advanced breast cancer: a proof-of-concept trial

(2010) Andrew Tutt et al.   LANCET

Oral poly(ADP-ribose) polymerase inhibitor olaparib in patients with BRCA1 or BRCA2 mutations and recurrent ovarian cancer: a proof-of-concept trial

(2010) M William Audeh et al.   LANCET

Purified human BRCA2 stimulates RAD51-mediated recombination

(2010) Ryan B. Jensen et al.   NATURE

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

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

(2009) Aura Carreira et al.   CELL

The Carboxyl Terminus of Brca2 Links the Disassembly of Rad51 Complexes to Mitotic Entry

(2009) Nabieh Ayoub et al.   CURRENT BIOLOGY

PALB2 Links BRCA1 and BRCA2 in the DNA-Damage Response

(2009) Feng Zhang et al.   CURRENT BIOLOGY

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

Inhibition of Poly(ADP-Ribose) Polymerase in Tumors fromBRCAMutation Carriers

(2009) Peter C. Fong et al.   NEW ENGLAND JOURNAL OF MEDICINE

PALB2 is an integral component of the BRCA complex required for homologous recombination repair

(2009) S. M. H. Sy et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

The BOADICEA model of genetic susceptibility to breast and ovarian cancers: updates and extensions

(2008) A C Antoniou et al.   BRITISH JOURNAL OF CANCER

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

(2008) T. Hucl et al.   CANCER RESEARCH

Functional Assays for Classification of BRCA2 Variants of Uncertain Significance

(2008) D. J. Farrugia et al.   CANCER RESEARCH

Genome-Wide Loss of Heterozygosity and Uniparental Disomy in BRCA1/2-Associated Ovarian Carcinomas

(2008) C. S. Walsh et al.   CLINICAL CANCER RESEARCH

Selective Inhibition of BRCA2-Deficient Mammary Tumor Cell Growth by AZD2281 and Cisplatin

(2008) B. Evers et al.   CLINICAL CANCER RESEARCH

Classification of rare missense substitutions, using risk surfaces, with genetic- and molecular-epidemiology applications

(2008) Sean V. Tavtigian et al.   HUMAN MUTATION

Genetic evidence and integration of various data sources for classifying uncertain variants into a single model

(2008) David E. Goldgar et al.   HUMAN MUTATION

Sequence variant classification and reporting: recommendations for improving the interpretation of cancer susceptibility genetic test results

(2008) Sharon E. Plon et al.   HUMAN MUTATION

Clinically Applicable Models to CharacterizeBRCA1andBRCA2Variants of Uncertain Significance

(2008) Andrew D. Spearman et al.   JOURNAL OF CLINICAL ONCOLOGY

Clinical Classification ofBRCA1andBRCA2DNA Sequence Variants: The Value of Cytokeratin Profiles and Evolutionary Analysis—A Report From the kConFab Investigators

(2008) Amanda B. Spurdle et al.   JOURNAL OF CLINICAL ONCOLOGY

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

(2008) Sergey G Kuznetsov et al.   NATURE MEDICINE

BRCA1 and BRCA2 Missense Variants of High and Low Clinical Significance Influence Lymphoblastoid Cell Line Post-Irradiation Gene Expression

(2008) Nic Waddell et al.   PLoS Genetics