Variants of uncertain significance in the era of high-throughput genome sequencing: a lesson from breast and ovary cancers

A brief history of human disease genetics

(2020) Melina Claussnitzer et al.   NATURE

Bioinformatics and Computational Tools for Next-Generation Sequencing Analysis in Clinical Genetics

(2020) Rute Pereira et al.   Journal of Clinical Medicine

Patients' perspectives of variants of uncertain significance and strategies for uncertainty management

(2019) Sukh Makhnoon et al.   Journal of Genetic Counseling

Mis‐splicing in breast cancer: identification of pathogenic BRCA2 variants by systematic minigene assays

(2019) Eugenia Fraile‐Bethencourt et al.   JOURNAL OF PATHOLOGY

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

p53 mitotic centrosome localization preserves centrosome integrity and works as sensor for the mitotic surveillance pathway

(2019) Claudia Contadini et al.   Cell Death & Disease

Functional analysis of genetic variants in the high-risk breast cancer susceptibility gene PALB2

(2019) Rick A. C. M. Boonen et al.   Nature Communications

Ataxia–telangiectasia gene (ATM) mutation heterozygosity in breast cancer: a narrative review

(2018) K.J. Jerzak et al.   Current Oncology

The functional impact of variants of uncertain significance in BRCA2

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

Hereditary cancer gene panel test reports: wide heterogeneity suggests need for standardization

(2018) Sukh Makhnoon et al.   GENETICS IN MEDICINE

ClinVar Miner: Demonstrating utility of a Web-based tool for viewing and filtering ClinVar data

(2018) Alex Henrie et al.   HUMAN MUTATION

A Multiplex Homology-Directed DNA Repair Assay Reveals the Impact of More Than 1,000 BRCA1 Missense Substitution Variants on Protein Function

(2018) Lea M. Starita et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Genetic testing and clinical management practices for variants in non-BRCA1/2 breast (and/or ovarian) cancer susceptibility genes: An international survey by the Enigma Clinical Working Group.

(2018) Sarah Nielsen et al.   JOURNAL OF CLINICAL ONCOLOGY

Accurate classification of BRCA1 variants with saturation genome editing

(2018) Gregory M. Findlay et al.   NATURE

Clinical validity assessment of genes frequently tested on hereditary breast and ovarian cancer susceptibility sequencing panels

(2018) Kristy Lee et al.   GENETICS IN MEDICINE

ClinGen Variant Curation Expert Panel experiences and standardized processes for disease and gene-level specification of the ACMG/AMP guidelines for sequence variant interpretation

(2018) Edgar A. Rivera-Muñoz et al.   HUMAN MUTATION

Reclassification of BRCA1 and BRCA2 variants of uncertain significance: a multifactorial analysis of multicentre prospective cohort

(2018) Jee-Soo Lee et al.   JOURNAL OF MEDICAL GENETICS

State-of-the-art strategies for targeting the DNA damage response in cancer

(2018) Patrick G. Pilié et al.   Nature Reviews Clinical Oncology

BRCA Challenge: BRCA Exchange as a global resource for variants in BRCA1 and BRCA2

(2018) Melissa S. Cline et al.   PLoS Genetics

Non-Coding Variants in BRCA1 and BRCA2 Genes: Potential Impact on Breast and Ovarian Cancer Predisposition

(2018) Elizabeth Santana dos Santos et al.   Cancers

Sherloc: a comprehensive refinement of the ACMG–AMP variant classification criteria

(2017) Keith Nykamp et al.   GENETICS IN MEDICINE

A taxonomy of medical uncertainties in clinical genome sequencing

(2017) Paul K.J. Han et al.   GENETICS IN MEDICINE

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

Guidelines for Validation of Next-Generation Sequencing–Based Oncology Panels

(2017) Lawrence J. Jennings et al.   JOURNAL OF MOLECULAR DIAGNOSTICS

Standards and Guidelines for the Interpretation and Reporting of Sequence Variants in Cancer

(2017) Marilyn M. Li et al.   JOURNAL OF MOLECULAR DIAGNOSTICS

Guidance Statement On BRCA1/2 Tumor Testing in Ovarian Cancer Patients

(2017) Ettore Capoluongo et al.   SEMINARS IN ONCOLOGY

Advancements in Next-Generation Sequencing

(2016) Shawn E. Levy et al.   Annual Review of Genomics and Human Genetics

Defining the Clinical Value of a Genomic Diagnosis in the Era of Next-Generation Sequencing

(2016) Natasha T. Strande et al.   Annual Review of Genomics and Human Genetics

Health risks for ataxia-telangiectasia mutated heterozygotes: a systematic review, meta-analysis and evidence-based guideline

(2016) N.J.H. van Os et al.   CLINICAL GENETICS

Classification and Clinical Management of Variants of Uncertain Significance in High Penetrance Cancer Predisposition Genes

(2016) Setareh Moghadasi et al.   HUMAN MUTATION

Conflicting Interpretation of Genetic Variants and Cancer Risk by Commercial Laboratories as Assessed by the Prospective Registry of Multiplex Testing

(2016) Judith Balmaña et al.   JOURNAL OF CLINICAL ONCOLOGY

Detection of ATM germline variants by the p53 mitotic centrosomal localization test in BRCA1/2-negative patients with early-onset breast cancer

(2016) Andrea Prodosmo et al.   JOURNAL OF EXPERIMENTAL & CLINICAL CANCER RESEARCH

Multigene testing of moderate-risk genes: be mindful of the missense

(2016) E L Young et al.   JOURNAL OF MEDICAL GENETICS

The Spectrum of Clinical Utilities in Molecular Pathology Testing Procedures for Inherited Conditions and Cancer

(2016) Loren Joseph et al.   JOURNAL OF MOLECULAR DIAGNOSTICS

ATM Mutations in Cancer: Therapeutic Implications

(2016) M. Choi et al.   MOLECULAR CANCER THERAPEUTICS

Massively Parallel Functional Analysis of BRCA1 RING Domain Variants

(2015) Lea M. Starita et al.   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

Randomized, Double-Blind Phase II Trial With Prospective Classification by ATM Protein Level to Evaluate the Efficacy and Tolerability of Olaparib Plus Paclitaxel in Patients With Recurrent or Metastatic Gastric Cancer

(2015) Yung-Jue Bang et al.   JOURNAL OF CLINICAL ONCOLOGY

ClinGen — The Clinical Genome Resource

(2015) Heidi L. Rehm et al.   NEW ENGLAND JOURNAL OF MEDICINE

Gene-Panel Sequencing and the Prediction of Breast-Cancer Risk

(2015) Douglas F. Easton et al.   NEW ENGLAND JOURNAL OF MEDICINE

Massively Parallel Functional Analysis of BRCA1 RING Domain Variants

(2015) Lea M. Starita et al.   GENETICS

Low ATM protein expression and depletion of p53 correlates with olaparib sensitivity in gastric cancer cell lines

(2014) Eiji Kubota et al.   CELL CYCLE

Guidelines for investigating causality of sequence variants in human disease

(2014) D. G. MacArthur et al.   NATURE

Saturation editing of genomic regions by multiplex homology-directed repair

(2014) Gregory M. Findlay et al.   NATURE

ACMG clinical laboratory standards for next-generation sequencing

(2013) Heidi L. Rehm et al.   GENETICS IN MEDICINE

Functional Assays for Analysis of Variants of Uncertain Significance inBRCA2

(2013) Lucia Guidugli et al.   HUMAN MUTATION

p53 centrosomal localization diagnoses ataxia-telangiectasia homozygotes and heterozygotes

(2013) Andrea Prodosmo et al.   JOURNAL OF CLINICAL INVESTIGATION

ATM-depletion in breast cancer cells confers sensitivity to PARP inhibition

(2013) Maria Gilardini Montani et al.   JOURNAL OF EXPERIMENTAL & CLINICAL CANCER RESEARCH

A glimpse into past, present, and future DNA sequencing

(2013) Marcos Morey et al.   MOLECULAR GENETICS AND METABOLISM

ClinVar: public archive of relationships among sequence variation and human phenotype

(2013) Melissa J. Landrum et al.   NUCLEIC ACIDS RESEARCH

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

(2012) L. Guidugli et al.   CANCER RESEARCH

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

Performance of mutation pathogenicity prediction methods on missense variants

(2011) Janita Thusberg 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

The PARP inhibitor olaparib induces significant killing of ATM-deficient lymphoid tumor cells in vitro and in vivo

(2010) V. J. Weston et al.   BLOOD

ATM Deficiency Sensitizes Mantle Cell Lymphoma Cells to Poly(ADP-Ribose) Polymerase-1 Inhibitors

(2010) C. T. Williamson et al.   MOLECULAR CANCER THERAPEUTICS

Expression of human BRCA1 variants in mouse ES cells allows functional analysis of BRCA1 mutations

(2009) Suhwan Chang et al.   JOURNAL OF CLINICAL INVESTIGATION

Sequencing technologies — the next generation

(2009) Michael L. Metzker   NATURE REVIEWS GENETICS

Functional Assays for Classification of BRCA2 Variants of Uncertain Significance

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

ACMG recommendations for standards for interpretation and reporting of sequence variations: Revisions 2007

(2008) C Sue Richards et al.   GENETICS IN MEDICINE

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

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

Assessment of functional effects of unclassified genetic variants

(2008) Fergus J. Couch et al.   HUMAN MUTATION

Tumor characteristics as an analytic tool for classifying genetic variants of uncertain clinical significance

(2008) Robert M.W. Hofstra et al.   HUMAN MUTATION

Assessing pathogenicity: overview of results from the IARC Unclassified Genetic Variants Working Group

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

In silico analysis of missense substitutions using sequence-alignment based methods

(2008) Sean V. Tavtigian 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

Next-generation DNA sequencing

(2008) Jay Shendure et al.   NATURE BIOTECHNOLOGY

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

(2008) Sergey G Kuznetsov et al.   NATURE MEDICINE