Potentially pathogenic germline CHEK2 c.319+2T>A among multiple early-onset cancer families

Cancer Susceptibility Gene Mutations in Individuals With Colorectal Cancer

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Rare germline alterations in cancer-related genes associated with the risk of multiple primary tumor development

(2017) Rolando A. R. Villacis et al.   JOURNAL OF MOLECULAR MEDICINE-JMM

Clinical applicability and cost of a 46-gene panel for genomic analysis of solid tumours: Retrospective validation and prospective audit in the UK National Health Service

(2017) Angela Hamblin et al.   PLOS MEDICINE

Genetic/Familial High-Risk Assessment: Breast and Ovarian

(2017) Mary B. Daly et al.   Journal of the National Comprehensive Cancer Network

Evaluation of ACMG-Guideline-Based Variant Classification of Cancer Susceptibility and Non-Cancer-Associated Genes in Families Affected by Breast Cancer

(2016) Kara N. Maxwell et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Performance of ACMG-AMP Variant-Interpretation Guidelines among Nine Laboratories in the Clinical Sequencing Exploratory Research Consortium

(2016) Laura M. Amendola et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Implementation of next-generation sequencing for molecular diagnosis of hereditary breast and ovarian cancer highlights its genetic heterogeneity

(2016) Pedro Pinto et al.   BREAST CANCER RESEARCH AND TREATMENT

Recommendations for reporting of secondary findings in clinical exome and genome sequencing, 2016 update (ACMG SF v2.0): a policy statement of the American College of Medical Genetics and Genomics

(2016) Sarah S. Kalia et al.   GENETICS IN MEDICINE

Comparative analysis of BRCA1 and BRCA2 variants of uncertain significance in patients with breast cancer: a multifactorial probability-based model versus ACMG standards and guidelines for interpreting sequence variants

(2016) Kyung Sun Park et al.   GENETICS IN MEDICINE

An openly available online tool for implementing the ACMG/AMP standards and guidelines for the interpretation of sequence variants

(2016) Jeffrey Kleinberger et al.   GENETICS IN MEDICINE

Analysis of protein-coding genetic variation in 60,706 humans

(2016) Monkol Lek et al.   NATURE

Exonic Splicing Mutations Are More Prevalent than Currently Estimated and Can Be Predicted by Using In Silico Tools

(2016) Omar Soukarieh et al.   PLoS Genetics

Breast cancer risk and clinical implications for germline PTEN mutation carriers

(2015) Joanne Ngeow et al.   BREAST CANCER RESEARCH AND TREATMENT

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

Contribution of rare germline copy number variations and common susceptibility loci in Lynch syndrome patients negative for mutations in the mismatch repair genes

(2015) Rolando A.R. Villacis et al.   INTERNATIONAL JOURNAL OF CANCER

Outcomes of retesting BRCA-negative patients using multigene panels.

(2015) Siddhartha Yadav et al.   JOURNAL OF CLINICAL ONCOLOGY

Detecting Germline PTEN Mutations Among At-Risk Patients With Cancer: An Age- and Sex-Specific Cost-Effectiveness Analysis

(2015) Joanne Ngeow et al.   JOURNAL OF CLINICAL ONCOLOGY

A Systematic Comparison of Traditional and Multigene Panel Testing for Hereditary Breast and Ovarian Cancer Genes in More Than 1000 Patients

(2015) Stephen E. Lincoln et al.   JOURNAL OF MOLECULAR DIAGNOSTICS

A global reference for human genetic variation

(2015) Richard A. Gibbs et al.   NATURE

ClinVar: public archive of interpretations of clinically relevant variants

(2015) Melissa J. Landrum et al.   NUCLEIC ACIDS RESEARCH

Balanced splicing at the Tat-specific HIV-1 3′ss A3 is critical for HIV-1 replication

(2015) Steffen Erkelenz et al.   Retrovirology

Protein-truncating variants in moderate-risk breast cancer susceptibility genes: A meta-analysis of high-risk case-control screening studies

(2015) Fatima Aloraifi et al.   Cancer Genetics

A novel deleterious PTEN mutation in a patient with early-onset bilateral breast cancer

(2014) Laura Maria Pradella et al.   BMC CANCER

The clinical utility of genetic testing in breast cancer kindreds: a prospective study in families without a demonstrable BRCA mutation

(2014) Pål Møller et al.   BREAST CANCER RESEARCH AND TREATMENT

Multiple primary cancers as a guide to heritability

(2014) Cezary Cybulski et al.   INTERNATIONAL JOURNAL OF CANCER

Clinical Evaluation of a Multiple-Gene Sequencing Panel for Hereditary Cancer Risk Assessment

(2014) Allison W. Kurian et al.   JOURNAL OF CLINICAL ONCOLOGY

Cowden syndrome: Recognizing and managing a not-so-rare hereditary cancer syndrome

(2014) Jessica Mester et al.   JOURNAL OF SURGICAL ONCOLOGY

MutationTaster2: mutation prediction for the deep-sequencing age

(2014) Jana Marie Schwarz et al.   NATURE METHODS

Breast-Cancer Risk in Families with Mutations in PALB2

(2014) Antonis C. Antoniou et al.   NEW ENGLAND JOURNAL OF MEDICINE

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

(2014) H. Y. Xiong et al.   SCIENCE

ACMG technical standards and guidelines for genetic testing for inherited colorectal cancer (Lynch syndrome, familial adenomatous polyposis and MYH-associated polyposis)

(2013) Madhuri Hegde et al.   GENETICS IN MEDICINE

Functional Analysis of a Large set of BRCA2 exon 7 Variants Highlights the Predictive Value of Hexamer Scores in Detecting Alterations of Exonic Splicing Regulatory Elements

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High cumulative risks of cancer in patients withPTENhamartoma tumour syndrome

(2013) Virginie Bubien et al.   JOURNAL OF MEDICAL GENETICS

Cancer Risks for BRCA1 and BRCA2 Mutation Carriers: Results From Prospective Analysis of EMBRACE

(2013) Nasim Mavaddat et al.   JNCI-Journal of the National Cancer Institute

Application of a 5-tiered scheme for standardized classification of 2,360 unique mismatch repair gene variants in the InSiGHT locus-specific database

(2013) Bryony A Thompson et al.   NATURE GENETICS

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

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

Pfam: the protein families database

(2013) Robert D. Finn et al.   NUCLEIC ACIDS RESEARCH

Germline copy number variations and cancer predisposition

(2012) Ana Cristina Victorino Krepischi et al.   Future Oncology

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

A Clinical Scoring System for Selection of Patients for PTEN Mutation Testing Is Proposed on the Basis of a Prospective Study of 3042 Probands

(2010) Min-Han Tan et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Copy neutral loss of heterozygosity: a novel chromosomal lesion in myeloid malignancies

(2010) C. O'Keefe et al.   BLOOD

The Genome Analysis Toolkit: A MapReduce framework for analyzing next-generation DNA sequencing data

(2010) A. McKenna et al.   GENOME RESEARCH

A method and server for predicting damaging missense mutations

(2010) Ivan A Adzhubei et al.   NATURE METHODS

ANNOVAR: functional annotation of genetic variants from high-throughput sequencing data

(2010) K. Wang et al.   NUCLEIC ACIDS RESEARCH

PTEN hamartoma tumor syndrome: An overview

(2009) Judith A Hobert et al.   GENETICS IN MEDICINE

Predicting the effects of coding non-synonymous variants on protein function using the SIFT algorithm

(2009) Prateek Kumar et al.   Nature Protocols