Targeted next generation sequencing identifies functionally deleterious germline mutations in novel genes in early-onset/familial prostate cancer

Validation of a Next-Generation Sequencing Pipeline for the Molecular Diagnosis of Multiple Inherited Cancer Predisposing Syndromes

(2017) Paula Paulo et al.   JOURNAL OF MOLECULAR DIAGNOSTICS

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

Cancer statistics, 2015

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Genetic testing forRAD51Cmutations: in the clinic and community

(2015) V. Sopik et al.   CLINICAL GENETICS

The role of germline mutations in the BRCA1/2 and mismatch repair genes in men ascertained for early-onset and/or familial prostate cancer

(2015) Sofia Maia et al.   Familial Cancer

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

Germline RECQL mutations are associated with breast cancer susceptibility

(2015) Cezary Cybulski et al.   NATURE GENETICS

αIIbβ3 variants defined by next-generation sequencing: Predicting variants likely to cause Glanzmann thrombasthenia

(2015) Lorena Buitrago et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Identification of Two Novel HOXB13 Germline Mutations in Portuguese Prostate Cancer Patients

(2015) Sofia Maia et al.   PLoS One

The Fanconi Anemia DNA Repair Pathway: Structural and Functional Insights into a Complex Disorder

(2014) Helen Walden et al.   Annual Review of Biophysics

Growing recognition of the role for rare missense substitutions in breast cancer susceptibility

(2014) Sean V Tavtigian et al.   Biomarkers in Medicine

The frequency of the BLM p.Q548X (c.1642C>T) mutation in breast cancer patients from Russia is no higher than in the general population

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Frequent germline deleterious mutations in DNA repair genes in familial prostate cancer cases are associated with advanced disease

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High prevalence of mismatch repair deficiency in prostate cancers diagnosed in mismatch repair gene mutation carriers from the colon cancer family registry

(2014) Christophe Rosty et al.   Familial Cancer

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(2014) Sigurdis Haraldsdottir et al.   GENETICS IN MEDICINE

Whole-exome sequencing identifies rare pathogenic variants in new predisposition genes for familial colorectal cancer

(2014) Clara Esteban-Jurado et al.   GENETICS IN MEDICINE

MutationTaster2: mutation prediction for the deep-sequencing age

(2014) Jana Marie Schwarz et al.   NATURE METHODS

EAU Guidelines on Prostate Cancer. Part 1: Screening, Diagnosis, and Local Treatment with Curative Intent—Update 2013

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ACMG recommendations for reporting of incidental findings in clinical exome and genome sequencing

(2013) Robert C. Green et al.   GENETICS IN MEDICINE

G84E mutation in HOXB13 is firmly associated with prostate cancer risk: a meta-analysis

(2013) Hang Huang et al.   TUMOR BIOLOGY

Eleven Candidate Susceptibility Genes for Common Familial Colorectal Cancer

(2013) Alexandra E. Gylfe et al.   PLoS Genetics

Primer-BLAST: A tool to design target-specific primers for polymerase chain reaction

(2012) Jian Ye et al.   BMC BIOINFORMATICS

HOXB13 is a susceptibility gene for prostate cancer: results from the International Consortium for Prostate Cancer Genetics (ICPCG)

(2012) Jianfeng Xu et al.   HUMAN GENETICS

Response to DNA damage of CHEK2 missense mutations in familial breast cancer

(2012) Wendy Roeb et al.   HUMAN MOLECULAR GENETICS

Disease-causing missense mutations in human DNA helicase disorders

(2012) Avvaru N. Suhasini et al.   MUTATION RESEARCH-REVIEWS IN MUTATION RESEARCH

The complexity of prostate cancer: genomic alterations and heterogeneity

(2012) Lara K. Boyd et al.   Nature Reviews Urology

Germline Mutations inHOXB13and Prostate-Cancer Risk

(2012) Charles M. Ewing et al.   NEW ENGLAND JOURNAL OF MEDICINE

A novel Germline mutation inHOXB13is associated with prostate cancer risk in Chinese men

(2012) Xiaoling Lin et al.   PROSTATE

Exome Sequencing Identifies Rare Deleterious Mutations in DNA Repair Genes FANCC and BLM as Potential Breast Cancer Susceptibility Alleles

(2012) Ella R. Thompson et al.   PLoS Genetics

BRCA2 is a moderate penetrance gene contributing to young-onset prostate cancer: implications for genetic testing in prostate cancer patients

(2011) Z Kote-Jarai et al.   BRITISH JOURNAL OF CANCER

LOVD v.2.0: the next generation in gene variant databases

(2011) Ivo F. A. C. Fokkema et al.   HUMAN MUTATION

High prevalence and breast cancer predisposing role of the BLM c.1642 C>T (Q548X) mutation in Russia

(2011) Anna P. Sokolenko et al.   INTERNATIONAL JOURNAL OF CANCER

Mutations in CEP57 cause mosaic variegated aneuploidy syndrome

(2011) Katie Snape et al.   NATURE GENETICS

RAD51 paralogs: Roles in DNA damage signalling, recombinational repair and tumorigenesis

(2011) Natsuko Suwaki et al.   SEMINARS IN CELL & DEVELOPMENTAL BIOLOGY

Prostate cancer in BRCA2 germline mutation carriers is associated with poorer prognosis

(2010) S M Edwards et al.   BRITISH JOURNAL OF CANCER

A map of human genome variation from population-scale sequencing

(2010) Richard M. Durbin et al.   NATURE

Germline mutations in breast and ovarian cancer pedigrees establish RAD51C as a human cancer susceptibility gene

(2010) Alfons Meindl et al.   NATURE GENETICS

A recurrent truncating germline mutation in the BRIP1/FANCJ gene and susceptibility to prostate cancer

(2009) Z Kote-Jarai et al.   BRITISH JOURNAL OF CANCER

Germ-Line Mutations in Mismatch Repair Genes Associated with Prostate Cancer

(2009) E. M. Grindedal et al.   CANCER EPIDEMIOLOGY BIOMARKERS & PREVENTION

Human Splicing Finder: an online bioinformatics tool to predict splicing signals

(2009) François-Olivier Desmet et al.   NUCLEIC ACIDS RESEARCH

Age at Diagnosis and Age at Death in Familial Prostate Cancer

(2009) A. Brandt et al.   ONCOLOGIST

NBS1 Heterozygosity and Cancer Risk

(2008) Alessandra Masi et al.   CURRENT GENOMICS