Tumour lineage shapes BRCA-mediated phenotypes

Pathogenic Germline Variants in 10,389 Adult Cancers

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Genome doubling shapes the evolution and prognosis of advanced cancers

(2018) Craig M. Bielski et al.   NATURE GENETICS

Efficacy of Larotrectinib in TRK Fusion–Positive Cancers in Adults and Children

(2018) Alexander Drilon et al.   NEW ENGLAND JOURNAL OF MEDICINE

Genomic and Molecular Landscape of DNA Damage Repair Deficiency across The Cancer Genome Atlas

(2018) Theo A. Knijnenburg et al.   Cell Reports

Accurate classification of BRCA1 variants with saturation genome editing

(2018) Gregory M. Findlay et al.   NATURE

Maintenance Olaparib in Patients with Newly Diagnosed Advanced Ovarian Cancer

(2018) Kathleen Moore et al.   NEW ENGLAND JOURNAL OF MEDICINE

Mutation Detection in Patients With Advanced Cancer by Universal Sequencing of Cancer-Related Genes in Tumor and Normal DNA vs Guideline-Based Germline Testing

(2017) Diana Mandelker et al.   JAMA-JOURNAL OF THE AMERICAN MEDICAL ASSOCIATION

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

Genomic consequences of aberrant DNA repair mechanisms stratify ovarian cancer histotypes

(2017) Yi Kan Wang et al.   NATURE GENETICS

Mutational landscape of metastatic cancer revealed from prospective clinical sequencing of 10,000 patients

(2017) Ahmet Zehir et al.   NATURE MEDICINE

HRDetect is a predictor of BRCA1 and BRCA2 deficiency based on mutational signatures

(2017) Helen Davies et al.   NATURE MEDICINE

Olaparib for Metastatic Breast Cancer in Patients with a Germline BRCA Mutation

(2017) Mark Robson et al.   NEW ENGLAND JOURNAL OF MEDICINE

Mismatch repair deficiency predicts response of solid tumors to PD-1 blockade

(2017) Dung T. Le et al.   SCIENCE

Combined immune checkpoint blockade as a therapeutic strategy for BRCA1 -mutated breast cancer

(2017) Emma Nolan et al.   Science Translational Medicine

BRCA locus-specific loss of heterozygosity in germline BRCA1 and BRCA2 carriers

(2017) Kara N. Maxwell et al.   Nature Communications

Accelerating Discovery of Functional Mutant Alleles in Cancer

(2017) Matthew T. Chang et al.   Cancer Discovery

DNA Damage and Repair Biomarkers of Immunotherapy Response

(2017) Kent W. Mouw et al.   Cancer Discovery

Prevention and screening in BRCA mutation carriers and other breast/ovarian hereditary cancer syndromes: ESMO Clinical Practice Guidelines for cancer prevention and screening†

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FACETS: allele-specific copy number and clonal heterogeneity analysis tool for high-throughput DNA sequencing

(2016) Ronglai Shen et al.   NUCLEIC ACIDS RESEARCH

VarDict: a novel and versatile variant caller for next-generation sequencing in cancer research

(2016) Zhongwu Lai et al.   NUCLEIC ACIDS RESEARCH

Memorial Sloan Kettering-Integrated Mutation Profiling of Actionable Cancer Targets (MSK-IMPACT)

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Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity

(2015) Matthew T Chang et al.   NATURE BIOTECHNOLOGY

Clock-like mutational processes in human somatic cells

(2015) Ludmil B Alexandrov et al.   NATURE GENETICS

Clonal status of actionable driver events and the timing of mutational processes in cancer evolution

(2015) Nicholas McGranahan et al.   Science Translational Medicine

ABRA: improved coding indel detection via assembly-based realignment

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Cancers associated withBRCA1andBRCA2mutations other than breast and ovarian

(2014) Jacqueline Mersch et al.   CANCER

MSIsensor: microsatellite instability detection using paired tumor-normal sequence data

(2013) Beifang Niu et al.   BIOINFORMATICS

Signatures of mutational processes in human cancer

(2013) Ludmil B. Alexandrov et al.   NATURE

Sensitive detection of somatic point mutations in impure and heterogeneous cancer samples

(2013) Kristian Cibulskis et al.   NATURE BIOTECHNOLOGY

Mutational Analysis Reveals the Origin and Therapy-Driven Evolution of Recurrent Glioma

(2013) B. E. Johnson et al.   SCIENCE

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 framework for variation discovery and genotyping using next-generation DNA sequencing data

(2011) Mark A DePristo et al.   NATURE GENETICS