Related references
Note: Only part of the references are listed.BRCAness, SLFN11, and RB1 loss predict response to topoisomerase I inhibitors in triple-negative breast cancers
Florence Coussy et al.
SCIENCE TRANSLATIONAL MEDICINE (2020)
Carboplatin in BRCA1/2-mutated and triple-negative breast cancer BRCAness subgroups: the TNT Trial
Andrew Tutt et al.
NATURE MEDICINE (2018)
Validating the concept of mutational signatures with isogenic cell models
Xueqing Zou et al.
NATURE COMMUNICATIONS (2018)
Talazoparib in Patients with Advanced Breast Cancer and a Germline BRCA Mutation
Jennifer K. Litton et al.
NEW ENGLAND JOURNAL OF MEDICINE (2018)
Maintenance Olaparib in Patients with Newly Diagnosed Advanced Ovarian Cancer
K. Moore et al.
NEW ENGLAND JOURNAL OF MEDICINE (2018)
A mutational signature reveals alterations underlying deficient homologous recombination repair in breast cancer
Paz Polak et al.
NATURE GENETICS (2017)
HRDetect is a predictor of BRCA1 and BRCA2 deficiency based on mutational signatures
Helen Davies et al.
NATURE MEDICINE (2017)
Olaparib for Metastatic Breast Cancer in Patients with a Germline BRCA Mutation
Mark Robson et al.
NEW ENGLAND JOURNAL OF MEDICINE (2017)
Pan-cancer analysis of bi-allelic alterations in homologous recombination DNA repair genes
Nadeem Riaz et al.
NATURE COMMUNICATIONS (2017)
Classifying cancer genome aberrations by their mutually exclusive effects on transcription
Jonathan B. Dayton et al.
BMC MEDICAL GENOMICS (2017)
The BRCA1ness signature is associated significantly with response to PARP inhibitor treatment versus control in the I-SPY 2 randomized neoadjuvant setting
Tesa M. Severson et al.
BREAST CANCER RESEARCH (2017)
ClinVar: public archive of interpretations of clinically relevant variants
Melissa J. Landrum et al.
NUCLEIC ACIDS RESEARCH (2016)
Parametric analysis of RNA-seq expression data
Tomokazu Konishi
GENES TO CELLS (2016)
Improving performance of multigene panels for genomic analysis of cancer predisposition
Brian H. Shirts et al.
GENETICS IN MEDICINE (2016)
Analysis of protein-coding genetic variation in 60,706 humans
Monkol Lek et al.
NATURE (2016)
Expression and methylation patterns partition luminal-A breast tumors into distinct prognostic subgroups
Dvir Netanely et al.
BREAST CANCER RESEARCH (2016)
Sambamba: fast processing of NGS alignment formats
Artem Tarasov et al.
BIOINFORMATICS (2015)
Alternative preprocessing of RNA-Sequencing data in The Cancer Genome Atlas leads to improved analysis results
Mumtahena Rahman et al.
BIOINFORMATICS (2015)
Gene-expression patterns in peripheral blood classify familial breast cancer susceptibility
Stephen R. Piccolo et al.
BMC MEDICAL GENOMICS (2015)
Whole genomes redefine the mutational landscape of pancreatic cancer
Nicola Waddell et al.
NATURE (2015)
Orchestrating high-throughput genomic analysis with Bioconductor
Wolfgang Huber et al.
NATURE METHODS (2015)
Patterns and functional implications of rare germline variants across 12 cancer types
Charles Lu et al.
NATURE COMMUNICATIONS (2015)
The UCSC Cancer Genomics Browser: update 2015
Mary Goldman et al.
NUCLEIC ACIDS RESEARCH (2015)
Validation and Implementation of Targeted Capture and Sequencing for the Detection of Actionable Mutation, Copy Number Variation, and Gene Rearrangement in Clinical Cancer Specimens
Colin C. Pritchard et al.
JOURNAL OF MOLECULAR DIAGNOSTICS (2014)
Identification and Validation of an Anthracycline/Cyclophosphamide-Based Chemotherapy Response Assay in Breast Cancer
Jude M. Mulligan et al.
JNCI-JOURNAL OF THE NATIONAL CANCER INSTITUTE (2014)
Signatures of mutational processes in human cancer
Ludmil B. Alexandrov et al.
NATURE (2013)
Sensitive detection of somatic point mutations in impure and heterogeneous cancer samples
Kristian Cibulskis et al.
NATURE BIOTECHNOLOGY (2013)
Additional annotation enhances potential for biologically-relevant analysis of the Illumina Infinium HumanMethylation450 BeadChip array
E. Magda Price et al.
EPIGENETICS & CHROMATIN (2013)
GEMINI: Integrative Exploration of Genetic Variation and Genome Annotations
Umadevi Paila et al.
PLOS COMPUTATIONAL BIOLOGY (2013)
Mutational Processes Molding the Genomes of 21 Breast Cancers
Serena Nik-Zainal et al.
CELL (2012)
A program for annotating and predicting the effects of single nucleotide polymorphisms, SnpEff: SNPs in the genome of Drosophila melanogaster strain w1118; iso-2; iso-3
Pablo Cingolani et al.
FLY (2012)
GENCODE: The reference human genome annotation for The ENCODE Project
Jennifer Harrow et al.
GENOME RESEARCH (2012)
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
Amanda B. Spurdle et al.
HUMAN MUTATION (2012)
Comprehensive molecular portraits of human breast tumours
Daniel C. Koboldt et al.
NATURE (2012)
The DNA damage response and cancer therapy
Christopher J. Lord et al.
NATURE (2012)
Characteristics of Triple-Negative Breast Cancer in Patients With a BRCA1 Mutation: Results From a Population-Based Study of Young Women
Eunjung Lee et al.
JOURNAL OF CLINICAL ONCOLOGY (2011)
Frequent promoter hypermethylation of BRCA2, CDH13, MSH6, PAX5, PAX6 and WT1 in ductal carcinoma in situ and invasive breast cancer
Cathy B. Moelans et al.
JOURNAL OF PATHOLOGY (2011)
GISTIC2.0 facilitates sensitive and confident localization of the targets of focal somatic copy-number alteration in human cancers
Craig H. Mermel et al.
GENOME BIOLOGY (2011)
BEDTools: a flexible suite of utilities for comparing genomic features
Aaron R. Quinlan et al.
BIOINFORMATICS (2010)
BRCA1 and BRCA2: breast/ovarian cancer susceptibility gene products and participants in DNA double-strand break repair
Peter J. O'Donovan et al.
CARCINOGENESIS (2010)
A Comparison of PAM50 Intrinsic Subtyping with Immunohistochemistry and Clinical Prognostic Factors in Tamoxifen-Treated Estrogen Receptor-Positive Breast Cancer
Torsten O. Nielsen et al.
CLINICAL CANCER RESEARCH (2010)
Gene Expression Profile of BRCAness That Correlates With Responsiveness to Chemotherapy and With Outcome in Patients With Epithelial Ovarian Cancer
Panagiotis A. Konstantinopoulos et al.
JOURNAL OF CLINICAL ONCOLOGY (2010)
Oral poly(ADP-ribose) polymerase inhibitor olaparib in patients with BRCA1 or BRCA2 mutations and advanced breast cancer: a proof-of-concept trial
Andrew Tutt et al.
LANCET (2010)
Allele-specific copy number analysis of tumors
Peter Van Loo et al.
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA (2010)
Detection of inherited mutations for breast and ovarian cancer using genomic capture and massively parallel sequencing
Tom Walsh et al.
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA (2010)
Fast and accurate short read alignment with Burrows-Wheeler transform
Heng Li et al.
BIOINFORMATICS (2009)
Supervised Risk Predictor of Breast Cancer Based on Intrinsic Subtypes
Joel S. Parker et al.
JOURNAL OF CLINICAL ONCOLOGY (2009)
Predicting the effects of coding non-synonymous variants on protein function using the SIFT algorithm
Prateek Kumar et al.
NATURE PROTOCOLS (2009)
Inhibition of Poly(ADP-Ribose) Polymerase in Tumors from BRCA Mutation Carriers.
Peter C. Fong et al.
NEW ENGLAND JOURNAL OF MEDICINE (2009)
Human Splicing Finder: an online bioinformatics tool to predict splicing signals
Francois-Olivier Desmet et al.
NUCLEIC ACIDS RESEARCH (2009)
Assessing Statistical Significance in Microarray Experiments Using the Distance Between Microarrays
Douglas Hayden et al.
PLOS ONE (2009)
Homologous recombination in DNA repair and DNA damage tolerance
Xuan Li et al.
CELL RESEARCH (2008)
Reduction of E-cadherin expression is associated with non-lobular breast carcinomas of basal-like and triple negative phenotype
B. Mahler-Araujo et al.
JOURNAL OF CLINICAL PATHOLOGY (2008)
The emerging landscape of breast cancer susceptibility
Michael R. Stratton et al.
NATURE GENETICS (2008)
Prevalence of pathogenic BRCA1 mutation carriers in 5 US racial/ethnic groups
Esther M. John et al.
JAMA-JOURNAL OF THE AMERICAN MEDICAL ASSOCIATION (2007)
The genomic landscapes of human breast and colorectal cancers
Laura D. Wood et al.
SCIENCE (2007)
PennCNV: An integrated hidden Markov model designed for high-resolution copy number variation detection in whole-genome SNP genotyping data
Kai Wang et al.
GENOME RESEARCH (2007)
NCI Thesaurus: A semantic model integrating cancer-related clinical and molecular information
Nicholas Sioutos et al.
JOURNAL OF BIOMEDICAL INFORMATICS (2007)
Prevalence and predictors of BRCA1 and BRCA2 mutations in a population-based study of breast cancer in white and black American women ages 35 to 64 years
Kathleen E. Malone et al.
CANCER RESEARCH (2006)
BRCA1: cell cycle checkpoint, genetic instability, DNA damage response and cancer evolution
CX Deng
NUCLEIC ACIDS RESEARCH (2006)
An expression signature for p53 status in human breast cancer predicts mutation status, transcriptional effects, and patient survival
LD Miller et al.
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA (2005)
Distribution and intensity of constraint in mammalian genomic sequence
GM Cooper et al.
GENOME RESEARCH (2005)
Large genomic rearrangements of both BRCA2 and BRCA1 are a feature of the inherited breast/ovarian cancer phenotype in selected families -: art. no. e31
AM Woodward et al.
JOURNAL OF MEDICAL GENETICS (2005)
The prognostic implication of the basal-like (cyclin Ehigh/p27low/p53+/glomeruloid-microvascular-proliferation+) phenotype of BRCA1-related breast cancer
WD Foulkes et al.
CANCER RESEARCH (2004)
RESCUE-ESE identifies candidate exonic splicing enhancers in vertebrate exons
WG Fairbrother et al.
NUCLEIC ACIDS RESEARCH (2004)
Maximum entropy modeling of short sequence motifs with applications to RNA splicing signals
G Yeo et al.
JOURNAL OF COMPUTATIONAL BIOLOGY (2004)
Hallmarks of 'BRCAness' in sporadic cancers
N Turner et al.
NATURE REVIEWS CANCER (2004)
Germline BRCA1 mutations and a basal epithelial phenotype in breast cancer
WD Foulkes et al.
JOURNAL OF THE NATIONAL CANCER INSTITUTE (2003)
Repeated observation of breast tumor subtypes in independent gene expression data sets
T Sorlie et al.
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA (2003)
Gene expression patterns of breast carcinomas distinguish tumor subclasses with clinical implications
T Sorlie et al.
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA (2001)
Mutation in Brca2 stimulates error-prone homology-directed repair of DNA double-strand breaks occurring between repeated sequences
A Tutt et al.
EMBO JOURNAL (2001)
Deficiency of human BRCA2 leads to impaired homologous recombination but maintains normal nonhomologous end joining
F Xia et al.
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA (2001)
Gene-expression profiles in hereditary breast cancer.
I Hedenfalk et al.
NEW ENGLAND JOURNAL OF MEDICINE (2001)
BRCA2 is required for homology-directed repair of chromosomal breaks
ME Moynahan et al.
MOLECULAR CELL (2001)
Molecular portraits of human breast tumours
CM Perou et al.
NATURE (2000)
Promoter hypermethylation and BRCA1 inactivation in sporadic breast and ovarian tumors
M Esteller et al.
JNCI-JOURNAL OF THE NATIONAL CANCER INSTITUTE (2000)
Methylation of the BRCA1 promoter is associated with decreased BRCA1 mRNA levels in clinical breast cancer specimens
JC Rice et al.
CARCINOGENESIS (2000)