Germline and somatic mutations in homologous recombination genes predict platinum response and survival in ovarian, fallopian tube, and peritoneal carcinomas.

PubWeight™: 3.25‹?› | Rank: Top 1%

🔗 View Article (PMC 3944197)

Published in Clin Cancer Res on November 15, 2013

Authors

Kathryn P Pennington1, Tom Walsh, Maria I Harrell, Ming K Lee, Christopher C Pennil, Mara H Rendi, Anne Thornton, Barbara M Norquist, Silvia Casadei, Alexander S Nord, Kathy J Agnew, Colin C Pritchard, Sheena Scroggins, Rochelle L Garcia, Mary-Claire King, Elizabeth M Swisher

Author Affiliations

1: Authors' Affiliations: Division of Gynecologic Oncology; Division of Medical Genetics; Departments of Pathology and Laboratory Medicine, University of Washington Medical Center, Seattle, Washington.

Articles citing this

Inherited Mutations in Women With Ovarian Carcinoma. JAMA Oncol (2016) 1.76

Two decades after BRCA: setting paradigms in personalized cancer care and prevention. Science (2014) 1.74

Homologous recombination and human health: the roles of BRCA1, BRCA2, and associated proteins. Cold Spring Harb Perspect Biol (2015) 1.73

Rethinking ovarian cancer II: reducing mortality from high-grade serous ovarian cancer. Nat Rev Cancer (2015) 1.53

Poly (ADP-ribose) polymerase inhibitors: recent advances and future development. J Clin Oncol (2015) 1.41

BRCAness revisited. Nat Rev Cancer (2016) 1.38

A phase II evaluation of the potent, highly selective PARP inhibitor veliparib in the treatment of persistent or recurrent epithelial ovarian, fallopian tube, or primary peritoneal cancer in patients who carry a germline BRCA1 or BRCA2 mutation - An NRG Oncology/Gynecologic Oncology Group study. Gynecol Oncol (2015) 1.25

Prevalence of mutations in a panel of breast cancer susceptibility genes in BRCA1/2-negative patients with early-onset breast cancer. Genet Med (2014) 1.10

DNA repair mutations and outcomes in ovarian cancer--letter. Clin Cancer Res (2015) 1.08

Homologous Recombination Deficiency: Exploiting the Fundamental Vulnerability of Ovarian Cancer. Cancer Discov (2015) 1.06

Germline mutation in BRCA1 or BRCA2 and ten-year survival for women diagnosed with epithelial ovarian cancer. Clin Cancer Res (2014) 1.01

PALB2: the hub of a network of tumor suppressors involved in DNA damage responses. Biochim Biophys Acta (2014) 1.01

Contribution of Germline Mutations in the RAD51B, RAD51C, and RAD51D Genes to Ovarian Cancer in the Population. J Clin Oncol (2015) 1.01

Genomic analyses of gynaecologic carcinosarcomas reveal frequent mutations in chromatin remodelling genes. Nat Commun (2014) 1.00

New perspectives on targeted therapy in ovarian cancer. Int J Womens Health (2015) 0.98

Hereditary breast and ovarian cancer: new genes in confined pathways. Nat Rev Cancer (2016) 0.94

Initial testing (stage 1) of the PARP inhibitor BMN 673 by the pediatric preclinical testing program: PALB2 mutation predicts exceptional in vivo response to BMN 673. Pediatr Blood Cancer (2014) 0.90

BRCA somatic and germline mutation detection in paraffin embedded ovarian cancers by next-generation sequencing. Oncotarget (2016) 0.90

Major clinical research advances in gynecologic cancer in 2014. J Gynecol Oncol (2015) 0.90

Somatic Mosaic Mutations in PPM1D and TP53 in the Blood of Women With Ovarian Carcinoma. JAMA Oncol (2016) 0.86

DNA repair targeted therapy: The past or future of cancer treatment? Pharmacol Ther (2016) 0.84

Analysis of large mutations in BARD1 in patients with breast and/or ovarian cancer: the Polish population as an example. Sci Rep (2015) 0.84

Aurora A kinase regulates non-homologous end-joining and poly(ADP-ribose) polymerase function in ovarian carcinoma cells. Oncotarget (2017) 0.83

Pharmacologic inhibition of ATR and ATM offers clinically important distinctions to enhancing platinum or radiation response in ovarian, endometrial, and cervical cancer cells. Gynecol Oncol (2015) 0.83

Defining actionable mutations for oncology therapeutic development. Nat Rev Cancer (2016) 0.82

An ex vivo assay of XRT-induced Rad51 foci formation predicts response to PARP-inhibition in ovarian cancer. Gynecol Oncol (2014) 0.81

Role of Biomarkers in the Development of PARP Inhibitors. Biomark Cancer (2016) 0.80

Benchmarking of Whole Exome Sequencing and Ad Hoc Designed Panels for Genetic Testing of Hereditary Cancer. Sci Rep (2017) 0.79

Germline and somatic mutations in homologous recombination genes among Chinese ovarian cancer patients detected using next-generation sequencing. J Gynecol Oncol (2017) 0.79

High-grade serous ovarian cancer: the clone wars. Arch Gynecol Obstet (2017) 0.78

Genomic/Epigenomic Alterations in Ovarian Carcinoma: Translational Insight into Clinical Practice. J Cancer (2016) 0.78

The biological effects and clinical implications of BRCA mutations: where do we go from here? Eur J Hum Genet (2016) 0.78

Olaparib in the management of ovarian cancer. Pharmgenomics Pers Med (2015) 0.78

Prevalence of Germline Mutations in Genes Engaged in DNA Damage Repair by Homologous Recombination in Patients with Triple-Negative and Hereditary Non-Triple-Negative Breast Cancers. PLoS One (2015) 0.78

UK BRCA mutation testing in patients with ovarian cancer. Br J Cancer (2015) 0.78

Genetic and molecular changes in ovarian cancer. Cancer Biol Med (2016) 0.78

Homologous recombination deficiency (HRD) testing in ovarian cancer clinical practice: a review of the literature. Gynecol Oncol Res Pract (2017) 0.77

Risk reducing salpingectomy and delayed oophorectomy in high risk women: views of cancer geneticists, genetic counsellors and gynaecological oncologists in the UK. Fam Cancer (2015) 0.77

When Genome Maintenance Goes Badly Awry. Mol Cell (2016) 0.77

A phase I trial of pegylated liposomal doxorubicin (PLD), carboplatin, bevacizumab and veliparib in recurrent, platinum-sensitive ovarian, primary peritoneal, and fallopian tube cancer: An NRG Oncology/Gynecologic Oncology Group study. Gynecol Oncol (2015) 0.77

Characterization of a novel germline PALB2 duplication in a hereditary breast and ovarian cancer family. Breast Cancer Res Treat (2016) 0.77

Rational selection of biomarker driven therapies for gynecologic cancers: The more we know, the more we know we don't know. Gynecol Oncol (2016) 0.77

Modeling the Dynamics of High-Grade Serous Ovarian Cancer Progression for Transvaginal Ultrasound-Based Screening and Early Detection. PLoS One (2016) 0.77

Bi-allelic alterations in DNA repair genes underpin homologous recombination DNA repair defects in breast cancer. J Pathol (2017) 0.77

Germline Mutations in Triple-Negative Breast Cancer. Breast Care (Basel) (2017) 0.76

PARP inhibitors in ovarian cancer: evidence, experience and clinical potential. Ther Adv Med Oncol (2017) 0.76

Paclitaxel is necessary for improved survival in epithelial ovarian cancers with homologous recombination gene mutations. Oncotarget (2016) 0.76

Compromised BRCA1-PALB2 interaction is associated with breast cancer risk. Oncogene (2017) 0.76

ABRAXAS (FAM175A) and Breast Cancer Susceptibility: No Evidence of Association in the Breast Cancer Family Registry. PLoS One (2016) 0.76

Precision medicine for advanced prostate cancer. Curr Opin Urol (2016) 0.76

A Phase 2, Single Arm Study of Iniparib in Patients With BRCA1 or BRCA2 Associated Advanced Epithelial Ovarian, Fallopian Tube, or Primary Peritoneal Cancer. Int J Gynecol Cancer (2016) 0.76

Veliparib Alone or in Combination with Mitomycin C in Patients with Solid Tumors With Functional Deficiency in Homologous Recombination Repair. J Natl Cancer Inst (2016) 0.76

Ovarian cancer patients at high risk of BRCA mutation: the constitutional genetic characterization does not change prognosis. Fam Cancer (2016) 0.76

Morphologic correlates of molecular alterations in extrauterine Müllerian carcinomas. Mod Pathol (2016) 0.76

Frequency of germline PALB2 mutations among women with epithelial ovarian cancer. Fam Cancer (2017) 0.76

Finding all BRCA pathogenic mutation carriers: best practice models. Eur J Hum Genet (2016) 0.75

Cataloging antineoplastic agents according to their effectiveness against platinum-resistant and platinum-sensitive ovarian carcinoma cell lines. J Transl Sci (2016) 0.75

Role and clinical application of next-generation sequencing (NGS) for ovarian cancer. J Gynecol Oncol (2017) 0.75

Molecular staging of gynecological cancer: What is the future? Best Pract Res Clin Obstet Gynaecol (2015) 0.75

Molecular Characterization of Epithelial Ovarian Cancer: Implications for Diagnosis and Treatment. Int J Mol Sci (2016) 0.75

TumorNext: A comprehensive tumor profiling assay that incorporates high resolution copy number analysis and germline status to improve testing accuracy. Oncotarget (2016) 0.75

Prognostic significance of BRCA mutations in ovarian cancer: an updated systematic review with meta-analysis. Oncotarget (2016) 0.75

New perspective on maintenance therapies for platinum- sensitive recurrent ovarian cancer in women with germline and somatic mutations in BRCA1 and BRCA2 genes. Facts Views Vis Obgyn (2016) 0.75

Conventional chemotherapy and oncogenic pathway targeting in ovarian carcinosarcoma using a patient-derived tumorgraft. PLoS One (2015) 0.75

Mathematical models of breast and ovarian cancers. Wiley Interdiscip Rev Syst Biol Med (2016) 0.75

Prevalence and clinical significance of BRCA1/2 germline and somatic mutations in Taiwanese patients with ovarian cancer. Oncotarget (2016) 0.75

In vivo anti-tumor activity of the PARP inhibitor niraparib in homologous recombination deficient and proficient ovarian carcinoma. Gynecol Oncol (2016) 0.75

Specific killing of DNA damage-response deficient cells with inhibitors of poly(ADP-ribose) glycohydrolase. DNA Repair (Amst) (2017) 0.75

DNA repair mutations and outcomes in ovarian cancer--response. Clin Cancer Res (2015) 0.75

Lack of MRE11-RAD50-NBS1 (MRN) complex detection occurs frequently in low-grade epithelial ovarian cancer. BMC Cancer (2017) 0.75

Reanalysis of BRCA1/2 negative high risk ovarian cancer patients reveals novel germline risk loci and insights into missing heritability. PLoS One (2017) 0.75

Exceptional Response to Systemic Therapy in Advanced Metastatic Gastric Cancer: A Case Report. Cureus (2016) 0.75

Prevalence and Prognostic Role of BRCA1/2 Variants in Unselected Chinese Breast Cancer Patients. PLoS One (2016) 0.75

Ovarian Cancer and BRCA1/2 Testing: Opportunities to Improve Clinical Care and Disease Prevention. Front Oncol (2016) 0.75

Rucaparib: the past, present, and future of a newly approved PARP inhibitor for ovarian cancer. Onco Targets Ther (2017) 0.75

Recent advances in targeting DNA repair pathways for the treatment of ovarian cancer and their clinical relevance. Int J Clin Oncol (2017) 0.75

Pan-cancer analysis of bi-allelic alterations in homologous recombination DNA repair genes. Nat Commun (2017) 0.75

Low Recombination Proficiency Score (RPS) predicts heightened sensitivity to DNA-damaging chemotherapy in breast cancer. Clin Cancer Res (2017) 0.75

The Role of PALB2 in the DNA Damage Response and Cancer Predisposition. Int J Mol Sci (2017) 0.75

Secondary Somatic Mutations Restoring RAD51C and RAD51D Associated with Acquired Resistance to the PARP Inhibitor Rucaparib in High-grade Ovarian Carcinoma. Cancer Discov (2017) 0.75

Articles cited by this

Integrated genomic analyses of ovarian carcinoma. Nature (2011) 47.72

Oral poly(ADP-ribose) polymerase inhibitor olaparib in patients with BRCA1 or BRCA2 mutations and recurrent ovarian cancer: a proof-of-concept trial. Lancet (2010) 8.41

Association of BRCA1 and BRCA2 mutations with survival, chemotherapy sensitivity, and gene mutator phenotype in patients with ovarian cancer. JAMA (2011) 6.81

Essential role for nuclear PTEN in maintaining chromosomal integrity. Cell (2007) 6.52

Olaparib in patients with recurrent high-grade serous or poorly differentiated ovarian carcinoma or triple-negative breast cancer: a phase 2, multicentre, open-label, non-randomised study. Lancet Oncol (2011) 6.34

Deficiency in the repair of DNA damage by homologous recombination and sensitivity to poly(ADP-ribose) polymerase inhibition. Cancer Res (2006) 6.28

Secondary mutations as a mechanism of cisplatin resistance in BRCA2-mutated cancers. Nature (2008) 5.98

Resistance to therapy caused by intragenic deletion in BRCA2. Nature (2008) 5.85

Detection of inherited mutations for breast and ovarian cancer using genomic capture and massively parallel sequencing. Proc Natl Acad Sci U S A (2010) 5.60

Germline mutations in breast and ovarian cancer pedigrees establish RAD51C as a human cancer susceptibility gene. Nat Genet (2010) 5.48

EMSY links the BRCA2 pathway to sporadic breast and ovarian cancer. Cell (2003) 4.33

Disruption of the Fanconi anemia-BRCA pathway in cisplatin-sensitive ovarian tumors. Nat Med (2003) 4.04

Mutations in 12 genes for inherited ovarian, fallopian tube, and peritoneal carcinoma identified by massively parallel sequencing. Proc Natl Acad Sci U S A (2011) 3.99

BRCA mutation frequency and patterns of treatment response in BRCA mutation-positive women with ovarian cancer: a report from the Australian Ovarian Cancer Study Group. J Clin Oncol (2012) 3.86

Association between BRCA1 and BRCA2 mutations and survival in women with invasive epithelial ovarian cancer. JAMA (2012) 3.85

Effect of BRCA1/2 mutations on long-term survival of patients with invasive ovarian cancer: the national Israeli study of ovarian cancer. J Clin Oncol (2008) 3.46

Germline mutations in RAD51D confer susceptibility to ovarian cancer. Nat Genet (2011) 3.25

"BRCAness" syndrome in ovarian cancer: a case-control study describing the clinical features and outcome of patients with epithelial ovarian cancer associated with BRCA1 and BRCA2 mutations. J Clin Oncol (2008) 3.25

Mutations in BRIP1 confer high risk of ovarian cancer. Nat Genet (2011) 3.06

Secondary BRCA1 mutations in BRCA1-mutated ovarian carcinomas with platinum resistance. Cancer Res (2008) 3.05

Secondary somatic mutations restoring BRCA1/2 predict chemotherapy resistance in hereditary ovarian carcinomas. J Clin Oncol (2011) 2.33

Cell cycle checkpoint defects contribute to genomic instability in PTEN deficient cells independent of DNA DSB repair. Cell Cycle (2009) 2.31

Validation and implementation of targeted capture and sequencing for the detection of actionable mutation, copy number variation, and gene rearrangement in clinical cancer specimens. J Mol Diagn (2013) 2.20

Accurate and exact CNV identification from targeted high-throughput sequence data. BMC Genomics (2011) 2.20

Functional restoration of BRCA2 protein by secondary BRCA2 mutations in BRCA2-mutated ovarian carcinoma. Cancer Res (2009) 2.04

Amplification of 11q13 in ovarian carcinoma. Genes Chromosomes Cancer (2008) 2.01

A polymorphic stop codon in BRCA2. Nat Genet (1996) 1.95

Germline BRCA1 and BRCA2 mutations in ovarian cancer: utility of a histology-based referral strategy. Obstet Gynecol (2012) 1.86

PTEN loss compromises homologous recombination repair in astrocytes: implications for glioblastoma therapy with temozolomide or poly(ADP-ribose) polymerase inhibitors. Cancer Res (2010) 1.84

PTEN deficiency in endometrioid endometrial adenocarcinomas predicts sensitivity to PARP inhibitors. Sci Transl Med (2010) 1.64

Chemosensitivity and outcome of BRCA1- and BRCA2-associated ovarian cancer patients after first-line chemotherapy compared with sporadic ovarian cancer patients. Ann Oncol (2011) 1.54

PTEN deletion in prostate cancer cells does not associate with loss of RAD51 function: implications for radiotherapy and chemotherapy. Clin Cancer Res (2011) 1.46

Methylation and protein expression of DNA repair genes: association with chemotherapy exposure and survival in sporadic ovarian and peritoneal carcinomas. Mol Cancer (2009) 1.12

Loss of function germline mutations in RAD51D in women with ovarian carcinoma. Gynecol Oncol (2012) 1.06

Articles by these authors

Strong association of de novo copy number mutations with autism. Science (2007) 27.84

Rare structural variants disrupt multiple genes in neurodevelopmental pathways in schizophrenia. Science (2008) 20.68

Recurrent rearrangements of chromosome 1q21.1 and variable pediatric phenotypes. N Engl J Med (2008) 10.88

Genetic heterogeneity in human disease. Cell (2010) 10.67

Argonaute2 complexes carry a population of circulating microRNAs independent of vesicles in human plasma. Proc Natl Acad Sci U S A (2011) 10.56

Inhibition of respiration by nitric oxide induces a Mycobacterium tuberculosis dormancy program. J Exp Med (2003) 7.99

Schizophrenia: a common disease caused by multiple rare alleles. Br J Psychiatry (2007) 7.00

A recurrent 16p12.1 microdeletion supports a two-hit model for severe developmental delay. Nat Genet (2010) 6.62

Microduplications of 16p11.2 are associated with schizophrenia. Nat Genet (2009) 6.13

Secondary mutations as a mechanism of cisplatin resistance in BRCA2-mutated cancers. Nature (2008) 5.98

Rv3133c/dosR is a transcription factor that mediates the hypoxic response of Mycobacterium tuberculosis. Mol Microbiol (2003) 5.68

Detection of inherited mutations for breast and ovarian cancer using genomic capture and massively parallel sequencing. Proc Natl Acad Sci U S A (2010) 5.60

Spectrum of mutations in BRCA1, BRCA2, CHEK2, and TP53 in families at high risk of breast cancer. JAMA (2006) 5.51

Breast-cancer risk in families with mutations in PALB2. N Engl J Med (2014) 4.97

Whole exome sequencing and homozygosity mapping identify mutation in the cell polarity protein GPSM2 as the cause of nonsyndromic hearing loss DFNB82. Am J Hum Genet (2010) 4.95

Mutant adenosine deaminase 2 in a polyarteritis nodosa vasculopathy. N Engl J Med (2014) 4.70

Actionable, pathogenic incidental findings in 1,000 participants' exomes. Am J Hum Genet (2013) 4.06

Mutations in 12 genes for inherited ovarian, fallopian tube, and peritoneal carcinoma identified by massively parallel sequencing. Proc Natl Acad Sci U S A (2011) 3.99

The enduring hypoxic response of Mycobacterium tuberculosis. PLoS One (2008) 3.87

The lta4h locus modulates susceptibility to mycobacterial infection in zebrafish and humans. Cell (2010) 3.64

Host genotype-specific therapies can optimize the inflammatory response to mycobacterial infections. Cell (2012) 3.54

Duplications of the neuropeptide receptor gene VIPR2 confer significant risk for schizophrenia. Nature (2011) 3.51

Ten genes for inherited breast cancer. Cancer Cell (2007) 3.45

Spatial and temporal mapping of de novo mutations in schizophrenia to a fetal prefrontal cortical network. Cell (2013) 3.26

Research capacity. Enabling the genomic revolution in Africa. Science (2014) 3.05

Quality of life after total laparoscopic hysterectomy versus total abdominal hysterectomy for stage I endometrial cancer (LACE): a randomised trial. Lancet Oncol (2010) 2.89

Medicine. The future of psychiatric research: genomes and neural circuits. Science (2010) 2.79

Mutations in the DBP-deficiency protein HSD17B4 cause ovarian dysgenesis, hearing loss, and ataxia of Perrault Syndrome. Am J Hum Genet (2010) 2.76

Unexpected gynecologic neoplasms in patients with proven or suspected BRCA-1 or -2 mutations: implications for gross examination, cytology, and clinical follow-up. Am J Surg Pathol (2002) 2.70

Temporal variability of human vaginal bacteria and relationship with bacterial vaginosis. PLoS One (2010) 2.62

Targeted genomic capture and massively parallel sequencing to identify genes for hereditary hearing loss in Middle Eastern families. Genome Biol (2011) 2.62

DBC2, a candidate for a tumor suppressor gene involved in breast cancer. Proc Natl Acad Sci U S A (2002) 2.58

Secondary somatic mutations restoring BRCA1/2 predict chemotherapy resistance in hereditary ovarian carcinomas. J Clin Oncol (2011) 2.33

Single molecule molecular inversion probes for targeted, high-accuracy detection of low-frequency variation. Genome Res (2013) 2.29

Contribution of inherited mutations in the BRCA2-interacting protein PALB2 to familial breast cancer. Cancer Res (2011) 2.27

Accurate and exact CNV identification from targeted high-throughput sequence data. BMC Genomics (2011) 2.20

From flies' eyes to our ears: mutations in a human class III myosin cause progressive nonsyndromic hearing loss DFNB30. Proc Natl Acad Sci U S A (2002) 2.17

The molecular pathogenesis of hereditary ovarian carcinoma: alterations in the tubal epithelium of women with BRCA1 and BRCA2 mutations. Cancer (2010) 2.13

Mutations in mitochondrial histidyl tRNA synthetase HARS2 cause ovarian dysgenesis and sensorineural hearing loss of Perrault syndrome. Proc Natl Acad Sci U S A (2011) 2.11

Loss-of-function germline GATA2 mutations in patients with MDS/AML or MonoMAC syndrome and primary lymphedema reveal a key role for GATA2 in the lymphatic vasculature. Blood (2011) 2.08

Functional restoration of BRCA2 protein by secondary BRCA2 mutations in BRCA2-mutated ovarian carcinoma. Cancer Res (2009) 2.04

Genome-wide scan for familial nasopharyngeal carcinoma reveals evidence of linkage to chromosome 4. Nat Genet (2002) 2.00

ColoSeq provides comprehensive lynch and polyposis syndrome mutational analysis using massively parallel sequencing. J Mol Diagn (2012) 1.99

Familial clustering of site-specific cancer risks associated with BRCA1 and BRCA2 mutations in the Ashkenazi Jewish population. Proc Natl Acad Sci U S A (2006) 1.99

BRCA1 transcriptionally regulates genes involved in breast tumorigenesis. Proc Natl Acad Sci U S A (2002) 1.89

A novel dicyanotriterpenoid, 2-cyano-3,12-dioxooleana-1,9(11)-dien-28-onitrile, active at picomolar concentrations for inhibition of nitric oxide production. Bioorg Med Chem Lett (2002) 1.89

Tumor-specific p53 sequences in blood and peritoneal fluid of women with epithelial ovarian cancer. Am J Obstet Gynecol (2005) 1.72

Plasma processing conditions substantially influence circulating microRNA biomarker levels. PLoS One (2013) 1.71

Five novel loci for inherited hearing loss mapped by SNP-based homozygosity profiles in Palestinian families. Eur J Hum Genet (2009) 1.67

Genomic analysis of mental illness: a changing landscape. JAMA (2010) 1.56

MASP1 mutations in patients with facial, umbilical, coccygeal, and auditory findings of Carnevale, Malpuech, OSA, and Michels syndromes. Am J Hum Genet (2010) 1.51

Mutations in LARS2, encoding mitochondrial leucyl-tRNA synthetase, lead to premature ovarian failure and hearing loss in Perrault syndrome. Am J Hum Genet (2013) 1.50