BRCA locus-specific loss of heterozygosity in germline BRCA1 and BRCA2 carriers
暂无分享,去创建一个
Nancy R. Zhang | K. Nathanson | M. Feldman | J. Pluta | Hao Chen | Yuchao Jiang | S. Domchek | N. Mitra | Adam A. Kraya | Ioannis N. Anastopoulos | K. Maxwell | B. Wubbenhorst | Brandon M. Wenz | J. Morrissette | K. D’Andrea | Shun Yu | Nicole M. Hackman | A. Barrett | Lyndsey Emery | Daniel De Sloover | R. Daber | Adam Kraya | Ioannis Anastopoulos
[1] Ludmil B. Alexandrov,et al. Abstract IA11: Signatures of mutational processes in human cancer , 2017 .
[2] E. Birney,et al. HRDetect is a predictor of BRCA1 and BRCA2 deficiency based on mutational signatures , 2017, Nature Medicine.
[3] Raymond M. Moore,et al. Evaluation of ACMG-Guideline-Based Variant Classification of Cancer Susceptibility and Non-Cancer-Associated Genes in Families Affected by Breast Cancer. , 2016, American journal of human genetics.
[4] David C. Jones,et al. Landscape of somatic mutations in 560 breast cancer whole genome sequences , 2016, Nature.
[5] Ann M. Bailey,et al. Incidental germline variants in 1000 advanced cancers on a prospective somatic genomic profiling protocol. , 2016, Annals of oncology : official journal of the European Society for Medical Oncology.
[6] Z. Szallasi,et al. Homologous Recombination Deficiency (HRD) Score Predicts Response to Platinum-Containing Neoadjuvant Chemotherapy in Patients with Triple-Negative Breast Cancer , 2016, Clinical Cancer Research.
[7] B. Taylor,et al. deconstructSigs: delineating mutational processes in single tumors distinguishes DNA repair deficiencies and patterns of carcinoma evolution , 2016, Genome Biology.
[8] Alan Ashworth,et al. BRCAness revisited , 2016, Nature Reviews Cancer.
[9] L. Fishbein. Pheochromocytomas and Paragangliomas , 2016 .
[10] Donavan T. Cheng,et al. Germline Variants in Targeted Tumor Sequencing Using Matched Normal DNA. , 2016, JAMA oncology.
[11] A. Richardson,et al. Haploinsufficiency for BRCA1 leads to cell-type-specific genomic instability and premature senescence , 2015, Nature Communications.
[12] Martin Kircher,et al. Biallelic mutations in BRCA1 cause a new Fanconi anemia subtype. , 2015, Cancer discovery.
[13] Ayala Hubert,et al. Olaparib monotherapy in patients with advanced cancer and a germline BRCA1/2 mutation. , 2015, Journal of clinical oncology : official journal of the American Society of Clinical Oncology.
[14] Angela DeMichele,et al. Prevalence of mutations in a panel of breast cancer susceptibility genes in BRCA1/2 negative patients with early onset breast cancer , 2014, Genetics in Medicine.
[15] Julian Gehring,et al. SomaticSignatures: inferring mutational signatures from single-nucleotide variants , 2014, bioRxiv.
[16] Z. Szallasi,et al. Sequenza: allele-specific copy number and mutation profiles from tumor sequencing data , 2014, Annals of oncology : official journal of the European Society for Medical Oncology.
[17] A. Richardson,et al. BRCA1 haploinsufficiency for replication stress suppression in primary cells , 2014, Nature Communications.
[18] E. Winer,et al. Phase I trial of olaparib in combination with cisplatin for the treatment of patients with advanced breast, ovarian and other solid tumors. , 2014, Annals of oncology : official journal of the European Society for Medical Oncology.
[19] Benjamin J. Raphael,et al. Integrated Analysis of Germline and Somatic Variants in Ovarian Cancer , 2014, Nature Communications.
[20] Rahul Bhagat,et al. BRCA1 promoter hypermethylation and protein expression in ovarian carcinoma—an Indian study , 2014, Tumor Biology.
[21] Gregory A. Wyant,et al. Transformation of the fallopian tube secretory epithelium leads to high-grade serous ovarian cancer in Brca;Tp53;Pten models. , 2013, Cancer cell.
[22] Zoltan Szallasi,et al. Tumor Mutation Burden Forecasts Outcome in Ovarian Cancer with BRCA1 or BRCA2 Mutations , 2013, PloS one.
[23] Manash S. Chatterjee,et al. The poly(ADP-ribose) polymerase inhibitor niraparib (MK4827) in BRCA mutation carriers and patients with sporadic cancer: a phase 1 dose-escalation trial. , 2013, The Lancet. Oncology.
[24] M. Urioste,et al. DNA copy number profiling reveals extensive genomic loss in hereditary BRCA1 and BRCA2 ovarian carcinomas , 2013, British Journal of Cancer.
[25] A. Sivachenko,et al. Sensitive detection of somatic point mutations in impure and heterogeneous cancer samples , 2013, Nature Biotechnology.
[26] N. Schultz,et al. BRCA1 Immunohistochemistry in a Molecularly Characterized Cohort of Ovarian High-Grade Serous Carcinomas , 2013, The American journal of surgical pathology.
[27] Steven A. Roberts,et al. Mutational heterogeneity in cancer and the search for new cancer-associated genes , 2013 .
[28] A. Vincent-Salomon,et al. Ploidy and large-scale genomic instability consistently identify basal-like breast carcinomas with BRCA1/2 inactivation. , 2012, Cancer research.
[29] G. Mills,et al. Patterns of genomic loss of heterozygosity predict homologous recombination repair defects in epithelial ovarian cancer , 2012, British Journal of Cancer.
[30] M. Gönen,et al. Evolutionary pathways in BRCA1-associated breast tumors. , 2012, Cancer discovery.
[31] Z. Szallasi,et al. Telomeric allelic imbalance indicates defective DNA repair and sensitivity to DNA-damaging agents. , 2012, Cancer discovery.
[32] Christopher A. Miller,et al. VarScan 2: somatic mutation and copy number alteration discovery in cancer by exome sequencing. , 2012, Genome research.
[33] Gord Glendon,et al. Association Between BRCA1 and BRCA2 Mutations and Survival in Women With Invasive Epithelial Ovarian Cancer , 2012 .
[34] J. Thigpen. Olaparib Maintenance Therapy in Platinum-Sensitive Relapsed Ovarian Cancer , 2012 .
[35] Hiroyuki Konishi,et al. Mutation of a single allele of the cancer susceptibility gene BRCA1 leads to genomic instability in human breast epithelial cells , 2011, Proceedings of the National Academy of Sciences.
[36] C. Ouzounis,et al. Copy Number and Loss of Heterozygosity Detected by SNP Array of Formalin-Fixed Tissues Using Whole-Genome Amplification , 2011, PloS one.
[37] Thomas Helleday,et al. The underlying mechanism for the PARP and BRCA synthetic lethality: Clearing up the misunderstandings , 2011, Molecular oncology.
[38] Y. Drew,et al. Therapeutic potential of poly(ADP-ribose) polymerase inhibitor AG014699 in human cancers with mutated or methylated BRCA1 or BRCA2. , 2011, Journal of the National Cancer Institute.
[39] K. Gelmon,et al. Oral poly(ADP-ribose) polymerase inhibitor olaparib in patients with BRCA1 or BRCA2 mutations and advanced breast cancer: a proof-of-concept trial , 2011 .
[40] Ashok R Venkitaraman,et al. Germline Brca2 heterozygosity promotes Kras(G12D) -driven carcinogenesis in a murine model of familial pancreatic cancer. , 2010, Cancer cell.
[41] M. DePristo,et al. The Genome Analysis Toolkit: a MapReduce framework for analyzing next-generation DNA sequencing data. , 2010, Genome research.
[42] Mark Robson,et al. Oral poly(ADP-ribose) polymerase inhibitor olaparib in patients with BRCA1 or BRCA2 mutations and advanced breast cancer: a proof-of-concept trial , 2010, The Lancet.
[43] A. Tutt,et al. Oral poly(ADP-ribose) polymerase inhibitor olaparib in patients with BRCA1 or BRCA2 mutations and recurrent ovarian cancer: a proof-of-concept trial , 2010, The Lancet.
[44] H. Hakonarson,et al. ANNOVAR: functional annotation of genetic variants from high-throughput sequencing data , 2010, Nucleic acids research.
[45] R. Nussbaum,et al. Genetic/familial high-risk assessment: breast and ovarian. , 2010, Journal of the National Comprehensive Cancer Network : JNCCN.
[46] A. Ashworth,et al. Inhibition of poly(ADP-ribose) polymerase in tumors from BRCA mutation carriers. , 2009, The New England journal of medicine.
[47] F. Couch,et al. Edinburgh Research Explorer Functional restoration of BRCA2 protein by secondary BRCA2 mutations in BRCA2-mutated ovarian carcinoma , 2022 .
[48] J. Klijn,et al. Sensitivity to first-line chemotherapy for metastatic breast cancer in BRCA1 and BRCA2 mutation carriers. , 2009, Journal of clinical oncology : official journal of the American Society of Clinical Oncology.
[49] Richard Durbin,et al. Sequence analysis Fast and accurate short read alignment with Burrows – Wheeler transform , 2009 .
[50] R. Durbin,et al. Sequence analysis Fast and accurate short read alignment with Burrows – Wheeler transform , 2009 .
[51] O. Johannsson,et al. Genomic profiling of breast tumours in relation to BRCA abnormalities and phenotypes , 2009, Breast Cancer Research.
[52] J. Kładny,et al. Response to neoadjuvant therapy with cisplatin in BRCA1-positive breast cancer patients , 2009, Breast Cancer Research and Treatment.
[53] B. Karlan,et al. Secondary BRCA1 mutations in BRCA1-mutated ovarian carcinomas with platinum resistance. , 2008, Cancer research.
[54] F. Couch,et al. Secondary mutations as a mechanism of cisplatin resistance in BRCA2-mutated cancers , 2008, Nature.
[55] L. Saal,et al. Recurrent gross mutations of the PTEN tumor suppressor gene in breast cancers with deficient DSB repair , 2008, Nature Genetics.
[56] J. Bartek,et al. DNA Damage Response as an Anti-Cancer Barrier: Damage Threshold and the Concept of 'Conditional Haploinsufficiency' , 2007, Cell cycle.
[57] Y. Jeng,et al. Brca1 heterozygous mice have shortened life span and are prone to ovarian tumorigenesis with haploinsufficiency upon ionizing irradiation , 2007, Oncogene.
[58] A. Ashworth,et al. BRCA1 dysfunction in sporadic basal-like breast cancer , 2007, Oncogene.
[59] Thomas Helleday,et al. Specific killing of BRCA2-deficient tumours with inhibitors of poly(ADP-ribose) polymerase , 2007, Nature.
[60] Mark B Gerstein,et al. Assessment of whole genome amplification-induced bias through high-throughput, massively parallel whole genome sequencing , 2006, BMC Genomics.
[61] Alan Ashworth,et al. Targeting the DNA repair defect in BRCA mutant cells as a therapeutic strategy , 2005, Nature.
[62] A. Ashworth,et al. Hallmarks of 'BRCAness' in sporadic cancers , 2004, Nature Reviews Cancer.
[63] T. Nikaido,et al. Expression of BRCA1 protein in benign, borderline, and malignant epithelial ovarian neoplasms and its relationship to methylation and allelic loss of the BRCA1 gene , 2004, The Journal of pathology.
[64] J. Hopper,et al. Average risks of breast and ovarian cancer associated with BRCA1 or BRCA2 mutations detected in case Series unselected for family history: a combined analysis of 22 studies. , 2003, American journal of human genetics.
[65] R. Weichselbaum,et al. The Breast Cancer Susceptibility Gene BRCA1 Is Required for Subnuclear Assembly of Rad51 and Survival following Treatment with the DNA Cross-linking Agent Cisplatin* , 2000, The Journal of Biological Chemistry.
[66] J. Herman,et al. Promoter hypermethylation and BRCA1 inactivation in sporadic breast and ovarian tumors. , 2000, Journal of the National Cancer Institute.
[67] A. Tomkinson,et al. DNA damage-induced cell cycle checkpoints and DNA strand break repair in development and tumorigenesis , 1999, Oncogene.
[68] H. Olsson. Cancer risks in BRCA2 mutation carriers. , 1999, Journal of the National Cancer Institute.
[69] E. Venkatraman,et al. BRCA1 up-regulation is associated with repair-mediated resistance to cis-diamminedichloroplatinum(II). , 1998, Cancer research.
[70] J. Gudmundsson,et al. Different tumor types from BRCA2 carriers show wild-type chromosome deletions on 13q12-q13. , 1995, Cancer research.
[71] D. Easton,et al. Allele losses in the region 17q12–21 in familial breast and ovarian cancer involve the wild–type chromosome , 1992, Nature Genetics.