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Wooster, R. et al. Identification of the susceptibility gene for bad cancer BRCA2. Nature 378789-792 (1995).
Miki, Y. et al. A strong candidate for the bad cancer and ovarian susceptibility gene BRCA1. Science 266, 66-71 (1994).
Roy, R., Chun, J. and Powell, S. N. BRCA1 and BRCA2: different roles in a common path of genome protection. Nat. Rev. Cancer 12, 68-78 (2011).
Kuchenbaecker, K.B. et al. Risks of bad cancer, ovaries and contralateral bad in BRCA1 and BRCA2 mutation carriers. Jam. Med. Assoc. 317, 2402-2416 (2017).
Paluch-Shimon, S. et al. Prevention and screening in carriers of the BRCA mutation and other hereditary bad / ovarian cancer syndromes: ESMO clinical practice guidelines for cancer prevention and screening. Ann. Oncol. 27 (Suppl.5), v103 to v110 (2016).
Maxwell, K.N. et al. BRCA loss of heterozygosity in the germ line specific to the locus BRCA1 and BRCA2 carriers. Nat. Common. 8319 (2017).
Lord, C. J. & Ashworth, A. BRCAness revisited. Nat. Rev. Cancer 16, 110-120 (2016).
Yu, V.P. et al. Global chromosomal rearrangements and genetic exchanges between non-homologous chromosomes after BRCA2 l & # 39; inactivation. Genes Dev. 141400-1406 (2000).
Moynahan, M.E., Pierce, A.J. and Jasin, M. BRCA2 is needed for the directed repair of chromosome ruptures homology. Mol. Cell 7263-272 (2001).
Moynahan, M.E., J.W., Koller, B.H. and Jasin, M.Brca1 control homology-directed DNA repair. Mol. Cell 4511-518 (1999).
Alexandrov, L.B. et al. Signatures of mutational processes in human cancer. Nature 500415-421 (2013).
Davies, H. et al. HRDetect is a predictor of BRCA1 and BRCA2 deficiency based on mutational signatures. Nat. Med. 23517-525 (2017).
Marquard, A. M. et al. The pan-cancer badysis of genomic scar signatures badociated with homologous recombination deficiency suggests new indications for existing anticancer drugs. Biomark. Res. 39 (2015).
Moore, K. et al. Olaparib maintenance in patients with advanced advanced ovarian cancer recently diagnosed. N. Engl. J. Med. 3792495-2505 (2018).
Robson, M. et al. Olaparib for metastatic bad cancer in patients with germline BRCA mutation. N. Engl. J. Med. 377, 523-533 (2017).
Manickam, K. et al. Screening based on Exome sequencing for BRCA1 / 2 pathogenic variants expected in adult participants of the biobank. JAMA Network open now 1, e182140 (2018).
Mandelker, D. et al. Detection of the mutation in patients with advanced cancer by universal sequencing of cancer-related genes in tumor and normal DNA tests against guidelines. Jam. Med. Assoc. 318825-835 (2017).
Cheng, D. T. et al. Complete detection of germline variants by MSK-IMPACT, a clinical diagnostic platform for molecular oncology of solid tumors and concomitant cancer susceptibility tests. BMC Med. genomics ten, 33 (2017).
Zehir, A. et al. The mutational landscape of metastatic cancer revealed by the prospective clinical sequencing of 10,000 patients. Nat. Med. 23703-713 (2017).
Levy-Lahad, E. & Friedman, E. Cancer Risks at BRCA1 and BRCA2 mutation carriers. French. J. Cancer 96, 11-15 (2007).
Mersch, J. et al. Cancers badociated with BRCA1 and BRCA2 mutations other than bad and ovarian. Cancer 121269-275 (2015).
Scully, R. & Livingston, D. M. In Search of Suppressive Tumor Functions BRCA1 and BRCA2. Nature 408429-432 (2000).
Timms, K.M. et al. badociation of BRCA1 / 2 abnormalities with genomic scores predictive of DNA repair damage deficit among bad cancer subtypes. Res bad cancer. 16475 (2014).
Mouw, K.W., Goldberg, M.S., Konstantinopoulos, P.A. & D'Andrea, A.D. Damage to DNA and repair of biomarkers of the immunotherapeutic response. Cancer Discov. 7675-693 (2017).
Nolan, E. et al. Combined immune blockade as a therapeutic strategy for BRCA1mutated bad cancer. Sci. Trad. Med. 9eaal4922 (2017).
Drilon, A. et al. Efficacy of larotrectinib in TRK fusion cancers in adults and children. N. Engl. J. Med. 378731 to 739 (2018).
Le, D. T. et al. A mismatch repair deficiency predicts the response of solid tumors to PD-1 blockade. Science 357409 to 413 (2017).
Cheng, D. T. et al. Memorial Sloan Kettering – Integrated Mutation of Targeted Cancer Targets (MSK-IMPACT): Clinical Next Generation Sequencing Trial Based on Hybridization Capture for Molecular Oncology of Solid Tumors. J. Mol. Diagnostic. 17, 251-264 (2015).
Coombs, C.C. et al. Clonal hematopoiesis-related treatment in patients with non-hematologic cancer is common and badociated with adverse clinical outcomes. Cell strain cell 21374-382 (2017).
Karczewski, K.J. et al. The variation on 141,456 exomes and human genomes reveals the spectrum of intolerance to loss of function between genes encoding human proteins. Pre-print on https://www.bioRxiv.org/content/10.1101/531210v2 (2019).
Spurdle, A.B. et al. ENIGMA – evidence-based network for the interpretation of germ-line mutant alleles: an international initiative to badess the risk and clinical significance badociated with sequence variation in BRCA1 and BRCA2 the genes. Hum. mutat. 33, 2-7 (2012).
Findlay, G.M. et al. Accurate clbadification of BRCA1 variants with saturation genome editing. Nature 562217-222 (2018).
Chakravarty, D. et al. OncoKB: a knowledge base in precision oncology. JCO Precis. Oncol. https://doi.org/10.1200/PO.17.00011 (2017).
Niu, B. et al. MSIsensor: detection of microsatellite instability using matched normal tumor sequence data. bioinformatics 301015-1016 (2014).
Middha, S. et al. Reliable evaluation of the instability of pan-cancer microsatellites with the help of next-generation targeted sequencing data. JCO Precis. Oncol. https://doi.org/10.1200/PO.17.00084 (2017).
Johnson, B.E. et al. Mutual badysis reveals the origin and evolution of recurrent gliomas induced by therapy. Science 343, 189-193 (2014).
Shen, R. & Seshan, V. E. FACETS: Clone-specific copy and clonal heterogeneity badysis tool for alleles for high throughput DNA sequencing. Nucleic Acids Res. 44, e131 (2016).
Bielski, C.M. et al. The doubling of the genome shapes the evolution and prognosis of advanced cancers. Nat. Broom. 501189-1195 (2018).
McGranahan, N. et al. Clonal status of actionable driving events and timing of mutational processes in the course of cancer. Sci. Trad. Med. 7, 283ra54 (2015).
Mose, L.E., Wilkerson, M.D., Hayes, D.N., Peru, C.M. and Parker, J.S.A.RA: Improved detection of indel coding via badembly-based realignment. bioinformatics 30, 2813-2815 (2014).
DePristo, M.A. et al. A framework for variation discovery and genotyping using next-generation DNA sequencing data. Nat. Broom. 43491-498 (2011).
Cibulskis, K. et al. Sensitive detection of somatic point mutations in impure and heterogeneous cancer samples. Nat. Biotechnol. 31213-219 (2013).
Lai, Z. et al. VarDict: an innovative and versatile variant for next-generation sequencing in cancer research. Nucleic Acids Res. 44e108 (2016).
Chang, M.T. et al. Accelerated discovery of functional mutant alleles in cancer. Cancer Discov. 8174-183 (2018).
Chang, M.T. et al. Identifying recurrent mutations in cancer reveals extensive lineage diversity and mutation specificity. Nat. Biotechnol. 34155-163 (2016).
Alexandrov, L.B. et al. Mutation-type clock processes in human somatic cells. Nat. Broom. 471402-1407 (2015).
Wang, Y. K. et al. The genomic consequences of aberrant DNA repair mechanisms stratify histotypes of ovarian cancer. Nat. Broom. 49856 to 865 (2017).
Huang, K.-L. et al. Germinal pathogenic variants in 10,389 adult cancers. Cell 173355-370 (2018).
Knijnenburg, T.A. et al. Genomic and molecular landscape of DNA repair damage deficit in the atlas of the cancer genome. Cell Rep. 23239-254 (2018).
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