Eskiler, Gamze Güney2023-08-112023-08-112017Eryılmaz, I. E. vd. (2017). ''The matter of clinical sequencing for familial breast cancer: The route from Sanger to next generation''. E-Health and Bioengineering Conference, 2017 IEEE Internatıonal conference on E-health and bioengineerıng conference (EHB), 181-184.978-1-5386-0358-12575-51372575-5145http://hdl.handle.net/11452/33469Bu çalışma, 22-24 Haziran 2017 tarihlerinde Sinaia[Romanya]’da düzenlenen 6. IEEE International Conference on E-Health and Bioengineering (EHB) Kongresi‘nde bildiri olarak sunulmuştur.We mentioned the importance of clinical sequence analysis in risk determination, diagnostic and therapeutic process of familial breast cancer and we also summarized next generation sequencing applications in this cancer type. In conclusion, BRCA1/2 genes mutations are associated with an increasing the risk of particularly familial breast cancer. However, sequencing of moderate penetrance genes and/or whole exome could also fill large knowledge gaps in explaining genetic predisposition of breast cancer.eninfo:eu-repo/semantics/closedAccessComputer scienceEngineeringMedical informaticsGenesRisk analysisRisk assessmentFamilial breast cancerNext generation sequencingEarly-onsetInherited mutationsDna-repairRiskBrca1AssociationVariantsPalb2Breast cancerGenes mutationGenetic predispositionKnowledge gapsNext-generation sequencingRisk determinationSanger sequencingSequence analysisDiseasesProceedings Paper0004454575000462-s2.0-85028568022181184Computer science, interdisciplinary applicationsEngineering, biomedicalMedical informaticsFamilial Breast Cancer; Partner and Localizer of BRCA2; Breast Neoplasms