title: Heredity Cancer Targeted Reseq_1_1
design: The study includes n=106 hereditary breast and/or ovarian cancer                 patients, of which 77 breast cancer, 15 ovarian cancer, 5 breast and ovarian cancer,                 8 Hereditary non polyposis colorectal cancer and 1 soft tissue sarcoma patients. All                 the patients provided their informed consent for the study, which was cleared by the                 Institutional Ethical committee. 1 µg of DNA from each patient was used to prepare                 the libraries using TrueSeq Sample preparation kit (Illumina, Inc). Genomic DNA was                 captured by hybridisation using Custom selected oligos enrichment kit from Illumina.                 Captured library DNA 10 picomoles was denatured and subjected to cluster generation                 using a CBot instrument (Illumina, Inc) on a Paired end Flow cell v3.0. The raw                 cluster density was ~500,000 mm2 .Sequencing was performed on a Illumina HiScan SQ                 system using SBS 3.0 reagent. Genes evaluated by Custom selected oligo enrichment                 kit were BRCA1, BRCA2, CHEK2, PALB2, BRIP1, Tp53, ATR, ATM, BARD1, MLH1, MSH2, MSH3,                 MSH6, NBN, PMS1, PMS2, RAD50, RAD51, RAD51C, RAD52, FANCD2, SMC1A, CDH1, MRE11,                 MUTYH, PTEN STK11.MDC1,TP53BP1, and CHFR All the suspected mutations were validated                 by PCR amplification and sanger sequencing.
identifiers.namespace: CANCER INSTITUTE (WIA)
identifiers.id: Targeted Reseq1