Targeted Resequencing of 30 Genes Improves the Detection of Deleterious Mutations in South Indian Women with Breast and/or Ovarian Cancers

Rajkumar, Thangarajan; Meenakumari, Balaiah; Mani, Samson; Sridevi, Veluswami; Sundersingh, Shirley

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자료유형: 학술저널

저자정보: Rajkumar, Thangarajan (Department of Molecular Oncology, Cancer Institute [WIA]) Meenakumari, Balaiah (Department of Molecular Oncology, Cancer Institute [WIA]) Mani, Samson (Department of Molecular Oncology, Cancer Institute [WIA]) Sridevi, Veluswami (Department of Surgical Oncology, Cancer Institute [WIA]) Sundersingh, Shirley (Department of Onco-Pathology, Cancer Institute [WIA])

저널정보: 아시아태평양암예방학회 Asian Pacific journal of cancer prevention : APJCP Asian Pacific journal of cancer prevention : APJCP 제16권 제13호

발행연도: 2015.1

수록면: 5,211 - 5,217 (7page)

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Background: We earlier used PCR-dHPLC for mutation analysis of BRCA1 and BRCA2. In this article we report application of targeted resequencing of 30 genes involved in hereditary cancers. Materials and Methods: A total of 91 patient samples were analysed using a panel of 30 genes in the Illumina HiScan SQ system. CLCBio was used for mapping reads to the reference sequences as well as for quality-based variant detection. All the deleterious mutations were then reconfirmed using Sanger sequencing. Kaplan Meier analysis was conducted to assess the effect of deleterious mutations on disease free and overall survival. Results: Seventy four of the 91 samples had been run earlier using the PCR-dHPLC and no deleterious mutations had been detected while 17 samples were tested for the first time. A total of 24 deleterious mutations were detected, 11 in BRCA1, 4 in BRCA2, 5 in p53, one each in RAD50, RAD52, ATM and TP53BP1. Some 19 deleterious mutations were seen in patients who had been tested earlier with PCR-dHPLC [19/74] and 5/17 in the samples tested for the first time, Together with our earlier detected 21 deleterious mutations in BRCA1 and BRCA2, we now had 45 mutations in 44 patients. BRCA1c.68_69delAG;p.Glu23ValfsX16 mutation was the most common, seen in 10/44 patients. Kaplan Meier survival analysis did not show any difference in disease free and overall survival in the patients with and without deleterious mutations. Conclusions: The NGS platform is more sensitive and cost effective in detecting mutations in genes involved in hereditary breast and/or ovarian cancers.

#Targeted resequencing #BRCA1/BRCA2/RAD50/RAD52 #ATM #TP53BP1 #deleterious mutations

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