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      Inherited DNA-Repair Gene Mutations in Men with Metastatic Prostate Cancer

      Author(s): , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , ,
      Publication date Created:
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      Journal: New England Journal of Medicine
      Publisher: Massachusetts Medical Society

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          Abstract

          Inherited mutations in DNA-repair genes such as BRCA2 are associated with increased risks of lethal prostate cancer. Although the prevalence of germline mutations in DNA-repair genes among men with localized prostate cancer who are unselected for family predisposition is insufficient to warrant routine testing, the frequency of such mutations in patients with metastatic prostate cancer has not been established.

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          Detection of inherited mutations for breast and ovarian cancer using genomic capture and massively parallel sequencing.

          Tom Walsh, Ming Lee, Silvia Casadei … (2010)
          Inherited loss-of-function mutations in the tumor suppressor genes BRCA1, BRCA2, and multiple other genes predispose to high risks of breast and/or ovarian cancer. Cancer-associated inherited mutations in these genes are collectively quite common, but individually rare or even private. Genetic testing for BRCA1 and BRCA2 mutations has become an integral part of clinical practice, but testing is generally limited to these two genes and to women with severe family histories of breast or ovarian cancer. To determine whether massively parallel, "next-generation" sequencing would enable accurate, thorough, and cost-effective identification of inherited mutations for breast and ovarian cancer, we developed a genomic assay to capture, sequence, and detect all mutations in 21 genes, including BRCA1 and BRCA2, with inherited mutations that predispose to breast or ovarian cancer. Constitutional genomic DNA from subjects with known inherited mutations, ranging in size from 1 to >100,000 bp, was hybridized to custom oligonucleotides and then sequenced using a genome analyzer. Analysis was carried out blind to the mutation in each sample. Average coverage was >1200 reads per base pair. After filtering sequences for quality and number of reads, all single-nucleotide substitutions, small insertion and deletion mutations, and large genomic duplications and deletions were detected. There were zero false-positive calls of nonsense mutations, frameshift mutations, or genomic rearrangements for any gene in any of the test samples. This approach enables widespread genetic testing and personalized risk assessment for breast and ovarian cancer.
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            Whole-Exome Sequencing of Metastatic Cancer and Biomarkers of Treatment Response.

            Himisha Beltran, Kenneth Y. Eng, Juan Miguel Mosquera … (2015)
            Understanding molecular mechanisms of response and resistance to anticancer therapies requires prospective patient follow-up and clinical and functional validation of both common and low-frequency mutations. We describe a whole-exome sequencing (WES) precision medicine trial focused on patients with advanced cancer.
            Article 0 comments Cited 140 times – based on 0 reviews     Review now
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              Germline Variants in Targeted Tumor Sequencing Using Matched Normal DNA.

              Kasmintan A. Schrader, Donavan Cheng, Vijai Joseph … (2016)
              Tumor genetic sequencing identifies potentially targetable genetic alterations with therapeutic implications. Analysis has concentrated on detecting tumor-specific variants, but recognition of germline variants may prove valuable as well.
              Article 0 comments Cited 121 times – based on 0 reviews     Review now
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                Author and article information

                Journal
                Title: New England Journal of Medicine
                Abbreviated Title: N Engl J Med
                Publisher: Massachusetts Medical Society
                ISSN (Print): 0028-4793
                ISSN (Electronic): 1533-4406
                Publication date Created: August 04 2016
                Publication date (Print): August 04 2016
                Volume: 375
                Issue: 5
                Pages: 443-453
                Article
                DOI: 10.1056/NEJMoa1603144
                PMC ID: 4986616
                PubMed ID: 27433846
                SO-VID: 66c0b637-2142-49dc-b1f2-ad3c55643e3c
                Copyright © © 2016
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