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    Related:

    Commentary:

    Gene sequencing in ovarian cancer: continually moving targets.

    • Practice guidelines for BRCA1/2 tumour testing in ovarian cancer.
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    Related:

    Identifier: NCT02342158: Identifying Molecular Alterations to Guide Individualized Treatment in Advanced Solid Tumors (PERMED01). (ClinicalTrials.gov)

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    • Identification of the most common BRCA alterations through analysis of germline mutation databases: Is droplet digital PCR an additional strategy for the assessment of such alterations in breast and ovarian cancer families?
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    • Whole-genome risk prediction of common diseases in human preimplantation embryos.
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    Related:

    Commentary:

    Polygenic embryo testing: understated ethics, unclear utility.

    Commentary:

    The uncertain science of preimplantation and prenatal genetic testing.

    Press: Preimplantation Genetic Testing Could be Informed by Whole-Genome Reconstruction, Study Shows. (GenomeWeb)

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    Related:

    Introductory article:

    From Genetic Testing to Treatment and Prevention of BRCA-Related Breast Cancer.

    • Frequency of BRCA1 and BRCA2 Mutations in Individuals with Breast and Ovarian Cancer in a Chinese Hakka Population Using Next-Generation Sequencing.
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    • Clin Cancer Res. 2020 Feb 7. pii: clincanres.2933.2019. doi: 10.1158/1078-0432.CCR-19-2933. [Epub ahead of print]
    • Development and Validation of a 34-Gene Inherited Cancer Predisposition Panel Using Next-Generation Sequencing.
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    • GeneReader NGS System Is a Useful Sequencing Platform for Clinical Testing of BRCA1 and BRCA2.
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    • Identification of novel BRCA1 large genomic rearrangements by a computational algorithm of amplicon-based Next-Generation Sequencing data.
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    • Ambry and My Gene Counsel Team Up on Tests to Confirm DTC Results, Counseling.
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    • Clinical OMICs. 2019 Mar 19.

    Related:

    Original research:

    False-positive results released by direct-to-consumer genetic tests highlight the importance of clinical confirmation testing for appropriate patient care.

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    • Evaluation of some direct-to-consumer genetic testing reveals inaccuracies and misinterpretations.
    • [No author given]
    • FORCE. XRAYS. 2018 Jun 28.

    Related:

    False-positive results released by direct-to-consumer genetic tests highlight the importance of clinical confirmation testing for appropriate patient care.

    • The ICR639 CPG NGS validation series: A resource to assess analytical sensitivity of cancer predisposition gene testing.
    • Mahamdallie S, Ruark E, Holt E, Poyastro-Pearson E, Renwick A, Strydom A, Seal S, Rahman N.
    • Wellcome Open Res. 2018 Jun 12;3:68. doi: 10.12688/wellcomeopenres.14594.1. eCollection 2018.
    • High-resolution melting analysis coupled with next-generation sequencing as a simple tool for the identification of a novel somatic BRCA2 variant: a case report.
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    • Hum Genome Var. 2018 Jun 8;5:10. doi: 10.1038/s41439-018-0006-x. eCollection 2018.
    • A comprehensive BRCA1/2 NGS pipeline for an immediate Copy Number Variation (CNV) detection in breast and ovarian cancer molecular diagnosis.
    • Concolino P, Rizza R, Mignone F, Costella A, Guarino D, Carboni I, Capoluongo E, Santonocito C, Urbani A, Minucci A.
    • Clin Chim Acta. 2018 May;480:173-179. doi: 10.1016/j.cca.2018.02.012. Epub 2018 Feb 16.
    • Main implications related to the switch to BRCA1/2 tumor testing in ovarian cancer patients: a proposal of a consensus.
    • Capoluongo E, Scambia G, Nabholtz JM.
    • Oncotarget. 2018 Apr 13;9(28):19463-19468. doi: 10.18632/oncotarget.24728. eCollection 2018 Apr 13.
    • A Whole Germline BRCA2 Gene Deletion: How to Learn from CNV In Silico Analysis.
    • Scaglione GL, Concolino P, De Bonis M, De Paolis E, Minucci A, Ferrandina G, Scambia G, Capoluongo E.
    • Int J Mol Sci. 2018 Mar 23;19(4). pii: E961. doi: 10.3390/ijms19040961.
    • False-positive results released by direct-to-consumer genetic tests highlight the importance of clinical confirmation testing for appropriate patient care.
    • Tandy-Connor S, Guiltinan J, Krempely K, LaDuca H, Reineke P, Gutierrez S, Gray P, Tippin Davis B.
    • Genet Med. 2018 Mar 22. doi: 10.1038/gim.2018.38. [Epub ahead of print]

    Related:

    Commentary:

    Attention: Direct-To-Consumer patrons: Proceed with caution.

    Research news: Evaluation of some direct-to-consumer genetic testing reveals inaccuracies and misinterpretations (FORCE. XRAYS.)

    Press: Wrangle Over DTC Results—Ambry Study Highlights 40% False Positives, 23andMe Defends Tests, and Experts Weigh In. (Clinical OMICs)

    Press: Ambry and My Gene Counsel Team Up on Tests to Confirm DTC Results, Counseling. (Clinical OMICs)

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    Related:

    Comments on NSGC Discussion Forum Cancer SIG

    Subject: RAD50 Positive Letter

    • gDNA enrichment by a transposase-based technology for NGS analysis of the whole sequence of BRCA1, BRCA2, and 9 genes involved in DNA damage repair.
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    • Pathway Genomics Launches BRCA1/2 Genetic Test with One for One Program.
    • [No author given]
    • Business Wire, 2014 Jun 3.
    • The Validation and Clinical Implementation of BRCAplus: A Comprehensive High-Risk Breast Cancer Diagnostic Assay.
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    • Next-generation sequencing of BRCA1 and BRCA2 in breast cancer patients and control subjects.
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    • [No author given]
    • GenomeWeb. 2013 May 9.
    • Systematic Detection of Pathogenic Alu Element Insertions in NGS-Based Diagnostic Screens: The BRCA1/BRCA2 Example.
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    • Hum Mutat. 2013 May;34(5):785-91. doi: 10.1002/humu.22297. Epub 2013 Mar 11.
    • Whole Exome Sequencing Suggests Much of Non-BRCA1/BRCA2 Familial Breast Cancer Is Due to Moderate and Low Penetrance Susceptibility Alleles.
    • Gracia-Aznarez FJ, Fernandez V, Pita G, Peterlongo P, Dominguez O, de la Hoya M, Duran M, Osorio A, Moreno L, Gonzalez-Neira A, Rosa-Rosa JM, Sinilnikova O, Mazoyer S, Hopper J, Lazaro C, Southey M, Odefrey F, Manoukian S, Catucci I, Caldes T, Lynch HT, Hilbers FS, van Asperen CJ, Vasen HF, Goldgar D, Radice P, Devilee P, Benitez J.
    • PLoS One. 2013;8(2):e55681. doi: 10.1371/journal.pone.0055681. Epub 2013 Feb 8.
    • Exome sequencing of germline DNA from non-BRCA1/2 familial breast cancer cases selected on the basis of aCGH tumor profiling.
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    • J Mol Diagn. 2012 Nov;14(6):602-12. doi: 10.1016/j.jmoldx.2012.06.003. Epub 2012 Aug 22.
    • Molecular analysis of the breast cancer genes BRCA1 and BRCA2 using amplicon-based massive parallelpyrosequencing.
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    • J Mol Diagn. 2012 Nov;14(6):623-30. doi: 10.1016/j.jmoldx.2012.05.006. Epub 2012 Sep 30.
    • Long-range PCR and next-generation sequencing of BRCA1 and BRCA2 in breast cancer.
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    • J Mol Diagn. 2012 Sep;14(5):467-75. doi: 10.1016/j.jmoldx.2012.03.006. Epub 2012 Aug 6.

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    Press: New BRCA1 and BRCA2 Test May Be More Accurate, Less Expensive. (Breastcancer.org)

    • Secondary variants in individuals undergoing exome sequencing: screening of 572 individuals identifies high-penetrance mutations in cancer-susceptibility genes.
    • Johnston JJ, Rubinstein WS, Facio FM, Ng D, Singh LN, Teer JK, Mullikin JC, Biesecker LG.
    • Am J Hum Genet. 2012 Jul 13;91(1):97-108. doi: 10.1016/j.ajhg.2012.05.021. Epub 2012 Jun 14.

    Related:

    Comments from NSGC Discussion Forum Cancer SIG

    Subject: articles needed