Category: Genetic Testing

• Remote Screening Test for Ovarian Cancer Receives Study Validation.
• [No author given]
• Clinical OMICs. 2020 Jun 2.

• Conference news
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• Polygenic Risk Score, Family History Refine Breast Cancer Risk Assessment in CHEK2 Mutation Carriers.
• Anderson A.
• Precision Oncology News. 2020 May 31.

• Conference news
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• Establishing a framework for the clinical translation of germline findings in precision oncology.
• Dixon K, Young S, Shen Y, Thibodeau ML, Fok A, Pleasance E, Zhao E, Jones M, Aubert G, Armstrong L, Virani A, Regier D, Gelmon K, Renouf D, Chia S, Bosdet I, Rassekh SR, Deyell RJ, Yip S, Fisic A, Titmuss E, Abadi S, Jones SJM, Sun S, Karsan A, Marra M, Laskin J, Lim H, Schrader KA.
• JNCI Cancer Spectr. 2020 May 29; pkaa045. doi: 10.1093/jncics/pkaa045. eCollection 2020 May.

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• Genetic Testing and Screening Recommendations for Patients with Hereditary Breast Cancer.
• Bharucha PP, Chiu KE, François FM, Scott JL, Khorjekar GR, Tirada NP.
• Radiographics. 2020 May 29:190181. doi: 10.1148/rg.2020190181. Epub ahead of print.

• PMID: 32469631
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Invited Commentary: Breast Cancer Risk Assessment and Screening Strategies—What’s New?

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• Changing practice: moving to a specialist nurse-led service for BRCA gene testing.
• Scott N, O'Sullivan J, Asgeirsson K, Macmillan D, Wilson E.
• Br J Nurs. 2020 May 28;29(10):S6-S13. doi: 10.12968/bjon.2020.29.10.S6.

• PMID: 32463748
• PubMed abstract
• Source abstract

• Utilization of health information technology among cancer genetic counselors.
• Ritchie JB, Allen CG, Morrison H, Nichols M, Lauzon SD, Schiffman JD, Hughes Halbert C, Welch BM.
• Mol Genet Genomic Med. 2020 May 28:e1315. doi: 10.1002/mgg3.1315. Epub ahead of print.

• PMID: 32468681
• PubMed abstract
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• Germline Insights from NGS Somatic Testing: Clinical Challenges and Controversies.
• Matloff ET, Giri VN, Nowak JA, Sotelo J, Silver DP.
• Precision Oncology News. Resources: Webinars. 2020 Jun 1.

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• A systematic literature review of whole exome and genome sequencing population studies of genetic susceptibility to cancer.
• Rotunno M, Barajas R, Clyne M, Hoover E, Simonds NI, Lam TK, Mechanic LE, Goldstein AM, Gillanders E.
• Cancer Epidemiol Biomarkers Prev. 2020 May 28. doi: 10.1158/1055-9965.EPI-19-1551. Epub ahead of print.

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• Constitutional mosaicism for a BRCA2 mutation as a cause of early-onset breast cancer.
• Alhopuro P, Vainionpää R, Anttonen AK, Aittomäki K, Nevanlinna H, Pöyhönen M.
• Fam Cancer. 2020 May 28. doi: 10.1007/s10689-020-00186-1. [Epub ahead of print]

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• How can Australia integrate routine genetic sequencing in oncology: a qualitative study through an implementation science lens.
• O'Shea R, Rankin NM, Kentwell M, Gleeson M, Salmon L, Tucker KM, Lewis S, Taylor N.
• Genet Med. 2020 May 28. doi: 10.1038/s41436-020-0838-x. Epub ahead of print.

• PMID: 32461668
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• Genetic Testing Challenges in Oncology: Missed Mutations Highlight Somatic, Germline Test Difference.
• Ray T.
• Precision Oncology News. 2020 May 26.

• Case report
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• Integrating Genetic and Genomic Testing Into Oncology Practice.
• Domchek SM, Mardis E, Carlisle JW, Owonikoko TK.
• Am Soc Clin Oncol Educ Book. 2020 May;40:e259-e263. doi: 10.1200/EDBK_280607.

• PMID: 32453613
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• Review
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• Volpara Solutions, Ambry Genetics Form Breast Cancer Management Alliance.
• [No author given]
• GenomeWeb. 2020 May 20.

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• The development and evaluation of a nationwide training program for oncology health professionals in the provision of genetic testing for ovarian cancer patients.
• Gleeson M, Kentwell M, Meiser B, Do J, Nevin S, Taylor N, Barlow-Stewart K, Kirk J, James P, Scott CL, Williams R, Gamet K, Burke J, Murphy M, Antill YC, Pearn A, Pachter N, Ebzery C, Poplawski N, Friedlander M, Tucker KM, the Australian Genetic Testing Mainstreaming Collaborative Group.
• Gynecol Oncol. 2020 May 22. pii: S0090-8258(20)31028-3. doi: 10.1016/j.ygyno.2020.05.001. [Epub ahead of print]

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• Mutation prevalence tables for hereditary cancer derived from multi-gene panel testing.
• Hart SN, Polley EC, Yussuf A, Yadav S, Goldgar DE, Hu C, LaDuca H, Smith LP, Fujimoto J, Li S, Couch FJ, Dolinsky JS.
• Hum Mutat. 2020 May 22. doi: 10.1002/humu.24053. Epub ahead of print.

• PMID: 32442341
• PubMed abstract
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• Diagnosing hereditary cancer predisposition in men with prostate cancer.
• Pritzlaff M, Tian Y, Reineke P, Stuenkel AJ, Allen K, Gutierrez S, Jackson M, Dolinsky JS, LaDuca H, Xu J, Black MH, Helfand BT.
• Genet Med. 2020 May 22. doi: 10.1038/s41436-020-0830-5. Epub ahead of print.

• PMID: 32439974
• PubMed abstract

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• Direct-to-consumer misleading information on cancer risks calls for an urgent clarification of health genetic testing performed by commercial companies.
• de Pauw A, Schwartz M, Colas C, Golmard L, Stoppa-Lyonnet D.
• Eur J Cancer. 2020 Jun 1;132:100-103. doi: 10.1016/j.ejca.2020.03.007.

• PMID: 32335476
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• Commentary