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    Special article:

    Is there a duty to reinterpret genetic data? The ethical dimensions.

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    Research news: Universal Genetic Testing in Breast Cancer Further Supported in New Invitae-Led Study. (GenomeWeb)

    Research news: Time for Universal Germline Genetic Testing in Breast Cancer. (Medscape)

    • Reclassification of clinically-detected sequence variants: Framework for genetic clinicians and clinical scientists by CanVIG-UK (Cancer Variant Interpretation Group UK).
    • Loong L, Garrett A, Allen S, Choi S, Durkie M, Callaway A, Drummond J, Burghel GJ, Robinson R, Torr B, Berry IR, Wallace AJ, Eccles DM, Ellard S, Baple E, Evans DG, Woodward ER, Kulkarni A, Lalloo F, Tischkowitz M, Lucassen A, Hanson H, Turnbull C; CanVIG-UK.
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    Gene sequencing in ovarian cancer: continually moving targets.

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    • Germline Variant Spectrum Among African American Men Undergoing Prostate Cancer Germline Testing: Need for Equity in Genetic Testing.
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    • Review
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    Research news: NHS gene testing misses half of people at risk of cancer, study warns. (Sky News)

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    • Chris Evert's ovarian cancer diagnosis highlights the importance of genetic counseling and testing.
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    • FORCE. XRAY. 2022 Feb 8.

    Press: Chris Evert opens up about her stage 1C ovarian cancer diagnosis. (ESPN)

    • Theranostic Interpolation of Genomic Instability in Breast Cancer.
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    Genetic/Familial High-Risk Assessment: Breast, Ovarian, and Pancreatic, Version 2.2021, NCCN Clinical Practice Guidelines in Oncology.

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    News: Tennis Star Chris Evert Teaches Us That Genetic Testing Is a Lifetime Match. (My Gene Counsel)

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    News: Chris Evert's ovarian cancer diagnosis highlights the importance of genetic counseling and testing. (FORCE. XRAY.)

    • A whole-exome case-control association study to characterize the contribution of rare coding variation to pancreatic cancer risk.
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    • BRCA1 Norway: comparison of classification for BRCA1 germline variants detected in families with suspected hereditary breast and ovarian cancer between different laboratories.
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    • Landscape of homologous recombination deficiencies in solid tumours: analyses of two independent genomic datasets.
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    • Germline variant of BRCA1 c.5332G>A has clinical features of hereditary breast and ovarian cancer syndrome.
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    • Genetic Counseling, Screening and Risk-Reducing Surgery in Patients with Primary Breast Cancer and Germline BRCA Mutations: Unmet Needs in Low- and Middle-Income Countries.
    • Moukadem HA, Al Masry A, Atwani RW, Kreidieh F, Khalil LE, Saroufim R, Daouk S, Dalle IA, El Saghir NS.
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    • A BRCA1 Coiled-Coil Domain Variant Disrupting PALB2 Interaction Promotes the Development of Mammary Tumors and Confers a Targetable Defect in Homologous Recombination Repair.
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    • Cancer Res. 2021 Dec 15;81(24):6171-6182. doi: 10.1158/0008-5472.CAN-21-1415. Epub 2021 Sep 21.


    Coiled-Coil Domain: Uncoiling Tumor Suppression by BRCA1.

    • Closing the gap: Systematic integration of multiplexed functional data resolves variants of uncertain significance in BRCA1, TP53, and PTEN.
    • Fayer S, Horton C, Dines JN, Rubin AF, Richardson ME, McGoldrick K, Hernandez F, Pesaran T, Karam R, Shirts BH, Fowler DM, Starita LM.
    • Am J Hum Genet. 2021 Dec 2;108(12):2248-2258. doi: 10.1016/j.ajhg.2021.11.001. Epub 2021 Nov 17.

    Press: Most Genetic Counselors Encounter Discrepant Variant Classifications, Must Work Out Interpretations. (Precision Oncology News)

    • Assessing BRCA1 activity in DNA damage repair using human induced pluripotent stem cells as an approach to assist classification of BRCA1 variants of uncertain significance.
    • Ozgencil M, Barwell J, Tischkowitz M, Izatt L, Kesterton I, Simpson M, Sharpe P, de Sepulveda P, Voisset E, Solomon E.
    • PLoS One. 2021 Dec 2;16(12):e0260852. doi: 10.1371/journal.pone.0260852.
    • Challenges in genetic testing: clinician variant interpretation processes and the impact on clinical care.
    • Berrios C, Hurley EA, Willig L, Thiffault I, Saunders C, Pastinen T, Goggin K, Farrow E.
    • Genet Med. 2021 Dec;23(12):2289-2299. doi: 10.1038/s41436-021-01267-x. Epub 2021 Jul 13.
    • Conference Session Highlight: I'm Not White, Can I Still Have a Mutation?
    • Stallings E, Goldberg D.
    • FORCE. Blog. 2021 Nov 19.
    • Most Genetic Counselors Encounter Discrepant Variant Classifications, Must Work Out Interpretations.
    • Curtin C.
    • Precision Oncology News. Diagnostics. Molecular Diagnostics. 2021 Nov 19.
    • Press, Conference report

    Original research:

    Closing the gap: Systematic integration of multiplexed functional data resolves variants of uncertain significance in BRCA1, TP53, and PTEN.

    • Germline Testing Data Validate Inferences of Mutational Status for Variants Detected From Tumor-Only Sequencing.
    • Jalloul N, Gomy I, Stokes S, Gusev A, Johnson BE, Lindeman NI, Macconaill L, Ganesan S, Garber JE, Khiabanian H.
    • JCO Precis Oncol. 2021 Nov 17;5:PO.21.00279. doi: 10.1200/PO.21.00279.

    Letter, Commentary:

    Inferences of Mutational Status for Variants Detected From Tumor-Only Sequencing-A Quality Assurance Strategy.

    Letter, Reply:

    Reply to T. Ménard.

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    • Review
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    • Germline Predisposition to Prostate Cancer in Diverse Populations.
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    • Review
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    • Understanding BRCA2 Function as a Tumor Suppressor Based on Domain-Specific Activities in DNA Damage Responses.
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    • Reliability of Tumor Testing Compared to Germline Testing for Detecting BRCA1 and BRCA2 Mutations in Patients with Epithelial Ovarian Cancer.
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    • Expanding the search for germline pathogenic variants for breast cancer. How far should we go and how high should we jump? The missed opportunity!
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    • An Algorithm Combining Patient Performance Status, Second Hit Analysis, PROVEAN and Dann Prediction Tools Could Foretell Sensitization to PARP Inhibitors in Digestive, Skin, Ovarian and Breast Cancers.
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    • Prevalence and Spectrum of Germline BRCA1 and BRCA2 Variants of Uncertain Significance in Breast/Ovarian Cancer: Mysterious Signals From the Genome.
    • Fanale D, Fiorino A, Incorvaia L, Dimino A, Filorizzo C, Bono M, Cancelliere D, Calò V, Brando C, Corsini LR, Sciacchitano R, Magrin L, Pivetti A, Pedone E, Madonia G, Cucinella A, Badalamenti G, Russo A, Bazan V.
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    • [Article in Chinese]
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    • Identification of a Splice Variant (c.5074+3A>C) of BRCA1 by RNA Sequencing and TOPO Cloning.
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    • Review
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    • Germline evaluation of patients undergoing tumor genomic profiling: An academic cancer center's experience with implementing a germline review protocol.
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    • Germline genetic testing in breast cancer: Rationale for the testing of all women diagnosed by the age of 60 years and for risk-based testing of those older than 60 years.
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    • Commentary
    • Genetic Testing for Breast and Ovarian Cancer: What Has Changed and What Still Needs To Change?
    • Lyss AP.
    • Medscape. News & Perspective. 2021 Mar 8.

    Original research:

    Time Trends in Receipt of Germline Genetic Testing and Results for Women Diagnosed With Breast Cancer or Ovarian Cancer, 2012-2019.

    • The BRCA1 c.788G > T (NM_007294.4) variant in a high grade serous ovarian cancer (HGSOC) patient: foods for thought.
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    • Mol Biol Rep. 2021 Mar;48(3):2985-2992. doi: 10.1007/s11033-021-06243-x. Epub 2021 Mar 3.
    • Case report
    • Local Laboratory Testing of Germline BRCA Mutations vs. Myriad: A Single-Institution Experience in Korea.
    • Hong J, Lee J, Kwon M, Kim JY, Kim JW, Ahn JS, Im YH, Park YH.
    • Diagnostics (Basel). 2021 Feb 22;11(2):370. doi: 10.3390/diagnostics11020370.
    • Choose and stay on one out of two paths: distinction between clinical versus research genetic testing to identify cancer predisposition syndromes among patients with cancer.
    • Ripperger T, Evans D, Malkin D, Kratz CP.
    • Fam Cancer. 2021 Feb 12. doi: 10.1007/s10689-021-00228-2. Epub ahead of print.
    • Cancer SIGVAR: A semi-automated interpretation tool for germline variants of hereditary cancer-related genes.
    • Li H, Liu S, Wang S, Zeng Q, Chen Y, Fang T, Zhang Y, Zhou Y, Zhang Y, Wang K, Yan Z, Qiang C, Xu M, Chai X, Yuan Y, Huang M, Zhang H, Xiong Y.
    • Hum Mutat. 2021 Feb 10. doi: 10.1002/humu.24177. Epub ahead of print.
    • A likelihood-based approach to assessing frequency of pathogenicity among variants of unknown significance in susceptibility genes.
    • Yang Y, Hong C, Liang JW, Gruber S, Parmigiani G, Idos G, Braun D.
    • Stat Med. 2021 Feb 10;40(3):593-606. doi: 10.1002/sim.8791. Epub 2020 Oct 29.
    • Time Trends in Receipt of Germline Genetic Testing and Results for Women Diagnosed With Breast Cancer or Ovarian Cancer, 2012-2019.
    • Kurian AW, Ward KC, Abrahamse P, Bondarenko I, Hamilton AS, Deapen D, Morrow M, Berek JS, Hofer TP, Katz SJ.
    • J Clin Oncol. 2021 Feb 9:JCO2002785. doi: 10.1200/JCO.20.02785. Epub ahead of print.

    Research news: Genetic Testing for Breast and Ovarian Cancer: What Has Changed and What Still Needs To Change? (Medscape)

    • Gene Screenings Hold Disease Clues, but Unexplained Anomalies Often Raise Fears.
    • Bennett C.
    • KHN [Kaiser Health News]. 2021 Feb 9.

    Press: Ambiguous genetic test results can be unsettling. Worse, they can lead to needless surgeries. (Washington Post)

    Press: My Gene Counsel Quoted in Washington Post and Kaiser Health News. (My Gene Counsel)

    • K3326X and Other C-Terminal BRCA2 Variants Implicated in Hereditary Cancer Syndromes: A Review.
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    • Economic impact of multigene panel testing for hereditary breast and ovarian cancer.
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    • Interpretation of BRCA2 Splicing Variants: A Case Series of Challenging Variant Interpretations and the Importance of Functional RNA Analysis.
    • Nix P, Mundt E, Coffee B, Goossen E, Warf BM, Brown K, Bowles K, Roa B.
    • Fam Cancer. 2021 Jan 20. doi: 10.1007/s10689-020-00224-y. Epub ahead of print.
    • Prevalence and reclassification of BRCA1 and BRCA2 variants in a large, unselected Chinese Han breast cancer cohort.
    • Liu Y, Wang H, Wang X, Liu J, Li J, Wang X, Zhang Y, Bai Z, Zhou Q, Wu Y, Shen Y, Weng X, Liu F, Guo J, Di L, Gires O, Zhang Z, Chen Y, Wang H.
    • J Hematol Oncol. 2021 Jan 18;14(1):18. doi: 10.1186/s13045-020-01010-0.
    • Novel candidates of pathogenic variants of the BRCA1 and BRCA2 genes from a dataset of 3,552 Japanese whole genomes (3.5KJPNv2).
    • Tokunaga H, Iida K, Hozawa A, Ogishima S, Watanabe Y, Shigeta S, Shimada M, Yamaguchi-Kabata Y, Tadaka S, Katsuoka F, Ito S, Kumada K, Hamanaka Y, Fuse N, Kinoshita K, Yamamoto M, Yaegashi N, Yasuda J.
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    • Pathogenicity Assessment of Variants for Breast Cancer Susceptibility Genes Based on BRCAness of Tumor Sample.
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    • Comprehensive evaluation of BRCA1/2 variant interpretation ability among laboratories in China.
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    Letter, Commentary:

    RNA-Seq Analysis Is a Useful Tool in Variant Classification.

    Letter, Reply:

    Reply to R. Karam et al.

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    • Review
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    • Front Oncol. 2020 Oct 2;10:571330. doi: 10.3389/fonc.2020.571330.
    • Discrepancies in Genetic Testing Procedures of BRCA1/2 Mutations: A National Survey Across China.
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    • Functional Characterization of PALB2 Variants of Uncertain Significance: Toward Cancer Risk and Therapy Response Prediction.
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    • Front Mol Biosci. 2020 Sep 16;7:169. doi: 10.3389/fmolb.2020.00169.
    • Comprehensive analysis and ACMG-based classification of CHEK2 variants in hereditary cancer patients.
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    • Hum Mutat. 2020 Sep 9. doi: 10.1002/humu.24110. Epub ahead of print.
    • Genetic Testing Challenges in Oncology: Unnecessary Testing Identifies BRCA2 VUS in 16-Year-Old Girl.
    • Ray T.
    • Precision Oncology News. 2020 Sep 9.
    • Multigene panel testing for hereditary breast and ovarian cancer in the province of Ontario.
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    • Gene panel screening for insight towards breast cancer susceptibility in different ethnicities.
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    • Impact of a Cancer Gene Variant Reclassification Program Over a 20-Year Period.
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    • JCO Precis Oncol. 2020 Aug 27;4:PO.20.00020. doi: 10.1200/PO.20.00020.
    • Early-onset breast cancer in a woman with a germline mobile element insertion resulting in BRCA2 disruption: a case report.
    • Deuitch N, Li ST, Courtney E, Shaw T, Dent R, Tan V, Yackowski L, Torene R, Berkofsky-Fessler W, Ngeow J.
    • Hum Genome Var. 2020 Aug 25;7:24. doi: 10.1038/s41439-020-00111-z.
    • The management of BRCA1 and BRCA2 carriers in Singapore.
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    • BRCA status assessment in epithelial ovarian cancer and the challenge of tumor testing.
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    • Int J Gynecol Cancer. 2020 Aug 4:ijgc-2020-001670. doi: 10.1136/ijgc-2020-001670. Epub ahead of print.


    Germline and Somatic Tumor Testing in Epithelial Ovarian Cancer: ASCO Guideline.

    • Structure-based functional analysis of BRCA1 RING domain variants: Concordance of computational mutagenesis, experimental assay, and clinical data.
    • Masso M, Bansal A, Bansal A, Henderson A.
    • Biophys Chem. 2020 Aug 1;266:106442. doi: 10.1016/j.bpc.2020.106442. Epub ahead of print.
    • Ancestry-specific hereditary cancer panel yields: Moving toward more personalized risk assessment.
    • Roberts ME, Susswein LR, Janice Cheng W, Carter NJ, Carter AC, Klein RT, Hruska KS, Marshall ML.
    • J Genet Couns. 2020 Aug;29(4):598-606. doi: 10.1002/jgc4.1257. Epub 2020 Mar 30.
    • Contralateral Risk-Reducing Mastectomy in Breast Cancer Patients Who Undergo Multigene Panel Testing.
    • Murphy BL, Yi M, Arun BK, Gutierrez Barrera AM, Bedrosian I.
    • Ann Surg Oncol. 2020 Jul 27. doi: 10.1245/s10434-020-08889-6. Epub ahead of print.
    • Racial and Ethnic Disparities in Genetic Testing at a Hereditary Breast and Ovarian Cancer Center.
    • Chapman-Davis E, Zhou ZN, Fields JC, Frey MK, Jordan B, Sapra KJ, Chatterjee-Paer S, Carlson AD, Holcomb KM.
    • J Gen Intern Med. 2020 Jul 27. doi: 10.1007/s11606-020-06064-x. Epub ahead of print.
    • Variant effect on splicing regulatory elements, branchpoint usage, and pseudoexonization: strategies to enhance bioinformatic prediction using hereditary cancer genes as exemplars.
    • Canson D, Glubb D, Spurdle AB.
    • Hum Mutat. 2020 Jul 5. doi: 10.1002/humu.24074. Epub ahead of print.
    • Review
    • Women with inherited genetic mutations for breast cancer do not always receive treatment according to guidelines.
    • Printz C.
    • Cancer. 2020 Jul 1;126(13):2955. doi: 10.1002/cncr.32999.

    Original research:

    Association of Germline Genetic Testing Results With Locoregional and Systemic Therapy in Patients With Breast Cancer.

    • Genetic Counseling, Testing, and Management of HBOC in India: An Expert Consensus Document from Indian Society of Medical and Pediatric Oncology.
    • Malhotra H, Kowtal P, Mehra N, Pramank R, Sarin R, Rajkumar T, Gupta S, Bapna A, Bhattacharyya GS, Gupta S, Maheshwari A, Mannan AU, Reddy Kundur R, Sekhon R, Singhal M, Smruti BK, Sp S, Suryavanshi M, Verma A.
    • JCO Glob Oncol. 2020 Jul;6:991-1008. doi: 10.1200/JGO.19.00381.
    • A Modern Dilemma: How Experts Grapple with Ambiguous Genetic Test Results.
    • Scherr CL, Ross Arguedas AA, Getachew-Smith H, Marshall-Fricker C, Shrestha N, Brooks K, Fischhoff B, Vadaparampil ST.
    • Med Decis Making. 2020 Jul;40(5):655-668. doi: 10.1177/0272989X20935864.
    • Different Interpretations of the Same Genetic Data.
    • SoRelle JA, Gemmell AP, Ross TS.
    • Ann Intern Med. 2020 Jun 30. doi: 10.7326/L20-0192. Epub ahead of print.
    • Letter
    • Characterization and in silico analyses of the BRCA1/2 variants identified in individuals with personal and/or family history of BRCA-related cancers.
    • Pirim D, Kaya N, Yildirim EU, Sag SO, Temel SG.
    • Int J Biol Macromol. 2020 Jun 26:S0141-8130(20)33675-8. doi: 10.1016/j.ijbiomac.2020.06.222. Epub ahead of print.
    • Retrospective reinterpretation and reclassification of BRCA1/2 variants from Chinese population.
    • Li D, Shi Y, Li A, Cao D, Su H, Yang H, Zhi Q, Yang Y, Lan Z, Zhou T, You X, Hu G.
    • Breast Cancer. 2020 Jun 22. doi: 10.1007/s12282-020-01119-7. Epub ahead of print.
    • Secondary Angiosarcoma With C-MYC Amplification Following Prophylactic Bilateral Mastectomy and Autologous Breast Reconstruction: Report of a Case and Review of the Literature.
    • Webb C, Partain N, Koduru P, Hwang H, Sarode VR.
    • Int J Surg Pathol. 2020 Jun 18:1066896920930100. doi: 10.1177/1066896920930100. Epub ahead of print.
    • Case report
    • A comprehensive custom panel evaluation for routine hereditary cancer testing: improving the yield of germline mutation detection.
    • Velázquez C, Lastra E, Avila Cobos F, Abella L, de la Cruz V, Hernando BA, Hernández L, Martínez N, Infante M, Durán M.
    • J Transl Med. 2020 Jun 10;18(1):232. doi: 10.1186/s12967-020-02391-z.
    • Sequencing technology status of BRCA1/2 testing in Latin American Countries.
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    • NPJ Genom Med. 2020 Jun 2;5(1):22. doi: 10.1038/s41525-020-0126-3.
    • Sequencing technology status of BRCA1/2 testing in Latin American Countries.
    • Solano AR, Palmero EI, Delgado L, Carraro DM, Ortíz-López R, Carranza CL, Santamaria C, Cifuentes L, Jara Sosa LE, Toland AE.
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    • Patient perspectives on variant reclassification after cancer susceptibility testing.
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    • Germline and Somatic Tumor Testing in Epithelial Ovarian Cancer: ASCO Guideline.
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    • J Clin Oncol. 2020 Apr 10;38(11):1222-1245. doi: 10.1200/JCO.19.02960. Epub 2020 Jan 27.


    BRCA status assessment in epithelial ovarian cancer and the challenge of tumor testing.

    • Genetic Testing Challenges in Oncology: Patient With BRCA1 VUS Has Prophylactic Surgery.
    • Ray T.
    • Precision Oncology News. 2020 Apr 6.
    • Skipping Nonsense to Maintain Function: The Paradigm of BRCA2 Exon 12.
    • Meulemans L, Mesman RLS, Caputo SM, Krieger S, Guillaud-Bataille M, Caux-Moncoutier V, Léone M, Boutry-Kryza N, Sokolowska J, Révillion F, Delnatte C, Tubeuf H, Soukarieh O, Bonnet-Dorion F, Guibert V, Bronner M, Bourdon V, Lizard S, Vilquin P, Privat M, Drouet A, Grout C, Calléja FMGR, Golmard L, Vrieling H, Stoppa-Lyonnet D, Houdayer C, Frebourg T, Vreeswijk MPG, Martins A, Gaildrat P.
    • Cancer Res. 2020 Apr 1;80(7):1374-1386. doi: 10.1158/0008-5472.CAN-19-2491. Epub 2020 Feb 11.
    • Longitudinal outcomes with cancer multigene panel testing in previously tested BRCA1/2 negative patients.
    • Bradbury AR, Egleston BL, Patrick-Miller LJ, Rustgi N, Brandt A, Brower J, DiGiovanni L, Fetzer D, Berkelbach C, Long JM, Powers J, Stopfer JE, Domchek SM.
    • Clin Genet. 2020 Apr;97(4):601-609. doi: 10.1111/cge.13716.
    • Criteria of the German Consortium for Hereditary Breast and Ovarian Cancer for the Classification of Germline Sequence Variants in Risk Genes for Hereditary Breast and Ovarian Cancer.
    • Wappenschmidt B, Hauke J, Faust U, Niederacher D, Wiesmüller L, Schmidt G, Groß E, Gehrig A, Sutter C, Ramser J, Rump A, Arnold N, Meindl A.
    • Geburtshilfe Frauenheilkd. 2020 Apr;80(4):410-429. doi: 10.1055/a-1110-0909. Epub 2020 Apr 21.
    • NCCN Guidelines Insights: Genetic/Familial High-Risk Assessment: Breast, Ovarian, and Pancreatic, Version 1.2020.
    • Daly MB, Pilarski R, Yurgelun MB, Berry MP, Buys SS, Dickson P, Domchek SM, Elkhanany A, Friedman S, Garber JE, Goggins M, Hutton ML, Khan S, Klein C, Kohlmann W, Kurian AW, Laronga C, Litton JK, Mak JS, Menendez CS, Merajver SD, Norquist BS, Offit K, Pal T, Pederson HJ, Reiser G, Shannon KM, Visvanathan K, Weitzel JN, Wick MJ, Wisinski KB, Dwyer MA, Darlow SD.
    • J Natl Compr Canc Netw. 2020 Apr;18(4):380-391. doi: 10.6004/jnccn.2020.0017.

    Continuing Education course: NCCN Guidelines® Insights - Genetic/Familial High-Risk Assessment: Breast, Ovarian, and Pancreatic, Version 1.2020. (NCCN Continuing Education)

    • The impact of communicating uncertain test results in cancer genetic counseling: A systematic mixed studies review.
    • Medendorp NM, van Maarschalkerweerd PEA, Murugesu L, Daams JG, Smets EMA, Hillen MA.
    • Patient Educ Couns. 2020 Mar 19. pii: S0738-3991(20)30149-X. doi: 10.1016/j.pec.2020.03.015. [Epub ahead of print]
    • Genetics/Familial Risk Assessment for Breast Cancer: Controversies and Evolving Principles.
    • Weitzel JN.
    • National Comprehensive Cancer Network. Continuing Education. 2020 Mar 15.
    • Germline and Somatic BRCA1/2 Mutations in 172 Chinese Women With Epithelial Ovarian Cancer.
    • You Y, Li L, Lu J, Wu H, Wang J, Gao J, Wu M, Liang Z.
    • Front Oncol. 2020 Mar 10;10:295. doi: 10.3389/fonc.2020.00295. eCollection 2020.
    • Variants of uncertain clinical significance in hereditary breast and ovarian cancer genes: best practices in functional analysis for clinical annotation.
    • Monteiro AN, Bouwman P, Kousholt AN, Eccles DM, Millot GA, Masson JY, Schmidt MK, Sharan SK, Scully R, Wiesmüller L, Couch F, Vreeswijk MPG.
    • J Med Genet. 2020 Mar 9. pii: jmedgenet-2019-106368. doi: 10.1136/jmedgenet-2019-106368. [Epub ahead of print]
    • Review
    • Somatic mRNA Analysis of BRCA1 Splice Variants Provides a Direct Theranostic Impact on PARP Inhibitors.
    • Chevalier LM, Billaud A, Fronteau S, Dauvé J, Patsouris A, Verriele V, Morel A.
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    • Association of Germline Genetic Testing Results With Locoregional and Systemic Therapy in Patients With Breast Cancer.
    • Kurian AW, Ward KC, Abrahamse P, Hamilton AS, Deapen D, Morrow M, Jagsi R, Katz SJ.
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    Press: Breast Cancer Care After Genetic Testing Often Doesn’t Follow Guidelines. (Clinical OMICs)

    Research news:

    Women with inherited genetic mutations for breast cancer do not always receive treatment according to guidelines.

    • Diagnostic yield of a custom-designed multi-gene cancer panel in Irish patients with breast cancer.
    • McVeigh ÚM, McVeigh TP, Curran C, Miller N, Morris DW, Kerin MJ.
    • Ir J Med Sci. 2020 Feb 1. doi: 10.1007/s11845-020-02174-x. [Epub ahead of print]
    • Germline and Somatic Tumor Testing in Epithelial Ovarian Cancer: ASCO Guideline.
    • Konstantinopoulos PA, Norquist B, Lacchetti C, Armstrong D, Grisham RN, Goodfellow PJ, Kohn EC, Levine DA, Liu JF, Lu KH, Sparacio D, Annunziata CM.
    • J Clin Oncol. 2020 Jan 27:JCO1902960. doi: 10.1200/JCO.19.02960. [Epub ahead of print]
    • Classifying variants of unknown significance in BRCA1/BRCA2 based on family and personal history.
    • Graber C, Goldgar D.
    • Genetics in Medicine. Genepod. 2020 Jan 20.
    • Podcast

    Original research:

    Classification of variants of uncertain significance in BRCA1 and BRCA2 using personal and family history of cancer from individuals in a large hereditary cancer multigene panel testing cohort.

    • With More Than a Million Records, ClinVar Value Grows as Variant Classification Resource.
    • Ray T.
    • GenomeWeb. 2020 Jan 9.
    • Exploring relatives' perceptions of participation, ethics, and communication in a patient-driven study for hereditary cancer variant reclassification.
    • Tsai GJ, Chen AT, Garrett LT, Burke W, Bowen DJ, Shirts BH.
    • J Genet Couns. 2020 Jan 9. doi: 10.1002/jgc4.1215. [Epub ahead of print]
    • A Genetic Test Led Seven Women in One Family to Have Major Surgery. Then the Odds Changed.
    • Marcus AD.
    • The Wall Street Journal. 2019 Dec 20.
    • Press

    Press: Downgraded Variant. (GenomeWeb)

    • Classification of variants of uncertain significance in BRCA1 and BRCA2 using personal and family history of cancer from individuals in a large hereditary cancer multigene panel testing cohort.
    • Li H, LaDuca H, Pesaran T, Chao EC, Dolinsky JS, Parsons M, Spurdle AB, Polley EC, Shimelis H, Hart SN, Hu C, Couch FJ, Goldgar DE.
    • Genet Med. 2019 Dec 19. doi: 10.1038/s41436-019-0729-1. [Epub ahead of print]

    Podcast: Classifying variants of unknown significance in BRCA1/BRCA2 based on family and personal history (Genetics in Medicine Genepod)

    • Ambry Genetics Gains NYS Approval for Paired RNA, DNA Genetic Test.
    • [No author given]
    • GenomeWeb. 2019 Dec 16.

    Original research:

    Assessment of Diagnostic Outcomes of RNA Genetic Testing for Hereditary Cancer.

    Press: Ambry Genetics Study Finds RNA Testing Can Clarify Role of Variants in Hereditary Cancer Genes. (GenomeWeb)

    • Spliceogenic analysis of BRCA1 c.439T>C (rs794727800) variant by High Resolution Melting Analysis.
    • Minucci A, Mazzuccato G, D'Indinosante M, Di Nardo L, Concolino P, De Bonis M, Urbani A, Scambia G, Fagotti A, Capoluongo E.
    • Mol Biol Rep. 2019 Dec 12. doi: 10.1007/s11033-019-05199-3. [Epub ahead of print]
    • How to facilitate psychosocial adjustment in women tested for hereditary breast or ovarian cancer susceptibility? Insights from network analysis.
    • Brédart A, Dick J, Cano A, Robieux L, De Pauw A, Schmutzler R, Stoppa-Lyonnet D, Dolbeault S, Kop JL.
    • Psychooncology. 2019 Dec 11. doi: 10.1002/pon.5302. [Epub ahead of print]
    • Racial and Ethnic Differences in BRCA1/2 and Multigene Panel Testing Among Young Breast Cancer Patients.
    • Jones T, Trivedi MS, Jiang X, Silverman T, Underhill M, Chung WK, Kukafka R, Crew KD.
    • J Cancer Educ. 2019 Dec 4. doi: 10.1007/s13187-019-01646-8. [Epub ahead of print]

    Research news: Study: Racial and ethnic differences in genetic testing among young breast cancer survivors. (FORCE. XRAYS.)

    • In silico analysis for determining the deleterious nonsynonymous single nucleotide polymorphisms of BRCA genes.
    • Yadegari F, Majidzadeh K.
    • Mol Biol Res Commun. 2019 Dec;8(4):141-150. doi: 10.22099/mbrc.2019.34198.1420.
    • Retesting of women who are negative for a BRCA1 and BRCA2 mutation using a 20-gene panel.
    • Lerner-Ellis J, Sopik V, Wong A, Lázaro C, Narod SA, Charames GS.
    • J Med Genet. 2019 Nov 29. pii: jmedgenet-2019-106403. doi: 10.1136/jmedgenet-2019-106403. [Epub ahead of print]
    • Germline variants in cancer genes in high-risk non-BRCA patients from Puerto Rico.
    • Dutil J, Teer JK, Golubeva V, Yoder S, Tong WL, Arroyo N, Karam R, Echenique M, Matta JL, Monteiro AN.
    • Sci Rep. 2019 Nov 28;9(1):17769. doi: 10.1038/s41598-019-54170-6.
    • From a variant of unknown significance to pathogenic: Reclassification of a large novel duplication in BRCA2 by high-throughput sequencing.
    • van Luttikhuizen JL, Bublitz J, Schubert S, Schmidt G, Hofmann W, Morlot S, Buurman R, Auber B, Schlegelberger B, Steinemann D.
    • Mol Genet Genomic Med. 2019 Nov 13:e1045. doi: 10.1002/mgg3.1045. [Epub ahead of print]
    • Clinicians Struggle to Interpret Genetic Test Results, Even After Education, Study Finds.
    • Curtin C.
    • GenomeWeb. 2019 Nov 8.
    • Comparison of Somatic and Germline Variant Interpretation in Hereditary Cancer Genes.
    • Moody EW, Vagher J, Espinel W, Goldgar D, Hagerty KJ, Gammon A.
    • JCO Precis Oncol. 2019 Dec [2019 Oct 30];3:1-8. doi: 10.1200/PO.19.00144.
    • Ethnic disparities among men with prostate cancer undergoing germline testing.
    • Kwon DH, Borno HT, Cheng HH, Zhou AY, Small EJ.
    • Urol Oncol. 2019 Oct 17. pii: S1078-1439(19)30361-8. doi: 10.1016/j.urolonc.2019.09.010. [Epub ahead of print]
    • Adding RNA-Seq, Ambry Genetics Expects to Reduce VUS Results in Hereditary Cancer Tests.
    • [No author given]
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    Press: Ambry Genetics Study Finds RNA Testing Can Clarify Role of Variants in Hereditary Cancer Genes. (GenomeWeb)

    Press: Ambry Genetics Gains NYS Approval for Paired RNA, DNA Genetic Test. (GenomeWeb)

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    Letter, Reply:

    Reply to M.S. Copur et al, A. Taylor et al, and P.S. Rajagopal et al.

    Original research:

    Underdiagnosis of Hereditary Breast Cancer: Are Genetic Testing Guidelines a Tool or an Obstacle?

    • Caveat Emptor: The Perils of Panel Testing in Hereditary Breast Cancer.
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    Letter, Reply:

    Reply to M.S. Copur et al, A. Taylor et al, and P.S. Rajagopal et al.

    Original research:

    Underdiagnosis of Hereditary Breast Cancer: Are Genetic Testing Guidelines a Tool or an Obstacle?

    • The Time for Mainstreaming Germline Testing for Patients With Breast Cancer Is Now.
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    Letter, Reply:

    Reply to M.S. Copur et al, A. Taylor et al, and P.S. Rajagopal et al.

    Original research:

    Underdiagnosis of Hereditary Breast Cancer: Are Genetic Testing Guidelines a Tool or an Obstacle?

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    Journey's End: the quest for BRCA-like hereditary breast cancer genes is nearly over.

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    • Letter
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    • FORCE. XRAYS. 2019 Mar 25.

    Guideline: Consensus Guideline on Genetic Testing for Hereditary Breast Cancer. (PDF) (American Society of Breast Surgeons.)

    • Quick Uptakes: Taking the Uncertainty Out of Interpreting BRCA Variants.
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    BRCA Challenge: BRCA Exchange as a global resource for variants in BRCA1 and BRCA2.

    • Ambry Researchers Report Consequences of RNA-Based Variant Reclassification at ACMG.
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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.

    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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    • The influence of BRCA variants of unknown significance on cancer risk management decision-making.
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    Clinical significance of variants of unknown significances in BRCA genes.

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    • Underdiagnosis of Hereditary Breast Cancer: Are Genetic Testing Guidelines a Tool or an Obstacle?
    • Beitsch PD, Whitworth PW, Hughes K, Patel R, Rosen B, Compagnoni G, Baron P, Simmons R, Smith LA, Grady I, Kinney M, Coomer C, Barbosa K, Holmes DR, Brown E, Gold L, Clark P, Riley L, Lyons S, Ruiz A, Kahn S, MacDonald H, Curcio L, Hardwick MK, Yang S, Esplin ED, Nussbaum RL.
    • J Clin Oncol. 2019 Feb 20;37(6):453-460. doi: 10.1200/JCO.18.01631. Epub 2018 Dec 7.


    Advances in Genetic Testing in Patients With Breast Cancer, High-Quality Decision Making, and Responsible Resource Allocation.

    Letter, Commentary:

    Should All Patients With a Diagnosis of Breast Cancer Undergo Expanded Panel Testing?

    Letter, Commentary:

    Caveat Emptor: The Perils of Panel Testing in Hereditary Breast Cancer.

    Letter, Commentary:

    The Time for Mainstreaming Germline Testing for Patients With Breast Cancer Is Now.

    Letter, Reply:

    Reply to M.S. Copur et al, A. Taylor et al, and P.S. Rajagopal et al.

    Press: Genetic Testing Misses Half of Women at Risk for Breast Cancer. (Medscape Oncology)

    Commentary: Breast Cancer Genetic Testing Guidelines 'Simply Are Not Effective'. (Medscape Oncology)

    • Consensus Guideline on Genetic Testing for Hereditary Breast Cancer.
    • Manahan ER, Sebastian M, Hughes KS, Boughey JC, Kuerer HM, Euhus DM, Robson ME, Boolbol SK, Arun BK, Taylor WA.
    • American Society of Breast Surgeons. 2019 Feb 10.

    Press: ASBrS Calls for Genetic Testing for All Breast Cancer Patients. (Medscape Oncology)

    News: Breast surgeons recommend genetic testing for all breast cancer patients. (FORCE. XRAYS.)

    • The impact of variant classification on the clinical management of hereditary cancer syndromes.
    • Turner SA, Rao SK, Morgan RH, Vnencak-Jones CL, Wiesner GL.
    • Genet Med. 2019 Feb;21(2):426-430. doi: 10.1038/s41436-018-0063-z. Epub 2018 Jun 6.
    • [Hereditary predisposition to breast cancer (1): genetics].
    • Cohen-Haguenauer O.
    • Med Sci (Paris). 2019 Feb;35(2):138-151. doi: 10.1051/medsci/2019003. Epub 2019 Feb 18.
    • The effects of genomic germline variant reclassification on clinical cancer care.
    • Slavin TP, Manjarrez S, Pritchard CC, Gray S, Weitzel JN.
    • Oncotarget. 2019 Jan 11;10(4):417-423. doi: 10.18632/oncotarget.26501. eCollection 2019 Jan 11.
    • Population and breast cancer patients' analysis reveals the diversity of genomic variation of the BRCA genes in the Mexican population.
    • Fernández-Lopez JC, Romero-Córdoba S, Rebollar-Vega R, Alfaro-Ruiz LA, Jiménez-Morales S, Beltrán-Anaya F, Arellano-Llamas R, Cedro-Tanda A, Rios-Romero M, Ramirez-Florencio M, Bautista-Piña V, Dominguez-Reyes C, Villegas-Carlos F, Tenorio-Torres A, Hidalgo-Miranda A.
    • Hum Genomics. 2019 Jan 10;13(1):3. doi: 10.1186/s40246-018-0188-9.
    • BRCA mutations: is everything said?
    • López-Urrutia E, Salazar-Rojas V, Brito-Elías L, Coca-González M, Silva-García J, Sánchez-Marín D, Campos-Parra AD, Pérez-Plasencia C.
    • Breast Cancer Res Treat. 2019 Jan;173(1):49-54. doi: 10.1007/s10549-018-4986-5. Epub 2018 Oct 6.
    • Review
    • Genetic counselling and testing of susceptibility genes for therapeutic decision-making in breast cancer-an European consensus statement and expert recommendations.
    • Singer CF, Balmaña J, Bürki N, Delaloge S, Filieri ME, Gerdes AM, Grindedal EM, Han S, Johansson O, Kaufman B, Krajc M, Loman N, Olah E, Paluch-Shimon S, Plavetic ND, Pohlodek K, Rhiem K, Teixeira M, Evans DG.
    • Eur J Cancer. 2019 Jan;106:54-60. doi: 10.1016/j.ejca.2018.10.007. Epub 2018 Nov 22.
    • Physician interpretation of variants of uncertain significance.
    • Macklin SK, Jackson JL, Atwal PS, Hines SL.
    • Fam Cancer. 2019 Jan;18(1):121-126. doi: 10.1007/s10689-018-0086-2.
    • Combining Homologous Recombination and Phosphopeptide-binding Data to Predict the Impact of BRCA1 BRCT Variants on Cancer Risk.
    • Petitalot A, Dardillac E, Jacquet E, Nhiri N, Guirouilh-Barbat J, Julien P, Bouazzaoui I, Bonte D, Feunteun J, Schnell JA, Lafitte P, Aude JC, Noguès C, Rouleau E, Lidereau R, Lopez BS, Zinn-Justin S, Caputo SM; UNICANCER Genetic Group BRCA network.
    • Mol Cancer Res. 2019 Jan;17(1):54-69. doi: 10.1158/1541-7786.MCR-17-0357. Epub 2018 Sep 26.
    • BRCA Challenge: BRCA Exchange as a global resource for variants in BRCA1 and BRCA2.
    • Cline MS, Liao RG, Parsons MT, Paten B, Alquaddoomi F, Antoniou A, Baxter S, Brody L, Cook-Deegan R, Coffin A, Couch FJ, Craft B, Currie R, Dlott CC, Dolman L, den Dunnen JT, Dyke SOM, Domchek SM, Easton D, Fischmann Z, Foulkes WD, Garber J, Goldgar D, Goldman MJ, Goodhand P, Harrison S, Haussler D, Kato K, Knoppers B, Markello C, Nussbaum R, Offit K, Plon SE, Rashbass J, Rehm HL, Robson M, Rubinstein WS, Stoppa-Lyonnet D, Tavtigian S, Thorogood A, Zhang C, Zimmermann M; BRCA Challenge Authors, Burn J, Chanock S, Rätsch G, Spurdle AB.
    • PLoS Genet. 2018 Dec 26;14(12):e1007752. doi: 10.1371/journal.pgen.1007752. eCollection 2018 Dec.

    Research news:

    Quick Uptakes: Taking the Uncertainty Out of Interpreting BRCA Variants.

    • Prevalence of pathogenic variants and variants of unknown significance in patients at high risk of breast cancer: A systematic review and meta-analysis of gene-panel data.
    • van Marcke C, Collard A, Vikkula M, Duhoux FP.
    • Crit Rev Oncol Hematol. 2018 Dec;132:138-144. doi: 10.1016/j.critrevonc.2018.09.009. Epub 2018 Sep 14.
    • Review
    • Landscape of pathogenic variations in a panel of 34 genes and cancer risk estimation from 5131 HBOC families.
    • Castéra L, Harter V, Muller E, Krieger S, Goardon N, Ricou A, Rousselin A, Paimparay G, Legros A, Bruet O, Quesnelle C, Domin F, San C, Brault B, Fouillet R, Abadie C, Béra O, Berthet P; French Exome Project Consortium, Frébourg T, Vaur D.
    • Genet Med. 2018 Dec;20(12):1677-1686. doi: 10.1038/s41436-018-0005-9. Epub 2018 Jul 10.
    • Reclassification of BRCA1 and BRCA2 variants of uncertain significance: a multifactorial analysis of multicentre prospective cohort.
    • Lee JS, Oh S, Park SK, Lee MH, Lee JW, Kim SW, Son BH, Noh DY, Lee JE, Park HL, Kim MJ, Cho SI, Lee YK, Park SS, Seong MW.
    • J Med Genet. 2018 Dec;55(12):794-802. doi: 10.1136/jmedgenet-2018-105565. Epub 2018 Nov 10.
    • Big Data Sharing: A Crucial Democratic Issue for Genomic Medicine.
    • Derbez B.
    • Front Public Health. 2018 Nov 28;6:334. doi: 10.3389/fpubh.2018.00334. eCollection 2018.
    • A narrative overview of the patients’ outcomes after multigene cancer panel testing: Thorough evaluation of its implications for genetic counselling.
    • Estebana I, Lopez-Fernandez A, Balmaña J.
    • Eur J Med Genet. 2018 Nov 23. pii: S1769-7212(18)30422-1. doi: 10.1016/j.ejmg.2018.11.027. [Epub ahead of print]
    • Review, Comment
    • Non-Coding Variants in BRCA1 and BRCA2 Genes: Potential Impact on Breast and Ovarian Cancer Predisposition.
    • Santana Dos Santos E, Lallemand F, Burke L, Stoppa-Lyonnet D, Brown M, Caputo SM, Rouleau E.
    • Cancers (Basel). 2018 Nov 16;10(11). pii: E453. doi: 10.3390/cancers10110453.
    • Hereditary cancer gene panel test reports: wide heterogeneity suggests need for standardization.
    • Makhnoon S, Shirts BH, Bowen DJ, Fullerton SM.
    • Genet Med. 2018 Nov;20(11):1438-1445. doi: 10.1038/gim.2018.23. Epub 2018 Mar 1.
    • Specifications of the ACMG/AMP variant curation guidelines for the analysis of germline CDH1 sequence variants.
    • Lee K, Krempely K, Roberts ME, Anderson MJ, Carneiro F, Chao E, Dixon K, Figueiredo J, Ghosh R, Huntsman D, Kaurah P, Kesserwan C, Landrith T, Li S, Mensenkamp AR, Oliveira C, Pardo C, Pesaran T, Richardson M, Slavin TP, Spurdle AB, Trapp M, Witkowski L, Yi CS, Zhang L, Plon SE, Schrader KA, Karam R.
    • Hum Mutat. 2018 Nov;39(11):1553-1568. doi: 10.1002/humu.23650.
    • Association of Germline Genetic Test Type and Results With Patient Cancer Worry After Diagnosis of Breast Cancer.
    • Katz SJ, Ward KC, Hamilton AS, Abrahamse P, Hawley ST, Kurian AW.
    • JCO Precis Oncol. 2018 Nov;2018. doi: 10.1200/PO.18.00225. Epub 2018 Dec 19.

    Research news: Genetic testing does not cause undue worry for breast cancer patients. (Rogel Cancer Center. Michigan Medicine)

    Press: Multi-Gene Panel Breast Cancer Tests Don't Faze Women. (Medscape Oncology)

    • BRCA1/2 mutations are not a common cause of malignant melanoma in the Polish population.
    • Dębniak T, Scott RJ, Górski B, Masojć B, Kram A, Maleszka R, Cybulski C, Paszkowska-Szczur K, Kashyap A, Murawa D, Malińska K, Kiedrowicz M, Rogoża-Janiszewska E, Rudnicka H, Deptuła J, Domagała P, Kluźniak W, Lener MR, Lubiński J.
    • PLoS One. 2018 Oct 4;13(10):e0204768. doi: 10.1371/journal.pone.0204768. eCollection 2018.
    • Prospective Study of Cancer Genetic Variants: Variation in Rate of Reclassification by Ancestry.
    • Slavin TP, Van Tongeren LR, Behrendt CE, Solomon I, Rybak C, Nehoray B, Kuzmich L, Niell-Swiller M, Blazer KR, Tao S, Yang K, Culver JO, Sand S, Castillo D, Herzog J, Gray SW, Weitzel JN.
    • J Natl Cancer Inst. 2018 Oct 1;110(10):1059-1066. doi: 10.1093/jnci/djy027.

    Introductory article, Editorial:

    The Ancestral Pace of Variant Reclassification.

    Full text: Prospective Study of Cancer Genetic Variants — Variation in Rate of Reclassification by Ancestry (Medscape Oncology)

    • Accurate classification of BRCA1 variants with saturation genome editing.
    • Findlay GM, Daza RM, Martin B, Zhang MD, Leith AP, Gasperini M, Janizek JD, Huang X, Starita LM, Shendure J4.
    • Nature. 2018 Oct;562(7726):217-222. doi: 10.1038/s41586-018-0461-z. Epub 2018 Sep 12.

    Research News: Gene editing reveals the effect of thousands of variants in a key cancer gene (Nature)

    Research News: A CRISPR Approach for Accurately Classifying BRCA1 Variants. (Medscape Oncology)

    Research News: A new method for determining whether genetic variants in BRCA1 increase cancer risk. (FORCE XRAYS)

    Research news:

    Technique Pinpoints Oncogenic BRCA1 Mutations.

    • Prevalence of Variant Reclassification Following Hereditary Cancer Genetic Testing.
    • Mersch J, Brown N, Pirzadeh-Miller S, Mundt E, Cox HC, Brown K, Aston M, Esterling L, Manley S, Ross T.
    • JAMA. 2018 Sep 25;320(12):1266-1274. doi: 10.1001/jama.2018.13152.


    Making Sense of the Genome Remains a Work in Progress


    Multitiered Questions Regarding Multigene Testing for Cancer Susceptibility.

    • Dealing With BRCA1/2 Unclassified Variants in a Cancer Genetics Clinic: Does Cosegregation Analysis Help?
    • Zuntini R, Ferrari S, Bonora E, Buscherini F, Bertonazzi B, Grippa M, Godino L, Miccoli S, Turchetti D.
    • Front Genet. 2018 Sep 11;9:378. doi: 10.3389/fgene.2018.00378. eCollection 2018.
    • Beyond BRCA: A Case Series Examining the Advent of Multigene Panel Testing.
    • Reap L, Ahsan S, Saleh M.
    • Clin Breast Cancer. 2018 Aug;18(4):e431-e439. doi: 10.1016/j.clbc.2018.03.015. Epub 2018 Apr 6.
    • Breast cancer in the GCC countries: A focus on BRCA1/2 and non-BRCA1/2 genes.
    • Rahman S, Zayed H.
    • Gene. 2018 Aug 20;668:73-76. doi: 10.1016/j.gene.2018.05.045. Epub 2018 May 17.
    • Review
    • Managing Variant Interpretation Discrepancies in Hereditary Cancer: Clinical Practice, Concerns, and Desired Resources.
    • Zirkelbach E, Hashmi S, Ramdaney A, Dunnington L, Ashfaq M, Nugent EK, Wilson K.
    • J Genet Couns. 2018 Aug;27(4):761-769. doi: 10.1007/s10897-017-0184-6. Epub 2017 Dec 20.
    • From the laboratory to the clinic: sharing BRCA VUS reclassification tools with practicing genetics professionals.
    • Augusto BM, Lake P, Scherr CL, Couch FJ, Lindor NM, Vadaparampil ST.
    • J Community Genet. 2018 Jul;9(3):209-215. doi: 10.1007/s12687-017-0343-3. Epub 2017 Nov 9.
    • Heterogeneity and Uncertainties Specific to Genome-Based Health Technological Assessments.
    • Petelin L, Liew D, Mitchell G, James PA, Trainer AH.
    • Value Health. 2018 Jul;21(7):891-893. doi: 10.1016/j.jval.2018.02.009. Epub 2018 May 16.
    • Letter

    A Multigene Test Could Cost-Effectively Help Extend Life Expectancy for Women at Risk of Hereditary Breast Cancer.


    A multigene test could cost-effectively help extend life expectancy for women at risk of hereditary breast cancer-Reply to letter to the editor by Petelin et al.

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

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

    • Family specific genetic predisposition to breast cancer: results from Tunisian whole exome sequenced breast cancer cases.
    • Hamdi Y, Boujemaa M, Ben Rekaya M, Ben Hamda C, Mighri N, El Benna H, Mejri N, Labidi S, Daoud N, Naouali C, Messaoud O, Chargui M, Ghedira K, Boubaker MS, Mrad R, Boussen H, Abdelhak S; PEC Consortium.
    • J Transl Med. 2018 Jun 7;16(1):158. doi: 10.1186/s12967-018-1504-9.
    • Contralateral prophylactic mastectomy rate and predictive factors among patients with breast cancer who underwent multigene panel testing for hereditary cancer.
    • Elsayegh N, Webster RD, Gutierrez Barrera AM, Lin H, Kuerer HM, Litton JK, Bedrosian I, Arun BK.
    • Cancer Med. 2018 Jun;7(6):2718-2726. doi: 10.1002/cam4.1519. Epub 2018 May 7.
    • Complex Landscape of Germline Variants in Brazilian Patients With Hereditary and Early Onset Breast Cancer.
    • Torrezan GT, de Almeida FGDSR, Figueiredo MCP, Barros BDF, de Paula CAA, Valieris R, de Souza JES, Ramalho RF, da Silva FCC, Ferreira EN, de Nóbrega AF, Felicio PS, Achatz MI, de Souza SJ, Palmero EI, Carraro DM.
    • Front Genet. 2018 May 7;9:161. doi: 10.3389/fgene.2018.00161. eCollection 2018.
    • Risk management decisions in women with BRCA1 and BRCA2 mutations.
    • Morgan R, Brown A, Hamman KJ, Sampson J, Naik A, Massimino K.
    • Am J Surg. 2018 May;215(5):899-903. doi: 10.1016/j.amjsurg.2018.02.010. Epub 2018 Feb 13.
    • Loss of Heterozygosity in BRCA1 and BRCA2 Genes in Patients with Ovarian Cancer and Probability of Its Use for Clinical Classification of Variations.
    • Kechin AA, Boyarskikh UA, Ermolenko NA, Tyulyandina AS, Lazareva DG, Avdalyan AM, Tyulyandin SA, Kushlinskii NE, Filipenko ML.
    • Bull Exp Biol Med. 2018 May;165(1):94-100. doi: 10.1007/s10517-018-4107-9. Epub 2018 May 24.
    • BRCA1/2 germline missense mutations: a systematic review.
    • Corso G, Feroce I, Intra M, Toesca A, Magnoni F, Sargenti M, Naninato P, Caldarella P, Pagani G, Vento A, Veronesi P, Bonanni B, Galimberti V.
    • Eur J Cancer Prev. 2018 May;27(3):279-286. doi: 10.1097/CEJ.0000000000000337.
    • Review
    • Prevalence and Spectrum of BRCA1/2 Germline Mutations in Women with Breast Cancer in China Based on Next-Generation Sequencing.
    • Liang Y, Yang X, Li H, Zhu A, Guo Z, Li M.
    • Med Sci Monit. 2018 Apr 23;24:2465-2475.
    • Pathogenic Germline Variants in 10,389 Adult Cancers.
    • Huang KL, Mashl RJ, Wu Y, Ritter DI, Wang J, Oh C, Paczkowska M, Reynolds S, Wyczalkowski MA, Oak N, Scott AD, Krassowski M, Cherniack AD, Houlahan KE, Jayasinghe R, Wang LB, Zhou DC, Liu D, Cao S, Kim YW, Koire A, McMichael JF, Hucthagowder V, Kim TB, Hahn A, Wang C, McLellan MD, Al-Mulla F, Johnson KJ; Cancer Genome Atlas Research Network, Lichtarge O, Boutros PC, Raphael B, Lazar AJ, Zhang W, Wendl MC, Govindan R, Jain S, Wheeler D, Kulkarni S, Dipersio JF, Reimand J, Meric-Bernstam F, Chen K, Shmulevich I, Plon SE, Chen F, Ding L.
    • Cell. 2018 Apr 5;173(2):355-370.e14. doi: 10.1016/j.cell.2018.03.039.
    • Full in-frame exon 3 skipping of BRCA2 confers high risk of breast and/or ovarian cancer.
    • Caputo SM, Léone M, Damiola F, Ehlen A, Carreira A, Gaidrat P, Martins A, Brandão RD, Peixoto A, Vega A, Houdayer C, Delnatte C, Bronner M, Muller D, Castera L, Guillaud-Bataille M, Søkilde I, Uhrhammer N, Demontety S, Tubeuf H, Castelain G; French COVAR group collaborators, Jensen UB, Petitalot A, Krieger S, Lefol C, Moncoutier V, Boutry-Kryza N, Nielsen HR, Sinilnikova O, Stoppa-Lyonnet D, Spurdle AB, Teixeira MR, Coulet F, Thomassen M, Rouleau E.
    • Oncotarget. 2018 Apr 3;9(25):17334-17348. doi: 10.18632/oncotarget.24671. eCollection 2018 Apr 3.
    • Impact of Multigene Panel Testing on Surgical Decision Making in Breast Cancer Patients.
    • Pederson HJ, Gopalakrishnan D, Noss R, Yanda C, Eng C, Grobmyer SR.
    • J Am Coll Surg. 2018 Apr;226(4):560-565. doi: 10.1016/j.jamcollsurg.2017.12.037. Epub 2018 Jan 31.
    • Performance of in silico prediction tools for the classification of rare BRCA1/2 missense variants in clinical diagnostics.
    • Ernst C, Hahnen E, Engel C, Nothnagel M, Weber J, Schmutzler RK, Hauke J.
    • BMC Med Genomics. 2018 Mar 27;11(1):35. doi: 10.1186/s12920-018-0353-y.
    • 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]


    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)

    • Data sharing as a national quality improvement program: reporting on BRCA1 and BRCA2 variant-interpretation comparisons through the Canadian Open Genetics Repository (COGR).
    • Lebo MS, Zakoor KR, Chun K, Speevak MD, Waye JS, McCready E, Parboosingh JS, Lamont RE, Feilotter H, Bosdet I, Tucker T, Young S, Karsan A, Charames GS, Agatep R, Spriggs EL, Chisholm C, Vasli N, Daoud H, Jarinova O, Tomaszewski R, Hume S, Taylor S, Akbari MR, Lerner-Ellis J; Canadian Open Genetics Repository Working Group.
    • Genet Med. 2018 Mar;20(3):294-302. doi: 10.1038/gim.2017.80. Epub 2017 Jul 20.
    • Factors influencing the decision to share cancer genetic results among family members: an in-depth interview study of women in an Asian setting.
    • Li ST, Sun S, Lie D, Met-Domestici M, Courtney E, Menon S, Lim GH, Ngeow J.
    • Psychooncology. 2018 Mar;27(3):998-1004. doi: 10.1002/pon.4627. Epub 2018 Jan 24.
    • Clinical testing of BRCA1 and BRCA2: a worldwide snapshot of technological practices.
    • Toland AE, Forman A, Couch FJ, Culver JO, Eccles DM, Foulkes WD, Hogervorst FBL, Houdayer C, Levy-Lahad E, Monteiro AN, Neuhausen SL, Plon SE, Sharan SK, Spurdle AB, Szabo C, Brody LC; BIC Steering Committee.
    • NPJ Genom Med. 2018 Feb 15;3:7. doi: 10.1038/s41525-018-0046-7. eCollection 2018.
    • Population-Based Genetic Testing for BRCA1 and BRCA2.
    • Narod S, Akbari MR.
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    • Letter


    Genetic Testing: What Problem Are We Trying to Solve?

    National Estimates of Genetic Testing in Women With a History of Breast or Ovarian Cancer.

    Letter, Comment:

    Reply to S. Nakamura et al and S. Narod et al.

    • Assessment of the Clinical Relevance of BRCA2 Missense Variants by Functional and Computational Approaches.
    • Guidugli L, Shimelis H, Masica DL, Pankratz VS, Lipton GB, Singh N, Hu C, Monteiro ANA, Lindor NM, Goldgar DE, Karchin R, Iversen ES, Couch FJ.
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    • Changes in classification of genetic variants in BRCA1 and BRCA2.
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    • Racial/ethnic differences in multiple-gene sequencing results for hereditary cancer risk.
    • Caswell-Jin JL, Gupta T, Hall E, Petrovchich IM, Mills MA, Kingham KE, Koff R, Chun NM, Levonian P, Lebensohn AP, Ford JM, Kurian AW.
    • Genet Med. 2018 Feb;20(2):234-239. doi: 10.1038/gim.2017.96. Epub 2017 Jul 27.
    • Cancer Genetic Counseling and Testing: Perspectives of Epithelial Ovarian Cancer Patients and Gynecologic Oncology Healthcare Providers.
    • Liang MI, Wong DH, Walsh CS, Farias-Eisner R, Cohen JG.
    • J Genet Couns. 2018 Feb;27(1):177-186. doi: 10.1007/s10897-017-0135-2. Epub 2017 Aug 7.
    • Men seeking counselling in a Breast Cancer Risk Evaluation Clinic.
    • Freitas AC1, Opinião A, Fragoso S, Nunes H, Santos M, Clara A, Bento S, Luis A, Silva J, Moura C, Filipe B, Machado P, Santos S, André S, Rodrigues P, Parreira J, Vaz F.
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    • Comparison of Ion Personal Genome Machine Platforms for the Detection of Variants in BRCA1 and BRCA2.
    • Hwang SM, Lee KC, Lee MS, Park KU.
    • Cancer Res Treat. 2018 Jan;50(1):255-264. doi: 10.4143/crt.2017.062. Epub 2017 Apr 7.
    • Surgical Findings and Outcomes in Premenopausal Breast Cancer Patients Undergoing Oophorectomy: A Multicenter Review From the Society of Gynecologic Surgeons Fellows Pelvic Research Network.
    • Harvey LFB, Abramson VG, Alvarez J, DeStephano C, Hur HC, Lee K, Mattingly P, Park B, Piszczek C, Seifi F, Stuparich M, Yunker A.
    • J Minim Invasive Gynecol. 2018 Jan;25(1):111-115. doi: 10.1016/j.jmig.2017.08.643. Epub 2017 Aug 15.
    • SABCS 2017 pathology: from bench to bedside.
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    • Complexities of Variant Classification in Clinical Hereditary Cancer Genetic Testing.
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    • [No author given]
    • My Gene Counsel. 2017 Nov 30.
    • BRCA1/2 missense mutations and the value of in-silico analyses.
    • Sadowski CE, Kohlstedt D, Meisel C, Keller K, Becker K, Mackenroth L, Rump A, Schröck E, Wimberger P, Kast K.
    • Eur J Med Genet. 2017 Nov;60(11):572-577. doi: 10.1016/j.ejmg.2017.08.005. Epub 2017 Aug 12.
    • DNA repair-related functional assays for the classification of BRCA1 and BRCA2 variants: a critical review and needs assessment.
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    • Genetic Testing: Challenges and Changes in Testing for Hereditary Cancer Syndromes.
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    • Clin J Oncol Nurs. 2017 Oct 1;21(5):589-598. doi: 10.1188/17.CJON.589-598.
    • Clinical Decision-Making in Patients with Variant of Uncertain Significance in BRCA1 or BRCA2 Genes.
    • Welsh JL, Hoskin TL, Day CN, Thomas AS, Cogswell JA, Couch FJ, Boughey JC.
    • Ann Surg Oncol. 2017 Oct;24(10):3067-3072. doi: 10.1245/s10434-017-5959-3. Epub 2017 Aug 1.
    • Impact of Panel Gene Testing for Hereditary Breast and Ovarian Cancer on Patients.
    • Lumish HS, Steinfeld H, Koval C, Russo D, Levinson E, Wynn J, Duong J, Chung WK.
    • J Genet Couns. 2017 Oct;26(5):1116-1129. doi: 10.1007/s10897-017-0090-y. Epub 2017 Mar 29.


    Anxiety and Hereditary Testing Results.

    Letter, Reply:

    Response to Dr. Sorscher.

    • Anxiety and Hereditary Testing Results.
    • Sorscher S.
    • J Genet Couns. 2017 Oct;26(5):1162–1163. doi: 10.1007/s10897-017-0109-4. Epub 2017 May 24.
    • Letter

    Impact of Panel Gene Testing for Hereditary Breast and Ovarian Cancer on Patients.

    Letter, Reply:

    Response to Dr. Sorscher.

    • Application of Panel-Based Tests for Inherited Risk of Cancer.
    • Shah PD, Nathanson KL.
    • Annu Rev Genomics Hum Genet. 2017 Aug 31;18:201-227. doi: 10.1146/annurev-genom-091416-035305. Epub 2017 May 15.
    • Review
    • A comparative study of germline BRCA1 and BRCA2 mutation screening methods in use in 20 European clinical diagnostic laboratories.
    • Ellison G, Wallace A, Kohlmann A, Patton S.
    • Br J Cancer. 2017 Aug 22;117(5):710-716. doi: 10.1038/bjc.2017.223. Epub 2017 Jul 27.
    • Contribution of germline mutations in cancer predisposition genes to tumor etiology in young women diagnosed with invasive breast cancer.
    • Rummel SK, Lovejoy L, Shriver CD, Ellsworth RE.
    • Breast Cancer Res Treat. 2017 Aug;164(3):593-601. doi: 10.1007/s10549-017-4291-8. Epub 2017 May 13.
    • Next-Generation Sequencing in Order to Better Characterize a BRCA Variant of Uncertain Significance.
    • Sorscher S, Ramkissoon S.
    • Case Rep Oncol. 2017 Jul 11;10(2):634-637. doi: 10.1159/000478005. eCollection 2017 May-Aug.
    • Gaps in Incorporating Germline Genetic Testing Into Treatment Decision-Making for Early-Stage Breast Cancer.
    • Kurian AW, Li Y, Hamilton AS, Ward KC, Hawley ST, Morrow M, McLeod MC, Jagsi R, Katz SJ.
    • J Clin Oncol. 2017 Jul 10;35(20):2232-2239. doi: 10.1200/JCO.2016.71.6480. Epub 2017 Apr 12.

    Press: Lack of Understanding of Genetic Breast Cancer Testing. (Medscape)

    • Consistency of BRCA1 and BRCA2 Variant Classifications Among Clinical Diagnostic Laboratories.
    • Lincoln SE, Yang S, Cline MS, Kobayashi Y, Zhang C, Topper S, Haussler D, Paten B, Nussbaum RL.
    • JCO Precis Oncol. 2017 Jul;1. doi: 10.1200/PO.16.00020. Epub 2017 Apr 11.
    • Clinical Variant Classification: A Comparison of Public Databases and a Commercial Testing Laboratory.
    • Gradishar W, Johnson K, Brown K, Mundt E, Manley S.
    • Oncologist. 2017 Jul;22(7):797-803. doi: 10.1634/theoncologist.2016-0431. Epub 2017 Apr 13.

    Letter, Comment:

    ClinVar Is a Critical Resource to Advance Variant Interpretation.

    Letter, Reply:

    In Reply.

    • 4 Years Post-Gene Patents: How Has Life Changed In The Genomics World?
    • [No author given]
    • My Gene Counsel. 2017 Jun 13.
    • Women at familial risk of breast cancer electing for prophylactic mastectomy: frequencies, procedures, and decision-making characteristics.
    • Schott S, Vetter L, Keller M, Bruckner T, Golatta M, Eismann S, Dikow N, Evers C, Sohn C, Heil J.
    • Arch Gynecol Obstet. 2017 Jun;295(6):1451-1458. doi: 10.1007/s00404-017-4376-y. Epub 2017 Apr 24.
    • Information Topics of Greatest Interest for Return of Genome Sequencing Results among Women Diagnosed with Breast Cancer at a Young Age.
    • Seo J, Ivanovich J, Goodman MS, Biesecker BB, Kaphingst KA.
    • J Genet Couns. 2017 Jun;26(3):511-521. doi: 10.1007/s10897-016-0006-2. Epub 2016 Aug 20.
    • Myriad take two: Can genomic databases remain secret?
    • Guerrini CJ, McGuire AL, Majumder MA.
    • Science. 2017 May 12;356(6338):586-587. doi: 10.1126/science.aal3224.
    • Commentary
    • [China expert consensus on BRCA variant interpretation].
    • Panel members of China expert consensus on BRCA variant interpretation.
    • Zhonghua Bing Li Xue Za Zhi. 2017 May 8;46(5):293-297. doi: 10.3760/cma.j.issn.0529-5807.2017.05.002.
    • [Article in Chinese]
    • Next-generation sequencing of BRCA1/2 in breast cancer patients: potential effects on clinical decision-making using rapid, high-accuracy genetic results.
    • Park HS, Park SJ, Kim JY, Kim S, Ryu J, Sohn J, Park S, Kim GM, Hwang IS, Choi JR, Kim SI.
    • Ann Surg Treat Res. 2017 May;92(5):331-339. doi: 10.4174/astr.2017.92.5.331. Epub 2017 Apr 27.
    • Comparison of Clinical Outcomes of BRCA1/2 Pathologic Mutation, Variants of Unknown Significance, or Wild Type Epithelial Ovarian Cancer Patients.
    • Eoh KJ, Park HS, Park JS, Lee ST, Han J, Lee JY, Kim SW, Kim S, Kim YT, Nam EJ.
    • Cancer Res Treat. 2017 Apr;49(2):408-415. doi: 10.4143/crt.2016.135. Epub 2016 Jul 27.
    • Second Opinions From Medical Oncologists for Early-Stage Breast Cancer: Prevalence, Correlates, and Consequences.
    • Kurian AW, Friese CR, Bondarenko I, Jagsi R, Li Y, Hamilton AS, Ward KC, Katz SJ.
    • JAMA Oncol. 2017 Mar 1;3(3):391-397. doi: 10.1001/jamaoncol.2016.5652.
    • Characterization of BRCA1 and BRCA2 variants in multi-ethnic Asian cohort from a Malaysian case-control study.
    • Lai KN, Ho WK, Kang IN, Kang PC, Phuah SY, Mariapun S, Yip CH, Mohd Taib NA, Teo SH.
    • BMC Cancer. 2017 Feb 22;17(1):149. doi: 10.1186/s12885-017-3099-6.
    • Pathogenic variant burden in the ExAC database: an empirical approach to evaluating population data for clinical variant interpretation.
    • Kobayashi Y, Yang S, Nykamp K, Garcia J, Lincoln SE, Topper SE.
    • Genome Med. 2017 Feb 6;9(1):13. doi: 10.1186/s13073-017-0403-7.
    • Cost Comparison of Genetic Testing Strategies in Women With Epithelial Ovarian Cancer.
    • Foote JR, Lopez-Acevedo M, Buchanan AH, Secord AA, Lee PS, Fountain C, Myers ER, Cohn DE, Reed SD, Havrilesky LJ.
    • J Oncol Pract. 2017 Feb;13(2):e120-e129. doi: 10.1200/JOP.2016.011866. Epub 2017 Jan 3.

    Comments from NSGC Discussion Forum Cancer SIG

    Subject: Always Handy

    • Multi-gene panel testing for hereditary cancer susceptibility in a rural Familial Cancer Program.
    • Hermel DJ, McKinnon WC, Wood ME, Greenblatt MS.
    • Fam Cancer. 2017 Jan;16(1):159-166. doi: 10.1007/s10689-016-9913-5.


    Patients with negative multi-gene panel testing: a back to the future paradox?


    Placing negative multi-gene panel results into clinical context.

    • A Lens for Evaluating Genetic Information Governance Models: Balancing Equity, Efficiency and Sustainability.
    • Skorve E, Vassilakopoulou P, Aanestad M, Grünfeld T.
    • Stud Health Technol Inform. 2017;235:298-302.
    • Next-generation sequencing: advances and applications in cancer diagnosis.
    • Serratì S, De Summa S, Pilato B, Petriella D, Lacalamita R, Tommasi S, Pinto R.
    • Onco Targets Ther. 2016 Dec 2;9:7355-7365. eCollection 2016.
    • Breast Cancer: Genetics and Risk Assessment.
    • Tejada-Bergés T.
    • Clin Obstet Gynecol. 2016 Dec;59(4):673-687.
    • Routine use of gene panel testing in hereditary breast cancer should be performed with caution.
    • van Marcke C, De Leener A, Berlière M, Vikkula M, Duhoux FP.
    • Crit Rev Oncol Hematol. 2016 Dec;108:33-39. doi: 10.1016/j.critrevonc.2016.10.008. Epub 2016 Oct 29.
    • Conflicting Interpretation of Genetic Variants and Cancer Risk by Commercial Laboratories as Assessed by the Prospective Registry of Multiplex Testing.
    • Balmaña J, Digiovanni L, Gaddam P, Walsh MF, Joseph V, Stadler ZK, Nathanson KL, Garber JE, Couch FJ, Offit K, Robson ME, Domchek SM.
    • J Clin Oncol. 2016 Dec;34(34):4071-4078. Epub 2016 Sep 30.


    Clinical Genetics Testing Laboratories Have a Remarkably Low Rate of Clinically Significant Discordance When Interpreting Variants in Hereditary Cancer Syndrome Genes.


    Reply to R. Nussbaum et al and J. Dolinsky et al.

    • As revenue falls, a pioneer of cancer gene testing slams rivals with overblown claims.
    • Sharon Begley
    • STAT. 2016 Nov 29.

    Comments from NSGC Discussion Forum Cancer SIG

    Subject: Variant calling

    • Long-term experiences with genetic consultation in people with hereditary breast and ovarian cancer.
    • Eismann S, Vetter L, Keller M, Bruckner T, Golatta M, Hennings A, Domschke C, Dikow N, Sohn C, Heil J, Schott S.
    • Arch Gynecol Obstet. 2016 Nov;294(5):1011-1018. Epub 2016 Jun 10.
    • Assessing, Counseling, and Treating Patients at High Risk for Breast Cancer.
    • Clifford E, Hughes KS, Roberts M, Pirzadeh-Miller S, McLaughlin SA.
    • Ann Surg Oncol. 2016 Oct;23(10):3128-32. doi: 10.1245/s10434-016-5399-5. Epub 2016 Jul 11.
    • Review
    • Evolution of Hereditary Breast Cancer Genetic Services: Are Changes Reflected in the Knowledge and Clinical Practices of Florida Providers?
    • Cragun D, Scherr C, Camperlengo L, Vadaparampil ST, Pal T.
    • Genet Test Mol Biomarkers. 2016 Oct;20(10):569-578. Epub 2016 Aug 15.
    • Updates on breast cancer genetics: Clinical implications of detecting syndromes of inherited increased susceptibility to breast cancer.
    • Cobain EF, Milliron KJ, Merajver SD.
    • Semin Oncol. 2016 Oct;43(5):528-535. doi: 10.1053/j.seminoncol.2016.10.001. Epub 2016 Oct 8.
    • Review
    • Consensus Guideline on Hereditary Genetic Testing for Patients With and Without Breast Cancer
    • ASBS Research committee
    • The American Society of Breast Surgeons. www.breastsurgeons.org. 2016 Sep 13.

    Comments on NSGC Discussion Forum Cancer SIG

    Subject: American Society of Breast Surgeons Consenus Guidelines on Genetic Testing

    Subject: American Society of Breast Surgeons Consenus Guidelines on Genetic Testing

    • HIPAA complaint alleges myriad genetics withheld variant data from patients: Allegation highlights the importance of data sharing, new HIPAA guidance.
    • [No authors listed]
    • Am J Med Genet A. 2016 Sep;170(9):2234-5. doi: 10.1002/ajmg.a.37886.
    • New challenges for BRCA testing: a view from the diagnostic laboratory.
    • Wallace AJ.
    • Eur J Hum Genet. 2016 Sep;24 Suppl 1:S10-8. doi: 10.1038/ejhg.2016.94.
    • Hereditary breast and ovarian cancer: new genes in confined pathways.
    • Nielsen FC, van Overeem Hansen T, Sørensen CS.
    • Nat Rev Cancer. 2016 Sep;16(9):599-612. doi: 10.1038/nrc.2016.72. Epub 2016 Aug 12.
    • Review
    • Germline Analysis from Tumor-Germline Sequencing Dyads to Identify Clinically Actionable Secondary Findings.
    • Seifert BA, O'Daniel JM, Amin K, Marchuk DS, Patel NM, Parker JS, Hoyle AP, Mose LE, Marron A, Hayward MC, Bizon C, Wilhelmsen KC, Evans JP, Earp HS, Sharpless N, Hayes DN, Berg JS.
    • Clin Cancer Res. 2016 Aug 15;22(16):4087-94. doi: 10.1158/1078-0432.CCR-16-0015. Epub 2016 Apr 15.

    Editorial / Commentary

    Toward Concurrent Testing for Somatic and Germline Variants in Cancer Patients.

    • Synchronous Onset of Breast and Pancreatic Cancers: Results of Germline and Somatic Genetic Analysis.
    • Castro M, Vierkoetter K, Prager D, Montgomery S, Sedgwick K.
    • Case Rep Oncol. 2016 Jul 21;9(2):387-394.
    • Genomics in Clinical Practice, Part 1: The Rise of Multiplex Gene Testing for Cancer.
    • Kate M. O'Rourke
    • Medscape Oncology. Coverage from the American Society of Clinical Oncology (ASCO) 2016 Annual Meeting. 2016 Jul 20.
    • Multi-gene Testing Increases Complexity of Counseling Women at Risk of Breast and Ovarian Cancer.
    • Hughes, D
    • Cancer Therapy Advisor. Breast Cancer Advisor. 2016 Jul 6.

    Comments from NSGC Discussion Forum Cancer SIG

    Subject: VUS

    • Variant classifications in BRCA1 and BRCA2: A systematic analysis of interlaboratory concordance.
    • Lincoln SE, Cline M, Yang S, Kobayashi Y, Zhang M, O'Leary E, Topper S, Paten B, Nussbaum R.
    • J Clin Oncol. 2016 May 20;34(15s):1592.
    • Conference abstract
    • Myriad Genetics embroiled in breast-cancer data fight - again.
    • Check Hayden E.
    • Nature. 2016 May 20;533(7604):449. doi: 10.1038/nature.2016.19953.
    • Patients challenge Myriad Genetics for access to their gene data.
    • Leah Samuel.
    • STAT. Health. 2016 May 19.
    • Assessing biases of information contained in pedigrees for the classification of BRCA-genetic variants: a study arising from the ENIGMA analytical working group.
    • Kerkhofs CH, Spurdle AB, Lindsey PJ, Goldgar DE, Gómez-García EB.
    • Hered Cancer Clin Pract. 2016 Apr 30;14:10. doi: 10.1186/s13053-016-0050-9. eCollection 2016.
    • When Gene Tests for Breast Cancer Reveal Grim Data but No Guidance.
    • Gina Kolata.
    • New York Times. Health. 2016 Mar 11.
    • Precision medicine in heritable cancer: when somatic tumour testing and germline mutations meet.
    • Ngeow J, Eng C.
    • NPJ Genom Med. 2016 Jan 13;1:15006. doi: 10.1038/npjgenmed.2015.6. eCollection 2016.
    • Beyond DNA: An Integrated and Functional Approach for Classifying Germline Variants in Breast Cancer Genes.
    • Pesaran T, Karam R, Huether R, Li S, Farber-Katz S, Chamberlin A, Chong H, LaDuca H, Elliott A.
    • Int J Breast Cancer. 2016;2016:2469523. Epub 2016 Oct 16.
    • Yang S, Cline M, Zhang C, Paten B, Lincoln SE.
    • Pac Symp Biocomput. 2016;22:166-176.
    • 2016 Genetics Toolkit
    • Society of Gynecologic Oncology
    • Society of Gynecologic Oncology. 2016.

    News: New Toolkit Can Help Debunk Myths About Genetic Testing for Gynecologic Cancer. (Cure)

    • Genetic counselors' practices and confidence regarding variant of uncertain significance results and reclassification from BRCA testing.
    • Scherr CL, Lindor NM, Malo TL, Couch FJ, Vadaparampil ST.
    • Clin Genet. 2015 Dec;88(6):523-9. doi: 10.1111/cge.12563. Epub 2015 Feb 26.
    • Understanding of BRCA VUS genetic results by breast cancer specialists.
    • Eccles BK, Copson E, Maishman T, Abraham JE, Eccles DM.
    • BMC Cancer. 2015 Nov 25;15(1):936. doi: 10.1186/s12885-015-1934-1.
    • Molding BRCA2 function through its interacting partners.
    • Martinez JS, Baldeyron C, Carreira A.
    • Cell Cycle. 2015 Nov 2;14(21):3389-95. doi: 10.1080/15384101.2015.1093702.
    • Review
    • BRCA1 and BRCA2 genetic testing-pitfalls and recommendations for managing variants of uncertain clinical significance.
    • Eccles DM, Mitchell G, Monteiro AN, Schmutzler R, Couch FJ, Spurdle AB, Gómez-García EB; ENIGMA Clinical Working Group.
    • Ann Oncol. 2015 Oct;26(10):2057-65. doi: 10.1093/annonc/mdv278. Epub 2015 Jul 7.
    • Clinical Application of Multigene Panels: Challenges of Next-Generation Counseling and Cancer Risk Management.
    • Slavin TP, Niell-Swiller M, Solomon I, Nehoray B, Rybak C, Blazer KR, Weitzel JN.
    • Front Oncol. 2015 Sep 29;5:208. doi: 10.3389/fonc.2015.00208. eCollection 2015.
    • Functional isogenic modeling of BRCA1 alleles reveals distinct carrier phenotypes.
    • Cochran RL, Cidado J, Kim M, Zabransky DJ, Croessmann S, Chu D, Wong HY, Beaver JA, Cravero K, Erlanger B, Parsons H, Heaphy CM, Meeker AK, Lauring J, Park BH.
    • Oncotarget. 2015 Sep 22;6(28):25240-51. doi: 10.18632/oncotarget.4595.
    • Genetic Testing Can Lead to Insights — Or Uncertainty.
    • Lauren M. Green.
    • Cure. 2015 Aug 13.
    • Meeting the challenges of interpreting variants of unknown clinical significance in BRCA testing.
    • Lattimore V, Currie M, Lintott C, Sullivan J, Robinson BA, Walker LC.
    • N Z Med J. 2015 Aug 7;128(1419):56-61.
    • Curating the Way to Better Determinants of Genetic Risk.
    • Phimister EG.
    • N Engl J Med. 2015 Jun 4;372(23):2227-2228. Epub 2015 May 27.
    • Editorial / Commentary
    • Gene-Panel Sequencing and the Prediction of Breast-Cancer Risk.
    • Easton DF, Pharoah PD, Antoniou AC, Tischkowitz M, Tavtigian SV, Nathanson KL, Devilee P, Meindl A, Couch FJ, Southey M, Goldgar DE, Evans DG, Chenevix-Trench G, Rahman N, Robson M, Domchek SM, Foulkes WD.
    • N Engl J Med. 2015 Jun 4;372(23):2243-2257. Epub 2015 May 27.

    Comments on NSGC Discussion Forum Cancer SIG

    Subject: Excellent review paper in NEJM

    Comment / Letter

    ClinGen and Genetic Testing.

    • Behind the Scenes of Breast Cancer, Researchers Collect Genetic Clues in BRCA Database.
    • [No author given]
    • GlobeNewswire. 2015 May 7.
    • For $249, Shouldn’t We All Have the Cancer Gene Panel?
    • [No author given]
    • My Gene Counsel. 2015 Apr 28.
    • BRCA Share (formerly UMD-BRCA1 mutations database) Home.
    • [No author given]
    • BRCA Share™ (formerly UMD-BRCA1 mutations database). 2015 Apr 21.
    • BRCA gene datashare will help detect cancer risk.
    • Susan Miller.
    • USA Today. 2015 Apr 21.
    • Characterization of three alternative transcripts of the BRCA1 gene in patients with breast cancer and a family history of breast and/or ovarian cancer who tested negative for pathogenic mutations.
    • Gambino G, Tancredi M, Falaschi E, Aretini P, Caligo MA.
    • Int J Mol Med. 2015 Apr;35(4):950-6. doi: 10.3892/ijmm.2015.2103. Epub 2015 Feb 16.
    • Proper genomic profiling of (BRCA1-mutated) basal-like breast carcinomas requires prior removal of tumor infiltrating lymphocytes.
    • Massink MP, Kooi IE, van Mil SE, Jordanova ES, Ameziane N, Dorsman JC, van Beek DM, van der Voorn JP, Sie D, Ylstra B, van Deurzen CH, Martens JW, Smid M, Sieuwerts AM, de Weerd V, Foekens JA, van den Ouweland AM, van Dyk E, Nederlof PM, Waisfisz Q, Meijers-Heijboer H.
    • Mol Oncol. 2015 Apr;9(4):877-88. doi: 10.1016/j.molonc.2014.12.012. Epub 2015 Jan 13.
    • Gene counsellors expect resurgence of 'Jolie effect'
    • Erika Check Hayden
    • Nature, News. 2015 Mar 26. doi: 10.1038/nature.2015.17184.
    • Has the BRCA Monopoly Been Reborn?
    • Ellen T. Matloff.
    • My Gene Counsel. 2015 Feb 24.
    • Variants of uncertain significance in BRCA: a harbinger of ethical and policy issues to come?
    • Cheon JY, Mozersky J, Cook-Deegan R.
    • Genome Med. 2014 Dec 19;6(12):121. doi: 10.1186/s13073-014-0121-3. eCollection 2014.
    • Unknown significance.
    • Couzin-Frankel J.
    • Science. 2014 Dec 5;346(6214):1167-70. doi: 10.1126/science.346.6214.1167.

    Press: Feature: Peering into my genome (Science)

    • Comparison of risk management strategies between women testing positive for a BRCA variant of unknown significance and women with known BRCA deleterious mutations.
    • Garcia C, Lyon L, Littell RD, Powell CB.
    • Genet Med. 2014 Dec;16(12):896-902. doi: 10.1038/gim.2014.48. Epub 2014 May 22.
    • Genetic testing today.
    • Euhus D.
    • Ann Surg Oncol. 2014 Oct;21(10):3209-15. doi: 10.1245/s10434-014-3906-0. Epub 2014 Jul 17.
    • Cancer risk assessment using genetic panel testing: considerations for clinical application.
    • Hiraki S, Rinella ES, Schnabel F, Oratz R, Ostrer H.
    • J Genet Couns. 2014 Aug;23(4):604-17. doi: 10.1007/s10897-014-9695-6. Epub 2014 Mar 7.
    • Multigene panel testing: planning the next generation of research studies in clinical cancer genetics.
    • Robson M.
    • J Clin Oncol. 2014 Jul 1;32(19):1987-9. doi: 10.1200/JCO.2014.56.0474. Epub 2014 May 27.

    Clinical evaluation of a multiple-gene sequencing panel for hereditary cancer risk assessment.

    • The Truth about Public Genetic Databases.
    • [No author given]
    • Yale Cancer Genetic Counseling, 2014 Jun 16.
    • Cancer-gene data sharing boosted.
    • Hayden EC.
    • Nature. 2014 Jun 10;510(7504):198. doi: 10.1038/510198a.
    • Two Decades After BRCA: Setting Paradigms in Personalized Cancer Care and Prevention.
    • Couch FJ, Nathanson KL, Offit K.
    • Science. 2014 Mar 28;343(6178):1466-70. doi: 10.1126/science.1251827.
    • Editorial / Commentary
    • Next-generation sequencing for inherited breast cancer risk: counseling through the complexity.
    • Rainville IR, Rana HQ.
    • Curr Oncol Rep. 2014 Mar;16(3):371. doi: 10.1007/s11912-013-0371-z.
    • Case report, Review

    Comments on NSGC Discussion Forum Cancer SIG

    Subject: Article request multigene panels

    • BRCA mutations and outcome in epithelial ovarian cancer (EOC): experience in ethnically diverse groups.
    • Safra T, Lai WC, Borgato L, Nicoletto MO, Berman T, Reich E, Alvear M, Haviv I, Muggia FM.
    • Ann Oncol. 2013 Nov;24 Suppl 8:viii63-viii68. doi: 10.1093/annonc/mdt315.
    • Variants of unknown significance in BRCA testing: impact on risk perception, worry, prevention and counseling.
    • Richter S, Haroun I, Graham TC, Eisen A, Kiss A, Warner E.
    • Ann Oncol. 2013 Nov;24 Suppl 8:viii69-viii74. doi: 10.1093/annonc/mdt312.
    • Variants of uncertain significance in BRCA testing: evaluation of surgical decisions, risk perception, and cancer distress.
    • Culver J, Brinkerhoff C, Clague J, Yang K, Singh K, Sand S, Weitzel J.
    • Clin Genet. 2013 Nov;84(5):464-472. doi: 10.1111/cge.12097. Epub 2013 Feb 20.
    • Researchers Spar Over Tests for Breast Cancer Risks.
    • Jocelyn Kaiser.
    • ScienceInsider. 2013 Oct 24.
    • Free the data: the end of genetic data as trade secrets.
    • Nguyen S, Terry SF.
    • Genet Test Mol Biomarkers. 2013 Aug;17(8):579-80. doi: 10.1089/gtmb.2013.1547.
    • Heritable genetic changes in the open.
    • [No authors listed]
    • Nat Methods. 2013 Aug;10(8):683.
    • Genomic Medicine Just Hit the Accelerator.
    • Eric J. Topol.
    • Medscape Internal Medicine. 2013 Jun 17.
    • Commercial Opportunities and Ethical Pitfalls in Personalized Medicine: A Myriad of Reasons to Revisit the Myriad Genetics Saga.
    • So D, Joly Y.
    • Curr Pharmacogenomics Person Med. 2013 Jun;11(2):98-109.
    • The next controversy in genetic testing: clinical data as trade secrets?
    • Cook-Deegan R, Conley JM, Evans JP, Vorhaus D.
    • Eur J Hum Genet. 2013 Jun;21(6):585-8. doi: 10.1038/ejhg.2012.217. Epub 2012 Nov 14.


    Genetics testing firm is accused of “hiding vital breast cancer data”

    News blog: Policy paper: Myriad turns cancer genetic data into trade secrets (Nature.com)

    • A statewide survey of practitioners to assess knowledge and clinical practices regarding hereditary breast and ovarian cancer.
    • Pal T, Cragun D, Lewis C, Doty A, Rodriguez M, Radford C, Thompson Z, Kim J, Vadaparampil ST.
    • Genet Test Mol Biomarkers. 2013 May;17(5):367-75. doi: 10.1089/gtmb.2012.0381. Epub 2013 Feb 28.
    • BRCA1/2 Sequence Variants of Uncertain Significance: A Primer for Providers to Assist in Discussions and in Medical Management.
    • Lindor NM, Goldgar DE, Tavtigian SV, Plon SE, Couch FJ.
    • Oncologist. [2013 May;]18(5):518-24. doi: 10.1634/theoncologist.2012-0452. Epub 2013 Apr 24.
    • Genetic counseling does not fulfill the counselees' need for certainty in hereditary breast/ovarian cancer families: an explorative assessment.
    • Vos J, Menko FH, Oosterwijk JC, van Asperen CJ, Stiggelbout AM, Tibben A.
    • Psychooncology. 2013 May;22(5):1167-76. doi: 10.1002/pon.3125. Epub 2012 Jul 9.
    • DNA Project Aims to Make Public a Company’s Data on Cancer Genes.
    • Gina Kolata.
    • NY Times. 2013 Apr 12.
    • Short-term psychological impact of the BRCA1/2 test result in women with breast cancer according to their perceived probability of genetic predisposition to cancer.
    • Brédart A, Kop JL, Depauw A, Caron O, Sultan S, Leblond D, Fajac A, Buecher B, Gauthier-Villars M, Noguès C, Flahault C, Stoppa-Lyonnet D, Dolbeault S.
    • Br J Cancer. 2013 Mar 19;108(5):1012-20. doi: 10.1038/bjc.2012.599. Epub 2013 Mar 5.
    • Variants of Uncertain Significance in BRCA1 and BRCA2 assessment of in silico analysis and a proposal for communication in genetic counselling.
    • Moghadasi S, Hofland N, Wouts JN, Hogervorst FB, Wijnen JT, Vreeswijk MP, van Asperen CJ.
    • J Med Genet. 2013 Feb;50(2):74-9. doi: 10.1136/jmedgenet-2012-100961. Epub 2012 Dec 11.
    • NICE launches consultation on familial breast cancer guidelines.
    • Simon Leese.
    • PHG Foundation. 2013 Jan 15.
    • To Improve Care for Your High Risk HBOC Patients, You Don’t Need the Supreme Court: It Is All in Your Hands — and In Your Files.
    • Laura Hercher.
    • The DNA Exchange. 2012 Nov 29.
    • A guide for functional analysis of BRCA1 variants of uncertain significance.
    • Millot GA, Carvalho MA, Caputo SM, Vreeswijk MP, Brown MA, Webb M, Rouleau E, Neuhausen SL, Hansen Tv, Galli A, Brandão RD, Blok MJ, Velkova A, Couch FJ, Monteiro AN; ENIGMA Consortium Functional Assay Working Group.
    • Hum Mutat. 2012 Nov;33(11):1526-37. doi: 10.1002/humu.22150. Epub 2012 Jul 16.
    • How genetic variant libraries effectively extend gene testing patents: implications for intellectual property and good clinical care.
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    Press: Most parents who get tested for breast cancer genes share results with their children. (EurekAlert!)

    Press: Most Parents Disclose Cancer Gene Results to Children. (Medscape)

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