• Unexpected Findings in Hereditary Breast and Ovarian Cancer Syndrome: Low-Level Constitutional Mosaicism in BRCA2.
    • Mayoral I, Almeida Santiago A, Sánchez-Zapardiel JM, Hidalgo Calero B, de la Hoya M, Gómez-Sanz A, de Miguel Reyes M, Robles L.
    • Genes (Basel). 2023 Feb 15;14(2):502. doi: 10.3390/genes14020502.
    • Clinical and laboratory genetic counselor attitudes on the reporting of variants of uncertain significance for multigene cancer panels.
    • Chang EY, Solomon I, Culver JO, Gorman N, Comeaux JG, Lerman C, Quinn EA, Ekstein T.
    • J Genet Couns. 2023 Feb 6. doi: 10.1002/jgc4.1680. Epub ahead of print.
    • Actionable pathogenic germline variants discovered by panel-based hereditary cancer testing in families with previously identified pathogenic variants. [2022 CGA-IGC Annual Meeting: The collaborative group of the Americas on Inherited Gastrointestinal Cancer November 11–13, 2022.]
    • Neumann C, Mcsweeny M, Rainey K, Campbell H, Nguyen C, Hall M.
    • Fam Cancer. [P-13: Research Categories » Counseling, Behavioral Health, Psychosocial, and Survivorship.] 2023 Jan 23. doi: 10.1007/s10689-022-00324-x. Epub ahead of print.
    • Conference abstract
    • Occurrence of variants of unknown clinical significance in genetic testing for hereditary breast and ovarian cancer syndrome and Lynch syndrome: a literature review and analytical observational retrospective cohort study.
    • Adam F, Fluri M, Scherz A, Rabaglio M.
    • BMC Med Genomics. 2023 Jan 16;16(1):7. doi: 10.1186/s12920-023-01437-7.
    • Clinical decisions by the molecular tumor board on comprehensive genomic profiling tests in Japan: A retrospective observational study.
    • Shirota H, Komine K, Takahashi M, Takahashi S, Miyauchi E, Niizuma H, Tada H, Shimada M, Niihori T, Aoki Y, Sugiyama I, Kawamura M, Yasuda J, Suzuki S, Iwaya T, Saito M, Saito T, Shibata H, Furukawa T, Ishioka C.
    • Cancer Med. 2022 Oct 17. doi: 10.1002/cam4.5349. Epub ahead of print.
    • Moderate penetrance genes complicate genetic testing for breast cancer diagnosis: ATM, CHEK2, BARD1 and RAD51D.
    • Graffeo R, Rana HQ, Conforti F, Bonanni B, Cardoso MJ, Paluch-Shimon S, Pagani O, Goldhirsch A, Partridge AH, Lambertini M, Garber JE.
    • Breast. 2022 Oct;65:32-40. doi: 10.1016/j.breast.2022.06.003. Epub 2022 Jun 18.
    • Who Should Have Multigene Germline Testing for Hereditary Cancer?
    • Savage SA.
    • J Clin Oncol. 2022 Sep 27:JCO2201691. doi: 10.1200/JCO.22.01691. Epub ahead of print.

    Related:

    Original research:

    Development and Validation of the PREMMplus Model for Multigene Hereditary Cancer Risk Assessment.

    • Returning individual genomic results to population-based cohort study participants with BRCA1/2 pathogenic variants.
    • Ohneda K, Hamanaka Y, Kawame H, Fuse N, Nagami F, Suzuki Y, Yamaguchi-Kabata Y, Shimada M, Masamune A, Aoki Y, Ishida T, Yamamoto M.
    • Breast Cancer. 2022 Sep 26. doi: 10.1007/s12282-022-01404-7. Epub ahead of print.
    • Online Tool IDs People With Genetic Mutations Linked to Cancer.
    • Brooks M.
    • Medscape Oncology. 2022 Aug 30.

    Related:

    Original research:

    Development and Validation of the PREMMplus Model for Multigene Hereditary Cancer Risk Assessment.

    • Genetic variants with discordant classifications: An assessment of genetic counselor attitudes and practices.
    • Lahiri S, Reys B, Wunder J, Pirzadeh-Miller S.
    • J Genet Couns. 2022 Aug 17. doi: 10.1002/jgc4.1626. Epub ahead of print.
    • Development and Validation of the PREMMplus Model for Multigene Hereditary Cancer Risk Assessment.
    • Yurgelun MB, Uno H, Furniss CS, Ukaegbu C, Horiguchi M, Yussuf A, LaDuca H, Chittenden A, Garber JE, Syngal S.
    • J Clin Oncol. 2022 Aug 12:JCO2200120. doi: 10.1200/JCO.22.00120. Epub ahead of print.

    Related:

    Commentary:

    Who Should Have Multigene Germline Testing for Hereditary Cancer?

    Research news: Online Tool IDs People With Genetic Mutations Linked to Cancer. (Medscape Oncology)

    • Challenges in breast cancer genetic testing. A call for novel forms of multidisciplinary care and long-term evaluation.
    • Menko FH, Monkhorst K, Hogervorst FBL, Rosenberg EH, Adank M, Ruijs MWG, Bleiker EMA, Sonke GS, Russell NS, Oldenburg HSA, van der Kolk LE.
    • Crit Rev Oncol Hematol. 2022 Aug;176:103642. doi: 10.1016/j.critrevonc.2022.103642. Epub 2022 Mar 5.
    • Genetic counselors' experience with reimbursement and patient out-of-pocket cost for multi-cancer gene panel testing for hereditary cancer syndromes.
    • Weldon CB, Trosman JR, Liang SY, Douglas MP, Scheuner MT, Kurian A, Schaa KL, Roscow B, Erwin D, Phillips KA.
    • J Genet Couns. 2022 Jul 28. doi: 10.1002/jgc4.1614. Epub ahead of print.
    • Germline Testing of Patients With Non-small Cell Lung Cancers Demonstrating Incidentally Uncovered BRCA2 Apparent Pathogenic Germline Variants.
    • Sorscher S.
    • Clin Lung Cancer. 2022 Jul 21 [2022 Jul 20]:S1525-7304(22)00163-2. doi: 10.1016/j.cllc.2022.07.011. Epub ahead of print.
    • Psychological and health behaviour outcomes following multi-gene panel testing for hereditary breast and ovarian cancer risk: a mini-review of the literature.
    • Carlsson L, Thain E, Gillies B, Metcalfe K.
    • Hered Cancer Clin Pract. 2022 Jun 22;20(1):25. doi: 10.1186/s13053-022-00229-x.
    • Incomplete Penetrance of Population-Based Genetic Screening Results in Electronic Health Record.
    • Elhanan G, Kiser D, Neveux I, Dabe S, Bolze A, Metcalf WJ, Lu JT, Grzymski JJ.
    • Front Genet. 2022 Apr 27;13:866169. doi: 10.3389/fgene.2022.866169.
    • Next step in molecular genetics of hereditary breast/ovarian cancer: Multigene panel testing in clinical actionably genes and prioritization algorithms in the study of variants of uncertain significance.
    • Castillo-Guardiola V, Rosado-Jiménez L, Sarabia-Meseguer MD, Marín-Vera M, Macías-Cerrolaza JA, García-Hernández R, Zafra-Poves M, Sánchez-Henarejos P, Moreno-Locubiche MÁ, Cuevas-Tortosa E, Arnaldos-Carrillo M, Ayala de la Peña F, Alonso-Romero JL, Noguera-Velasco JA, Ruiz-Espejo F.
    • Eur J Med Genet. 2022 Apr;65(4):104468. doi: 10.1016/j.ejmg.2022.104468. Epub 2022 Mar 1.
    • An overview of genetic services delivery for hereditary breast cancer.
    • Reid S, Spalluto LB, Lang K, Weidner A, Pal T.
    • Breast Cancer Res Treat. 2022 Feb;191(3):491-500. doi: 10.1007/s10549-021-06478-z. Epub 2022 Jan 26.
    • Hereditary cancer panel testing challenges and solutions for the latinx community: costs, access, and variants.
    • Douglas MP, Lin GA, Trosman JR, Phillips KA.
    • J Community Genet. 2022 Feb;13(1):75-80. doi: 10.1007/s12687-021-00563-y. Epub 2021 Nov 6.
    • Polygenic risk in familial breast cancer: Changing the dynamics of communicating genetic risk.
    • Gregory G, Das Gupta K, Meiser B, Barlow-Stewart K, Geelan-Small P, Kaur R, Scheepers-Joynt M, McInerny S, Taylor S, Antill Y, Salmon L, Smyth C, Young MA, James PA, Yanes T.
    • J Genet Couns. 2022 Feb;31(1):120-129. doi: 10.1002/jgc4.1458. Epub 2021 Jul 5.
    • Genetic Testing Challenges in Oncology: Prior Retinoblastoma Not Considered in Test Ordering.
    • Ray T.
    • Precision Oncology News. Disease Areas. 2021 Dec 22.
    • Utilization of breast cancer risk prediction models by cancer genetic counselors in clinical practice predominantly in the United States.
    • Park MS, Weissman SM, Postula KJV, Williams CS, Mauer CB, O'Neill SM.
    • J Genet Couns. 2021 Dec;30(6):1737-1747. doi: 10.1002/jgc4.1442. Epub 2021 Jun 2.
    • Genetic Testing Challenges in Oncology: Same Multigene Cancer Risk Panel Not Right for All.
    • Ray T.
    • Precision Oncology News. Biomarkers. BRCA. 2021 Oct 28.
    • Genetic Testing Challenges in Oncology: BRCA1 Variant Downgraded After Risk-Reducing Surgery.
    • Ray T.
    • Precision Oncology News. Biomarkers. BRCA. 2021 Sep 29.
    • Alternative Genetic Counseling Approach Leads to Higher Patient Satisfaction, Study Suggests.
    • Curtin C.
    • GenomeWeb. Research & Discovery. 2021 Sep 27.
    • Understanding the Clinical Implications of Low Penetrant Genes and Breast Cancer Risk.
    • Vaidyanathan A, Kaklamani V.
    • Curr Treat Options Oncol. 2021 Aug 23;22(10):85. doi: 10.1007/s11864-021-00887-4.
    • Review
    • Oncologists' Perceptions of Tumor Genomic Profiling and the Communication of Test Results and Risks.
    • Hall MJ, D'Avanzo P, Chertock Y, Brajuha J, Bass SB.
    • Public Health Genomics. 2021 Jul 29:1-6. doi: 10.1159/000517486. Epub ahead of print.
    • Genetic counselor approaches to BRCA1/2 direct-to-consumer genetic testing results.
    • Burke S, Mork M, Qualmann K, Woodson A, Jin Ha M, Arun B, Kaulfus M.
    • J Genet Couns. 2021 Jun;30(3):803-812. doi: 10.1002/jgc4.1380. Epub 2021 Feb 6.
    • Multigene Panel Testing for Hereditary Cancer and Genetic Counseling.
    • Lee ES, Kim J, Han W.
    • Adv Exp Med Biol. 2021 [First Online: 14 May 2021];1187:455-471. doi: 10.1007/978-981-32-9620-6_24.
    • Review, eBook chapter
    • Incidental findings in a series of 2500 gene panel tests for a genetic predisposition to cancer: Results and Impact on patients.
    • Nambot S, Bertolone G, Sawka C, Cosset E, Goussot V, Derangère V, Boidot R, Baurand A, Robert M, Coutant C, Loustalot C, Thauvin-Robinet C, Ghiringhelli F, Lançon A, Populaire C, Damette A, Collonge-Rame MA, Meunier-Beillard N, Lejeune C, Albuisson J, Faivre L.
    • Eur J Med Genet. 2021 Mar 19:104196. doi: 10.1016/j.ejmg.2021.104196. Epub ahead of print.
    • Germline FFPE inherited cancer panel testing in deceased family members: implications for clinical management of unaffected relatives.
    • Bennett S, Alexander E, Fraser H, Bowers N, Wallace A, Woodward ER, Lalloo F, Quinn AM, Huang S, Schlecht H, Evans DG.
    • Eur J Hum Genet. 2021 Mar 2. doi: 10.1038/s41431-021-00817-w. Epub ahead of print.
    • 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.
    • The impact of the number of tests presented and a provider recommendation on decisions about genetic testing for cancer risk.
    • Schwartz MLB, Klein WMP, Erby LAH, Smith CH, Roter DL.
    • Patient Educ Couns. 2021 Feb;104(2):265-275. doi: 10.1016/j.pec.2020.09.020. Epub 2020 Sep 18.
    • Double heterozygosity for TP53 and BRCA1 mutations: clinical implications in populations with founder mutations.
    • Shani H, Bernstein-Molho R, Laitman Y, Netzer I, Friedman E.
    • Breast Cancer Res Treat. 2021 Jan 15. doi: 10.1007/s10549-020-06084-5. Epub ahead of print.
    • Case report
    • Germline multigene panel testing revealed a BRCA2 pathogenic variant in a patient with suspected Lynch syndrome.
    • Yoshihama T, Hirasawa A, Sugano K, Yoshida T, Ushiama M, Ueki A, Akahane T, Nanki Y, Sakai K, Makabe T, Yamagami W, Susumu N, Kameyama K, Kosaki K, Aoki D.
    • Int Cancer Conf J. 2020 Oct 9;10(1):6-10. doi: 10.1007/s13691-020-00449-9. eCollection 2021 Jan.
    • Genetic Testing Challenges in Oncology: Woman Without High Breast Cancer Risk Recommended Surgery.
    • Ray T.
    • Precision Oncology News. 2020 Dec 22.
    • Ovarian cancer risk assessment in the era of next-generation sequencing.
    • Bonadio RC, Crespo JR, Estevez-Diz MDP.
    • Ann Transl Med. 2020 Dec;8(24):1704. doi: 10.21037/atm-20-1582.
    • Multigene Panel Germline Testing of Cancer Patients Detects Unexpected Pathogenic Variants.
    • Curtin C.
    • Precision Oncology News. 2020 Nov 23.
    • Conference News
    • Genetic Testing Challenges in Oncology: Surgeon Recommends Mastectomy for Woman With RAD50 Mutation.
    • Ray T.
    • Precision Oncology News. Diagnostics. 2020 Oct 22.

    Related:

    Press: Many supposed breast cancer risk genes don’t raise risk, studies find. (The Philadelphia Inquirer)

    Blog post: My Gene Counsel Quoted in The Philadelphia Inquirer. (My Gene Counsel)

    Original research:

    Cancer risk management among female BRCA1/2, PALB2, CHEK2, and ATM carriers.

    • Genetic testing for breast cancer risk, from BRCA1/2 to a seven gene panel: an ethical analysis.
    • Gustavsson E, Galvis G, Juth N.
    • BMC Med Ethics. 2020 Oct 21;21(1):102. doi: 10.1186/s12910-020-00545-8.
    • Feedback of extended panel sequencing in 1,530 patients referred for suspicion of hereditary predisposition to adult cancers.
    • Cavaillé M, Uhrhammer N, Privat M, Ponelle-Chachuat F, Gay-Bellile M, Lepage M, Viala S, Bidet Y, Bignon YJ.
    • Clin Genet. 2020 Oct 12. doi: 10.1111/cge.13864. Epub ahead of print.
    • Impact of Numeracy Preferences on Information Needs for Genome Sequencing Results.
    • Albrechtsen RD, Goodman MS, Bathar J, Kaphingst KA.
    • Patient Educ Couns. 2020 Sep 25:S0738-3991(20)305309. doi: 10.1016/j.pec.2020.09.032. Epub ahead of print.
    • Evaluation of a Mainstream Model of Genetic Testing for Men With Prostate Cancer.
    • Scheinberg T, Goodwin A, Ip E, Linton A, Mak B, Smith DP, Stockler MR, Strach MC, Tran B, Young AL, Zhang AY, Mahon KL, Horvath LG.
    • JCO Oncol Pract. 2020 Sep 24:OP2000399. doi: 10.1200/OP.20.00399. Epub ahead of print.
    • Informing models of cancer genetic care in the era of multigene panel testing with patient-led recommendations.
    • Underhill-Blazey M, Blonquist T, Chittenden A, Pozzar R, Nayak M, Lansang K, Hong F, Garber J, Stopfer JE.
    • J Genet Couns. 2020 Aug 26. doi: 10.1002/jgc4.1317. Epub ahead of print.
    • Genetic Counseling for Hereditary Gastric and Pancreatic Cancer in High-Risk Gastrointestinal Cancer Clinics: An Effective Strategy.
    • Llach J, Moreno L, Sánchez A, Herrera-Pariente C, Ocaña T, Cuatrecasas M, Rivero-Sánchez L, Moreira R, Díaz M, Jung G, Pellisé M, Castells A, Balaguer F, Carballal S, Moreira L.
    • Cancers (Basel). 2020 Aug 23;12(9):2386. doi: 10.3390/cancers12092386.
    • Germlines 'Rich Source' of Prostate Cancer Info.
    • O'Rourke K, Giri V.
    • Medscape Oncology. 2020 Jul 21.
    • The contemporary landscape of genetic testing and breast cancer: Emerging issues.
    • Shah PD, Domchek SM.
    • Breast J. 2020 Jul 20. doi: 10.1111/tbj.13968. Epub ahead of print.
    • Review
    • Update on multi-gene panel testing and communication of genetic test results.
    • Reid S, Pal T.
    • Breast J. 2020 Jul 8. doi: 10.1111/tbj.13971. Epub ahead of print.
    • Review
    • 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.
    • 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.
    • 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.
    • Pediatric Reporting of Genomic Results Study (PROGRESS): A Mixed-Methods, Longitudinal, Observational Cohort Study Protocol to Explore Disclosure of Actionable Adult- And Pediatric-Onset Genomic Variants to Minors and Their Parents.
    • Savatt JM, Wagner JK, Joffe S, Rahm AK, Williams MS, Bradbury AR, Davis FD, Hergenrather J, Hu Y, Kelly MA, Kirchner HL, Meyer MN, Mozersky J, O'Dell SM, Pervola J, Seeley A, Sturm AC, Buchanan AH.
    • BMC Pediatr. 2020 May 15;20(1):222. doi: 10.1186/s12887-020-02070-4.
    • Genetic Testing Challenges in Oncology: Patient With BRCA1 VUS Has Prophylactic Surgery.
    • Ray T.
    • Precision Oncology News. 2020 Apr 6.
    • 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.

    Related:

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

    • Illustrating Cancer Risk: Patient Risk Communication Preferences and Interest regarding a Novel BRCA1/2 Genetic Risk Modifier Test.
    • Hamilton JG, Genoff Garzon M, Shah IH, Cadet K, Shuk E, Westerman JS, Hay JL, Offit K, Robson ME.
    • Public Health Genomics. 2020 Mar 19:1-14. doi: 10.1159/000505854. [Epub ahead of print]
    • Oncology Clinic-Based Hereditary Cancer Genetic Testing in a Population-Based Health Care System.
    • Richardson M, Min HJ, Hong Q, Compton K, Mung SW, Lohn Z, Nuk J, McCullum M, Portigal-Todd C, Karsan A, Regier D, Brotto LA, Sun S, Schrader KA.
    • Cancers (Basel). 2020 Feb 3;12(2). pii: E338. doi: 10.3390/cancers12020338.
    • 'We don't know for sure': discussion of uncertainty concerning multigene panel testing during initial cancer genetic consultations.
    • Medendorp NM, Hillen MA, van Maarschalkerweerd PEA, Aalfs CM, Ausems MGEM, Verhoef S, van der Kolk LE, Berger LPV, Wevers MR, Wagner A, Caanen BAH, Stiggelbout AM, Smets EMA.
    • Fam Cancer. 2020 Jan;19(1):65-76. doi: 10.1007/s10689-019-00154-4. Epub 2019 Nov 26.
    • Myriad Data Supports Polygenic Score Value Even in Canonical Mutation Carriers.
    • Ashford M.
    • GenomeWeb. 2019 Dec 27.
    • News
    • Multigene Cancer Panels: Implications for Pre- and Post-test Genetic Counseling.
    • Grady MC, Kolla KA, Peshkin BN.
    • Curr Genet Med Rep. 2019 Nov 4. doi: 10.1007/s40142-019-00173-8. [Epub ahead of print]
    • Review
    • An update on genetic risk assessment and prevention: the role of genetic testing panels in breast cancer.
    • Piccinin C, Panchal S, Watkins N, Kim RH.
    • Expert Rev Anticancer Ther. 2019 Aug 30. doi: 10.1080/14737140.2019.1659730. [Epub ahead of print]
    • Review
    • Does multilocus inherited neoplasia alleles syndrome have severe clinical expression?
    • Stradella A, Del Valle J, Rofes P, Feliubadaló L, Grau Garces È, Velasco À, González S, Vargas G, Izquierdo Á, Campos O, Tornero E, Navarro M, Balmaña-Gelpi J, Capellá G, Pineda M, Brunet J, Lázaro C.
    • J Med Genet. 2019 Aug;56(8):521-525. doi: 10.1136/jmedgenet-2018-105700. Epub 2018 Dec 22.
    • From Targeting Somatic Mutations to Finding Inherited Cancer Predispositions: The Other Side of the Coin.
    • Pujol P, De La Motte Rouge T, Penault-Llorca F.
    • Diagnostics (Basel). 2019 Jul 26;9(3). pii: E83. doi: 10.3390/diagnostics9030083.
    • A Simple Way to Make Genetic Counseling More Efficient and Accessible.
    • Markman M.
    • Medscape Oncology. 2019 Jun 14.

    Related:

    Original research:

    Modified panel-based genetic counseling for ovarian cancer susceptibility: A randomized non-inferiority study.

    • "Decoding hereditary breast cancer" benefits and questions from multigene panel testing.
    • Colas C, Golmard L, de Pauw A, Caputo SM, Stoppa-Lyonnet D.
    • Breast. 2019 Jun;45:29-35. doi: 10.1016/j.breast.2019.01.002. Epub 2019 Jan 8.
    • Review
    • Cases and evidence for panel testing in cancer genetics: Is site-specific testing dead?
    • Thomas MH, Higgs LK, Modesitt SC, Schroen AT, Ring KL, Dillon PM.
    • J Genet Couns. 2019 Jun;28(3):700-707. doi: 10.1002/jgc4.1044. Epub 2019 Feb 1.
    • Case report
    • A narrative overview of the patients' outcomes after multigene cancer panel testing, and a thorough evaluation of its implications for genetic counselling.
    • Esteban I, Lopez-Fernandez A, Balmaña J.
    • Eur J Med Genet. 2019 May;62(5):342-349. doi: 10.1016/j.ejmg.2018.11.027. Epub 2018 Nov 23.
    • Review
    • Cases in Precision Medicine: When Patients Present With Direct-to-Consumer Genetic Test Results.
    • Artin MG, Stiles D, Kiryluk K, Chung WK.
    • Ann Intern Med. 2019 Apr 30. doi: 10.7326/M18-2356. [Epub ahead of print]
    • Case report
    • Development and testing of the KnowGene scale to assess general cancer genetic knowledge related to multigene panel testing.
    • Underhill-Blazey M, Stopfer J, Chittenden A, Nayak MM, Lansang K, Lederman R, Garber J, Gundersen DA.
    • Patient Educ Couns. 2019 Apr 13. pii: S0738-3991(19)30138-7. doi: 10.1016/j.pec.2019.04.014. [Epub ahead of print]
    • Modified panel-based genetic counseling for ovarian cancer susceptibility: A randomized non-inferiority study.
    • McCuaig JM, Tone AA, Maganti M, Romagnuolo T, Ricker N, Shuldiner J, Rodin G, Stockley T, Kim RH, Bernardini MQ.
    • Gynecol Oncol. 2019 Apr;153(1):108-115. doi: 10.1016/j.ygyno.2018.12.027. Epub 2019 Jan 10.

    Related:

    Commentary: A Simple Way to Make Genetic Counseling More Efficient and Accessible. (Medscape Oncology)

    • Uncertainty related to multigene panel testing for cancer: a qualitative study on counsellors' and counselees' views.
    • Medendorp NM, Hillen MA, Murugesu L, Aalfs CM, Stiggelbout AM, Smets EMA.
    • J Community Genet. 2019 Apr;10(2):303-312. doi: 10.1007/s12687-018-0393-1. Epub 2018 Nov 14.
    • The Benefits and Blinders of Do-Goodism.
    • Resta R.
    • The DNA Exchange. 2019 Jan 20.
    • "Decoding hereditary breast cancer" benefits and questions from multigene panel testing.
    • Colas C, Golmard L, de Pauw A, Caputo SM, Stoppa-Lyonnet D.
    • Breast. 2019 Jan 8;45:29-35. doi: 10.1016/j.breast.2019.01.002. [Epub ahead of print]
    • Use and Patient-Reported Outcomes of Clinical Multigene Panel Testing for Cancer Susceptibility in the Multicenter Communication of Genetic Test Results by Telephone Study.
    • Hall MJ, Patrick-Miller LJ, Egleston BL, Domchek SM, Daly MB, Ganschow P, Grana G, Olopade OI, Fetzer D, Brandt A, Chambers R, Clark DF, Forman A, Gaber R, Gulden C, Horte J, Long JM, Lucas T, Madaan S, Mattie K, McKenna D, Montgomery S, Nielsen S, Powers J, Rainey K, Rybak C, Savage M, Seelaus C, Stoll J, Stopfer JE, Yao XS, Bradbury AR.
    • JCO Precis Oncol. 2018;2. doi: 10.1200/PO.18.00199. Epub 2018 Dec 18.
    • 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
    • Hereditary Cancer Risk Assessment and Genetic Testing in the Community-Practice Setting.
    • DeFrancesco MS, Waldman RN, Pearlstone MM, Karanik D, Bernhisel R, Logan J, Alico L, Adkins RT.
    • Obstet Gynecol. 2018 Nov;132(5):1121-1129. doi: 10.1097/AOG.0000000000002916.
    • Identification of Incidental Germline Mutations in Patients With Advanced Solid Tumors Who Underwent Cell-Free Circulating Tumor DNA Sequencing.
    • Slavin TP, Banks KC, Chudova D, Oxnard GR, Odegaard JI, Nagy RJ, Tsang KWK, Neuhausen SL, Gray SW, Cristofanilli M, Rodriguez AA, Bardia A, Leyland-Jones B, Janicek MF, Lilly M, Sonpavde G, Lee CE, Lanman RB, Meric-Bernstam F, Kurzrock R, Weitzel JN.
    • J Clin Oncol. 2018 Oct 19:JCO1800328. doi: 10.1200/JCO.18.00328. [Epub ahead of print]
    • [The French Genetic and Cancer Consortium guidelines for multigene panel analysis in hereditary breast and ovarian cancer predisposition].
    • Moretta J, Berthet P, Bonadona V, Caron O, Cohen-Haguenauer O, Colas C, Corsini C, Cusin V, De Pauw A, Delnatte C, Dussart S, Jamain C, Longy M, Luporsi E, Maugard C, Nguyen TD, Pujol P, Vaur D, Andrieu N, Lasset C, Noguès C; Groupe Génétique et Cancer d’Unicancer.
    • Bull Cancer. 2018 Oct;105(10):907-917. doi: 10.1016/j.bulcan.2018.08.003. Epub 2018 Sep 27.
    • Practice Guideline, [Article in French]
    • Clinical interpretation of pathogenic ATM and CHEK2 variants on multigene panel tests: navigating moderate risk.
    • West AH, Blazer KR, Stoll J, Jones M, Weipert CM, Nielsen SM, Kupfer SS, Weitzel JN, Olopade OI.
    • Fam Cancer. 2018 Oct;17(4):495-505. doi: 10.1007/s10689-018-0070-x.
    • Randomized Noninferiority Trial of Telephone vs In-Person Disclosure of Germline Cancer Genetic Test Results.
    • Bradbury AR, Patrick-Miller LJ, Egleston BL, Hall MJ, Domchek SM, Daly MB, Ganschow P, Grana G, Olopade OI, Fetzer D, Brandt A, Chambers R, Clark DF, Forman A, Gaber R, Gulden C, Horte J, Long JM, Lucas T, Madaan S, Mattie K, McKenna D, Montgomery S, Nielsen S, Powers J, Rainey K, Rybak C, Savage M, Seelaus C, Stoll J, Stopfer JE, Yao XS.
    • J Natl Cancer Inst. 2018 Sep 1;110(9):985-993. doi: 10.1093/jnci/djy015.
    • A Clinical Decision Support Tool to Predict Cancer Risk for Commonly Tested Cancer-Related Germline Mutations.
    • Braun D, Yang J, Griffin M, Parmigiani G, Hughes KS.
    • J Genet Couns. 2018 Sep;27(5):1187-1199. doi: 10.1007/s10897-018-0238-4. Epub 2018 Mar 2.
    • Breast Cancer Surgical Risk Reduction for Patients With Inherited Mutations in Moderate Penetrance Genes.
    • Weiss A, Garber JE, King T.
    • JAMA Surg. 2018 Aug 29. doi: 10.1001/jamasurg.2018.2493. [Epub ahead of print]
    • Review
    • Differences in TP53 Mutation Carrier Phenotypes Emerge From Panel-Based Testing.
    • Rana HQ, Gelman R, LaDuca H, McFarland R, Dalton E, Thompson J, Speare V, Dolinsky JS, Chao EC, Garber JE.
    • J Natl Cancer Inst. 2018 Aug 1;110(8):863-870. doi: 10.1093/jnci/djy001.

    Related:

    Editorial:

    Testing Positive on a Multigene Panel Does Not Suffice to Determine Disease Risks.

    • Returning Individual Genetic Research Results to Research Participants: Uptake and Outcomes Among Patients With Breast Cancer.
    • Bradbury AR, Patrick-Miller L, Egleston BL, Maxwell KN, DiGiovanni L, Brower J, Fetzer D, Bennett Gaieski J, Brandt A, McKenna D, Long J, Powers J, Stopfer JE, Nathanson KL, Domchek SM.
    • JCO Precis Oncol. 2018;2. doi: 10.1200/po.17.00250. Epub 2018 Apr 16.
    • 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.
    • Breadth of Genetic Testing Selected by Patients at Risk of Hereditary Breast and Ovarian Cancer.
    • Szender JB, Kaur J, Clayback K, Hutton ML, Mikkelson J, Odunsi K, Dresbold C.
    • Int J Gynecol Cancer. 2018 Jan;28(1):26-33. doi: 10.1097/IGC.0000000000001122.
    • Cancer Genetic Counseling and Testing in an Era of Rapid Change.
    • Hooker GW, Clemens KR, Quillin J, Vogel Postula KJ, Summerour P, Nagy R, Buchanan AH.
    • J Genet Couns. 2017 Dec;26(6):1244-1253. doi: 10.1007/s10897-017-0099-2. Epub 2017 Apr 22.
    • Genetic Testing: Challenges and Changes in Testing for Hereditary Cancer Syndromes.
    • King E, Mahon SM.
    • Clin J Oncol Nurs. 2017 Oct 1;21(5):589-598. doi: 10.1188/17.CJON.589-598.
    • 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.

    Related:

    Letter:

    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

    Related:

    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
    • Factors Associated with Interest in Gene-Panel Testing and Risk Communication Preferences in Women from BRCA1/2 Negative Families.
    • Flores KG, Steffen LE, McLouth CJ, Vicuña BE, Gammon A, Kohlmann W, Vigil L, Dayao ZR, Royce ME, Kinney AY.
    • J Genet Couns. 2017 Jun;26(3):480-490. doi: 10.1007/s10897-016-0001-7. Epub 2016 Aug 6.
    • 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.
    • A novel molecular diagnostics platform for somatic and germline precision oncology.
    • Cabanillas R, Diñeiro M, Castillo D, Pruneda PC, Penas C, Cifuentes GA, de Vicente Á, Durán NS, Álvarez R, Ordóñez GR, Cadiñanos J.
    • Mol Genet Genomic Med. 2017 Apr 23;5(4):336-359. doi: 10.1002/mgg3.291. eCollection 2017 Jul.
    • The Clinical Utility of Next Generation Sequencing Results in a Community-Based Hereditary Cancer Risk Program.
    • Bunnell AE, Garby CA, Pearson EJ, Walker SA, Panos LE, Blum JL.
    • J Genet Couns. 2017 Feb;26(1):105-112. doi: 10.1007/s10897-016-9985-2. Epub 2016 Jun 9.
    • 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.
    • Primary Peritoneal Carcinoma in a BRCA1/2-negative, PALB2-positive patient.
    • Kahn R, Garcia-Soto A, Silva-Smith R, Pinto A, George SH.
    • Gynecol Oncol Rep. 2016 Aug 2;17:93-5. doi: 10.1016/j.gore.2016.08.001. eCollection 2016.
    • Panel Testing Is Not a Panacea.
    • Axilbund JE.
    • J Clin Oncol. 2016 May 1;34(13):1433-5. doi: 10.1200/JCO.2015.65.5522. Epub 2016 Mar 14.

    Related:

    Letter

    Multigene Panels to Evaluate Hereditary Cancer Risk: Reckless or Relevant?

    • Panel Testing for Familial Breast Cancer: Calibrating the Tension Between Research and Clinical Care.
    • Thompson ER, Rowley SM, Li N, McInerny S, Devereux L, Wong-Brown MW, Trainer AH, Mitchell G, Scott RJ, James PA, Campbell IG.
    • J Clin Oncol. 2016 May 1;34(13):1455-9. doi: 10.1200/JCO.2015.63.7454. Epub 2016 Jan 19.

    Related:

    Comments on NSGC Discussion Forum Cancer SIG

    Subject: Article request

    Subject: Article request

    Press: Caution Urged in Interpreting Breast Cancer Gene Panels at Individual Level (Medscape/Reuters)

    • BRCA 1/2-negative patients who receive counseling after genetic testing have lower anxiety.
    • Printz C.
    • Cancer. 2016 Apr 15;122(8):1149. doi: 10.1002/cncr.30002.
    • A new paradigm of genetic testing for hereditary breast/ovarian cancers.
    • Kwong A, Chen JW, Shin VY.
    • Hong Kong Med J. 2016 Apr;22(2):171-7. doi: 10.12809/hkmj154634. Epub 2016 Mar 14.
    • Gene panel testing for hereditary breast cancer.
    • Winship I, Southey MC.
    • Med J Aust. 2016 Mar 21;204(5):188-90.
    • Genetic/Familial High-Risk Assessment: Breast and Ovarian, Version 2.2015.
    • Daly MB, Pilarski R, Axilbund JE, Berry M, Buys SS, Crawford B, Farmer M, Friedman S, Garber JE, Khan S, Klein C, Kohlmann W, Kurian A, Litton JK, Madlensky L, Marcom PK, Merajver SD, Offit K, Pal T, Rana H, Reiser G, Robson ME, Shannon KM, Swisher E, Voian NC, Weitzel JN, Whelan A, Wick MJ, Wiesner GL, Dwyer M, Kumar R, Darlow S.
    • J Natl Compr Canc Netw. 2016 Feb;14(2):153-62.

    Related:

    Comments on NSGC Discussion Forum Cancer SIG

    Subject: NCCN High-Risk Breast-Ovarian Guidelines 1.2016

    • Genetic screening for gynecological cancer: where are we heading?
    • Manchanda R, Jacobs I.
    • Future Oncol. 2016 Jan;12(2):207-20. doi: 10.2217/fon.15.278. Epub 2015 Dec 7.
    • Editorial / Commentary
    • Patient feedback and early outcome data with a novel tiered-binned model for multiplex breast cancer susceptibility testing.
    • Bradbury AR, Patrick-Miller LJ, Egleston BL, DiGiovanni L, Brower J, Harris D, Stevens EM, Maxwell KN, Kulkarni A, Chavez T, Brandt A, Long JM, Powers J, Stopfer JE, Nathanson KL, Domchek SM.
    • Genet Med. 2016 Jan;18(1):25-33. doi: 10.1038/gim.2015.19. Epub 2015 Apr 2.
    • Breast Cancer Risk Assessment: Moving Beyond BRCA 1 and 2.
    • Scalia-Wilbur J, Colins BL, Penson RT, Dizon DS.
    • Semin Radiat Oncol. 2016 Jan;26(1):3-8. doi: 10.1016/j.semradonc.2015.09.004. Epub 2015 Sep 4.
    • UK BRCA mutation testing in patients with ovarian cancer.
    • George A.
    • Br J Cancer. 2015 Dec 15;113(S1):S17-S21. doi: 10.1038/bjc.2015.396.
    • Review
    • Utilization of Next Generation Multi-gene Panels Versus Single Gene Testing.
    • Zenas Chang, Jenny Backman, Sara Carroll, M. Heather Einstein.
    • Gynecologic Oncology. 2015 Dec;139(3):584. 2015 NEAGO ABSTRACTS. doi: 10.1016/j.ygyno.2015.09.023.
    • Conference abstract
    • 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.
    • Treatment Decision Making and Genetic Testing for Breast Cancer: Mainstreaming Mutations.
    • Katz SJ, Kurian AW, Morrow M.
    • JAMA. 2015 Sep 8;314(10):997-998. doi: 10.1001/jama.2015.8088.
    • Editorial / Commentary
    • Testing for Hereditary Breast Cancer: Panel or Targeted Testing? Experience from a Clinical Cancer Genetics Practice.
    • Doherty J, Bonadies DC, Matloff ET.
    • J Genet Couns. 2015 Aug;24(4):683-7. doi: 10.1007/s10897-014-9796-2. Epub 2014 Dec 5.
    • The Challenges of Incorporating Gene Panels Into Clinical Practice.
    • Kate M. O'Rourke.
    • Medscape Oncology. American Society of Clinical Oncology (ASCO) 2015 Annual Meeting. 2015 Jun 22.
    • Multiplex genetic testing: reconsidering utility and informed consent in the era of next-generation sequencing.
    • Bradbury AR, Patrick-Miller L, Domchek S.
    • Genet Med. 2015 Feb;17(2):97-98. doi: 10.1038/gim.2014.85. Epub 2014 Jul 17.
    • Panel testing for inherited susceptibility to breast, ovarian, and colorectal cancer.
    • Domchek SM, Nathanson KL.
    • Genet Med. 2014 Nov;16(11):827-9. doi: 10.1038/gim.2014.56. Epub 2014 Jul 3.

    Related:

    Podcast: The Use of Gene Panels in Diagnostic Next Generation Sequencing. (Genetics in Medicine GenePod)

    Archive

    • Utilization of multigene panels in hereditary cancer predisposition testing: analysis of more than 2,000 patients.
    • LaDuca H, Stuenkel AJ, Dolinsky JS, Keiles S, Tandy S, Pesaran T, Chen E, Gau CL, Palmaer E, Shoaepour K, Shah D, Speare V, Gandomi S, Chao E.
    • Genet Med. 2014 Nov;16(11):830-837. doi: 10.1038/gim.2014.40. Epub 2014 Apr 24.

    Related:

    Commentary:

    Panel testing for inherited susceptibility to breast, ovarian, and colorectal cancer.

    Podcast: The Use of Gene Panels in Diagnostic Next Generation Sequencing. (Genetics in Medicine GenePod)

    Archive

    • 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.
    • Benefits, Beneficence, and Bending Ethics: Questionable Billing Practices for Multigene Panels?
    • Robert Resta.
    • The DNA Exchange, 2014 Sep 28.
    • Breast cancer genetic screening offers vital information, uncertainty.
    • Judy Peres.
    • Chicago Tribune, 2014 Sep 25.
    • Press article

    Related:

    Comments on NSGC Discussion Forum Cancer SIG

    Subject: NYT Article on Panel Testing- Risks, not answers

    • 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.
    • An investigation of genetic counselors' testing recommendations: pedigree analysis and the use of multiplex breast cancer panel testing.
    • Lundy MG, Forman A, Valverde K, Kessler L.
    • J Genet Couns. 2014 Aug;23(4):618-32. doi: 10.1007/s10897-014-9692-9. Epub 2014 Feb 27.
    • 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.

    Related:

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

    • Opportunities and challenges of next-generation DNA sequencing for breast units.
    • Pilgrim SM, Pain SJ, Tischkowitz MD.
    • Br J Surg. 2014 Jul;101(8):889-98. doi: 10.1002/bjs.9458. Epub 2014 Mar 27.

    Related:

    News

    Transforming Breast Cancer Care with NGS

    • Screening an Asymptomatic Person for Genetic Risk.
    • [No authors listed]
    • N Engl J Med. 2014 Jun 19;370(25):2442-2445.

    Related:

    Comments on NSGC Discussion Forum

    Subject: New England Journal of Medicine article/discussion on Screening an Asymptomatic Person for Genetic R

    • 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

    Related:

    Comments on NSGC Discussion Forum Cancer SIG

    Subject: Article request multigene panels

    • Genetic counseling for breast cancer risk: how did we get here and where are we going?
    • Lang KA.
    • Expert Rev Mol Diagn. 2013 Jul;13(6):541-51. doi: 10.1586/14737159.2013.811903.