Panel Testing ~ Genetic Counseling
~ Genetics of Breast & Ovarian Cancer

Genetic counseling approaches used in panel testing for HBOC; to expand to include all manner of next-generation sequencing

List was last updated on Sep 1, 2019 @ 9:45 am.


    • 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
    • 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.

    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.

    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]
    • 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. 2018 Dec 22. pii: jmedgenet-2018-105700. doi: 10.1136/jmedgenet-2018-105700. [Epub ahead of print]
    • 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.

    Editorial:

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

    • 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.

    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

    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.

    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.

    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.

    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.

    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.

    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

    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.

    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.

    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.

    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

    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.