Family — Ascertainment for HBOC Testing ~ Genetic Testing
~ Genetics of Breast & Ovarian Cancer

Means of identifying and testing of family members of individuals tested for HBOC

List was last updated on Dec 3, 2019 @ 7:35 pm.


    • Hereditary Cancer Syndromes and Risk Assessment: ACOG COMMITTEE OPINION, Number 793.
    • [No authors listed]
    • Obstet Gynecol. 2019 Dec;134(6):e143-e149. doi: 10.1097/AOG.0000000000003562.

    Summary:

    Hereditary Cancer Syndromes and Risk Assessment: ACOG COMMITTEE OPINION SUMMARY, Number 793.

    • Low rates of cascade genetic testing among families with hereditary gynecologic cancer: An opportunity to improve cancer prevention.
    • Griffin NE, Buchanan TR, Smith SH, Leon AA, Meyer MF, Liu J, Tabak RG, Fuh KC, Thaker PH, Powell MA, Mutch DG, Massad LS, Colditz GA, Hagemann AR.
    • Gynecol Oncol. 2019 Nov 25. pii: S0090-8258(19)31626-9. doi: 10.1016/j.ygyno.2019.11.005. [Epub ahead of print]
    • Calling on Primary Care to Prevent BRCA-Related Cancers.
    • Armstrong K.
    • J Gen Intern Med. 2019 Oct 21. doi: 10.1007/s11606-019-05469-7. [Epub ahead of print]
    • How to inform relatives at risk of hereditary diseases? A mixed-methods systematic review on patient attitudes.
    • van den Heuvel LM, Smets EMA, van Tintelen JP, Christiaans I.
    • J Genet Couns. 2019 Oct;28(5):1042-1058. doi: 10.1002/jgc4.1143. Epub 2019 Jun 19.
    • Review
    • Familial disclosure by genetic healthcare professionals: a useful but sparingly used legal provision in France.
    • Derbez B, de Pauw A, Stoppa-Lyonnet D, Galactéros F, de Montgolfier S.
    • J Med Ethics. 2019 Aug 28. pii: medethics-2018-105212. doi: 10.1136/medethics-2018-105212. [Epub ahead of print]
    • The Genetic Education for Men (GEM) Trial: Development of Web-Based Education for Untested Men in BRCA1/2-Positive Families.
    • Peshkin BN, Ladd MK, Isaacs C, Segal H, Jacobs A, Taylor KL, Graves KD, O'Neill SC, Schwartz MD.
    • J Cancer Educ. 2019 Aug 11. doi: 10.1007/s13187-019-01599-y. [Epub ahead of print]
    • Uptake of genetic counseling among adult children of BRCA1/2 mutation carriers in France.
    • Gauna Cristaldo FB, Touzani R, Apostolidis T, Mouret-Fourme E, Stoppa-Lyonnet D, Lasset C, Fricker JP, Berthet P, Julian-Reynier C, Mancini J, Noguès C, Bouhnik AD.
    • Psychooncology. 2019 Jul 5. doi: 10.1002/pon.5169. [Epub ahead of print]
    • Prevalence of Suspected Hereditary Cancer Syndromes and Germline Mutations Among a Diverse Cohort of Probands Reporting a Family History of Prostate Cancer: Toward Informing Cascade Testing for Men.
    • Chandrasekar T, Gross L, Gomella LG, Hegarty SE, Leong JY, Giri VN.
    • Eur Urol Oncol. 2019 Jul 2. pii: S2588-9311(19)30085-9. doi: 10.1016/j.euo.2019.06.010. [Epub ahead of print]
    • [Hereditary Breast and Ovarian Cancer Syndrome].
    • Inuzuka M, Nakamura S.
    • Gan To Kagaku Ryoho. 2019 Jul;46(7):1109-1113.
    • Review, [Article in Japanese]
    • Psychosocial and clinical factors of probands impacting intrafamilial disclosure and uptake of genetic testing among 103 French families with BRCA1/2 or MMR gene mutations.
    • Alegre N, Vande Perre P, Bignon YJ, Michel A, Galibert V, Mophawe O, Corsini C, Coupier I, Chiesa J, Robert L, Bernhard L, Picot MC, Bertet H, Macioce V, Bastide N, Solassol J, Rey JM, Thomas F, Carton S, Pujol P.
    • Psychooncology. 2019 Jun 1. doi: 10.1002/pon.5142. [Epub ahead of print]
    • [Risks of Solid Tumors in Heterozygous Carriers of Recessive Syndromes.]
    • Koudová M, Puchmajerová A.
    • Klin Onkol. 2019 Summer;32(Supplementum2):14-23. doi: 10.14735/amko2019S14.
    • Talking across generations: Family communication about BRCA1 and BRCA2 genetic cancer risk.
    • Young AL, Butow PN, Rhodes P, Tucker KM, Williams R, Healey E, Wakefield CE.
    • J Genet Couns. 2019 Jun;28(3):516-532. doi: 10.1002/jgc4.1055. Epub 2019 Jan 29.
    • 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
    • Recommendations for the implementation of BRCA testing in ovarian cancer patients and their relatives.
    • Gori S, Barberis M, Bella MA, Buttitta F, Capoluongo E, Carrera P, Colombo N, Cortesi L, Genuardi M, Gion M, Guarneri V, Incorvaia L, La Verde N, Lorusso D, Marchetti A, Marchetti P, Normanno N, Pasini B, Pensabene M, Pignata S, Radice P, Ricevuto E, Sapino A, Tagliaferri P, Tassone P, Trevisiol C, Truini M, Varesco L, Russo A; AIOM-SIGU-SIBIOC-SIAPEC-IAP Working Group.
    • Crit Rev Oncol Hematol. 2019 May 25;140:67-72. doi: 10.1016/j.critrevonc.2019.05.012. [Epub ahead of print]
    • Multidisciplinary interventions in a specialist Drug Development Unit to improve family history documentation and onward referral of patients with advanced cancer to cancer genetics services.
    • Moss CA, Cojocaru E, Hanwell J, Ward S, Xu W, van Zyl M, O'Leary L, de Bono JS, Banerji U, Kaye SB, Minchom A, George AJ, Lopez J, McVeigh TP.
    • Eur J Cancer. 2019 May 9;114:97-106. doi: 10.1016/j.ejca.2019.04.009. [Epub ahead of print]
    • Evaluation of Cancer-Based Criteria for Use in Mainstream BRCA1 and BRCA2 Genetic Testing in Patients With Breast Cancer.
    • Kemp Z, Turnbull A, Yost S, Seal S, Mahamdallie S, Poyastro-Pearson E, Warren-Perry M, Eccleston A, Tan MM, Teo SH, Turner N, Strydom A, George A, Rahman N.
    • JAMA Netw Open. 2019 May 3;2(5):e194428. doi: 10.1001/jamanetworkopen.2019.4428.
    • Targeted capture-based NGS is superior to multiplex PCR-based NGS for hereditary BRCA1 and BRCA2 gene analysis in FFPE tumor samples.
    • Zakrzewski F, Gieldon L, Rump A, Seifert M, Grützmann K, Krüger A, Loos S, Zeugner S, Hackmann K, Porrmann J, Wagner J, Kast K, Wimberger P, Baretton G, Schröck E, Aust D, Klink B.
    • BMC Cancer. 2019 Apr 27;19(1):396. doi: 10.1186/s12885-019-5584-6.
    • Family communication and patient distress after germline genetic testing in individuals with pancreatic ductal adenocarcinoma.
    • Peters MLB, Stobie L, Dudley B, Karloski E, Allen K, Speare V, Dolinsky JS, Tian Y, DeLeonardis K, Krejdovsky J, Button A, Lim C, Borazanci E, Brand R, Tung N.
    • Cancer. 2019 Apr 12. doi: 10.1002/cncr.32077. [Epub ahead of print]
    • Germline Genetic Testing: What the Breast Surgeon Needs to Know.
    • Plichta JK, Sebastian ML, Smith LA, Menendez CS, Johnson AT, Bays SM, Euhus DM, Clifford EJ, Jalali M, Kurtzman SH, Taylor WA, Hughes KS.
    • Ann Surg Oncol. 2019 Apr 2. doi: 10.1245/s10434-019-07341-8. [Epub ahead of print]
    • A clinically structured and partnered approach to genetic testing in Trinidadian women with breast cancer and their families.
    • Donenberg T, George S, Ali J, Bravo G, Hernandez K, Sookar N, Ashing KT, Narod SA, Akbari MR, Hurley J.
    • Breast Cancer Res Treat. 2019 Apr;174(2):469-477. doi: 10.1007/s10549-018-5045-y. Epub 2018 Dec 4.
    • Electronically ascertained extended pedigrees in breast cancer genetic counseling.
    • Stefansdottir V, Skirton H, Johannsson OT, Olafsdottir H, Olafsdottir GH, Tryggvadottir L, Jonsson JJ.
    • Fam Cancer. 2019 Apr;18(2):153-160. doi: 10.1007/s10689-018-0105-3.
    • Population-based genetic testing of asymptomatic women for breast and ovarian cancer susceptibility.
    • Rowley SM, Mascarenhas L, Devereux L, Li N, Amarasinghe KC, Zethoven M, Lee JEA, Lewis A, Morgan JA, Limb S, Young MA, James PA, Trainer AH, Campbell IG.
    • Genet Med. 2019 Apr;21(4):913-922. doi: 10.1038/s41436-018-0277-0. Epub 2018 Sep 26.
    • A patient-centered mobile health application to motivate use of genetic counseling among women with ovarian cancer: A pilot randomized controlled trial.
    • Vogel RI, Niendorf K, Petzel S, Lee H, Teoh D, Blaes AH, Argenta P, Rivard C, Winterhoff B, Lee HY, Geller MA.
    • Gynecol Oncol. 2019 Apr;153(1):100-107. doi: 10.1016/j.ygyno.2019.01.019. Epub 2019 Feb 1.
    • Disparities in gynecologic cancer genetics evaluation.
    • Hinchcliff EM, Bednar EM, Lu KH, Rauh-Hain JA.
    • Gynecol Oncol. 2019 Apr;153(1):184-191. doi: 10.1016/j.ygyno.2019.01.024. Epub 2019 Jan 31.
    • Review
    • Targeting DNA Repair Defects for Precision Medicine in Prostate Cancer.
    • Athie A, Arce-Gallego S, Gonzalez M, Morales-Barrera R, Suarez C, Casals Galobart T, Hernandez Viedma G, Carles J, Mateo J.
    • Curr Oncol Rep. 2019 Mar 27;21(5):42. doi: 10.1007/s11912-019-0790-6.
    • Review
    • Evaluation of the template letter regarding the disclosure of genetic information within the family in France.
    • Zordan C, Monteil L, Haquet E, Cordier C, Toussaint E, Roche P, Dorian V, Maillard A, Lhomme E, Richert L, Pasquier L, Akloul L, Taris N, Lacombe D.
    • J Community Genet. 2019 Mar 27. doi: 10.1007/s12687-019-00418-7. [Epub ahead of print]
    • "It would be so much easier": health system-led genetic risk notification-feasibility and acceptability of cascade screening in an integrated system.
    • Henrikson NB, Blasi PR, Fullerton SM, Grafton J, Leppig KA, Jarvik GP, Larson EB.
    • J Community Genet. 2019 Mar 6. doi: 10.1007/s12687-019-00412-z. [Epub ahead of print]
    • RE: Cascade Genetic Testing of Relatives for Hereditary Cancer Risk: Results of an Online Initiative.
    • Peshkin BN, Isaacs C, Schwartz MD.
    • J Natl Cancer Inst. 2019 Mar 5. pii: djz028. doi: 10.1093/jnci/djz028. [Epub ahead of print]

    Letter, reply:

    Response to Peshkin, Isaacs, and Schwartz.

    Original research:

    Cascade Genetic Testing of Relatives for Hereditary Cancer Risk: Results of an Online Initiative.

    • BRCA mutation testing for first-degree relatives of women with high-grade serous ovarian cancer.
    • Kwon JS, Tinker AV, Hanley GE, Pansegrau G, Sun S, Carey MS, Schrader I.
    • Gynecol Oncol. 2019 Mar;152(3):459-464. doi: 10.1016/j.ygyno.2018.10.014.
    • Major clinical research advances in gynecologic cancer in 2018.
    • Kim M, Suh DH, Lee KH, Eom KY, Toftdahl NG, Mirza MR, Kim JW.
    • J Gynecol Oncol. 2019 Mar;30(2):e18. doi: 10.3802/jgo.2019.30.e18.
    • Germline genetic testing for inherited prostate cancer in practice: Implications for genetic testing, precision therapy, and cascade testing.
    • Giri VN, Hegarty SE, Hyatt C, O'Leary E, Garcia J, Knudsen KE, Kelly WK, Gomella LG.
    • Prostate. 2019 Mar;79(4):333-339. doi: 10.1002/pros.23739. Epub 2018 Nov 18.
    • Metastatic Prostate Cancer: Effects of Genetic Testing on Care.
    • Connors LM.
    • Clin J Oncol Nurs. 2019 Feb 1;23(1):32-35. doi: 10.1188/19.CJON.32-35.
    • Review
    • A Pragmatic Testing-Eligibility Framework for Population Mutation Screening: The Example of BRCA1/2.
    • Best AF, Tucker MA, Frone MN, Greene MH, Peters JA, Katki HA.
    • Cancer Epidemiol Biomarkers Prev. 2019 Feb;28(2):293-302. doi: 10.1158/1055-9965.EPI-18-0584. Epub 2019 Jan 28.
    • Challenges and Opportunities for Cancer Predisposition Cascade Screening for Hereditary Breast and Ovarian Cancer and Lynch Syndrome in Switzerland: Findings from an International Workshop.
    • Nikolaidis C, Ming C, Pedrazzani C, van der Horst T, Kaiser-Grolimund A, Ademi Z, Bührer-Landolt R, Bürki N, Caiata-Zufferey M, Champion V, Chappuis PO, Kohler C, Erlanger TE, Graffeo R, Hampel H, Heinimann K, Heinzelmann-Schwarz V, Kurzeder C, Monnerat C, Northouse LL, Pagani O, Probst-Hensch N, Rabaglio M, Schoenau E, Sijbrands EJG, Taborelli M, Urech C, Viassolo V, Wieser S, Katapodi MC; for the CASCADE Consortium.
    • Public Health Genomics. 2019 Jan 29:1-12. doi: 10.1159/000496495. [Epub ahead of print]
    • Targeted surgical prevention of epithelial ovarian cancer is cost effective and saves money in BRCA mutation carrying family members of women with epithelial ovarian cancer. A Canadian model.
    • Hoskins P, Eccleston A, Hurry M, Dyer M.
    • Gynecol Oncol. 2019 Jan 28. pii: S0090-8258(19)30061-7. doi: 10.1016/j.ygyno.2019.01.018. [Epub ahead of print]
    • Cascade Genetic Testing of Relatives for Hereditary Cancer Risk: Results of an Online Initiative.
    • Caswell-Jin JL, Zimmer AD, Stedden W, Kingham KE, Zhou AY, Kurian AW.
    • J Natl Cancer Inst. 2019 Jan 1;111(1):95-98. doi: 10.1093/jnci/djy147.

    Letter, comment:

    RE: Cascade Genetic Testing of Relatives for Hereditary Cancer Risk: Results of an Online Initiative.

    Letter, reply:

    Response to Peshkin, Isaacs, and Schwartz.

    • The Role of BRCA Testing in Hereditary Pancreatic and Prostate Cancer Families.
    • Pilarski R.
    • Am Soc Clin Oncol Educ Book. 2019 Jan;(39):79-86. doi: 10.1200/EDBK_238977.
    • The uptake of presymptomatic genetic testing in hereditary breast-ovarian cancer and Lynch syndrome: a systematic review of the literature and implications for clinical practice.
    • Menko FH, Ter Stege JA, van der Kolk LE, Jeanson KN, Schats W, Moha DA, Bleiker EMA.
    • Fam Cancer. 2019 Jan;18(1):127-135. doi: 10.1007/s10689-018-0089-z.
    • Review
    • Cost effectiveness of the cancer prevention program for carriers of the BRCA1/2 mutation.
    • Ramos MCA, Folgueira MAAK, Maistro S, Campolina AG, Soárez PC, Bock GH, Novaes HMD, Diz MDPE.
    • Rev Saude Publica. 2018 Nov 29;52:94. doi: 10.11606/S1518-8787.2018052000643.
    • Familial communication and cascade testing among relatives of BRCA population screening participants.
    • Lieberman S, Lahad A, Tomer A, Koka S, BenUziyahu M, Raz A, Levy-Lahad E.
    • Genet Med. 2018 Nov;20(11):1446-1454. doi: 10.1038/gim.2018.26. Epub 2018 Mar 29.
    • Germline and somatic genetic testing in ovarian cancer patients.
    • Chandrasekaran D, Manchanda R.
    • BJOG. 2018 Oct;125(11):1460. doi: 10.1111/1471-0528.15225. Epub 2018 May 10.
    • Commentary
    • Cost-effectiveness analysis of germ-line BRCA testing in women with breast cancer and cascade testing in family members of mutation carriers.
    • Tuffaha HW, Mitchell A, Ward RL, Connelly L, Butler JRG, Norris S, Scuffham PA.
    • Genet Med. 2018 Sep;20(9):985-994. doi: 10.1038/gim.2017.231. Epub 2018 Jan 4.
    • Inadequate Rates of BRCA Testing with its Negative Consequences for Women with Epithelial Ovarian Cancer and their Families: an Overview of the Literature.
    • Hoskins PJ.
    • Clin Oncol (R Coll Radiol). 2018 Aug;30(8):472-483. doi: 10.1016/j.clon.2018.04.004. Epub 2018 May 5.
    • Review
    • Current detection rates and time-to-detection of all identifiable BRCA carriers in the Greater London population.
    • Manchanda R, Blyuss O, Gaba F, Gordeev VS, Jacobs C, Burnell M, Gan C, Taylor R, Turnbull C, Legood R, Zaikin A, Antoniou AC, Menon U, Jacobs I.
    • J Med Genet. 2018 Aug;55(8):538-545. doi: 10.1136/jmedgenet-2017-105195. Epub 2018 Apr 5.
    • The resounding effect of DNA repair deficiency in prostate cancer.
    • Cheng HH.
    • Urol Oncol. 2018 Aug;36(8):385-388. doi: 10.1016/j.urolonc.2018.02.014. Epub 2018 Mar 17.
    • Review
    • Development of a Web-based Family Intervention for BRCA Carriers and Their Biological Relatives: Acceptability, Feasibility, and Usability Study.
    • Katapodi MC, Jung M, Schafenacker AM, Milliron KJ, Mendelsohn-Victor KE, Merajver SD, Northouse LL.
    • JMIR Cancer. 2018 Apr 13;4(1):e7. doi: 10.2196/cancer.9210.
    • A population-based analysis of germline BRCA1 and BRCA2 testing among ovarian cancer patients in an era of histotype-specific approaches to ovarian cancer prevention.
    • Hanley GE, McAlpine JN, Miller D, Huntsman D, Schrader KA, Blake Gilks C, Mitchell G.
    • BMC Cancer. 2018 Mar 5;18(1):254. doi: 10.1186/s12885-018-4153-8.
    • Paternal lineage early onset hereditary ovarian cancers: A Familial Ovarian Cancer Registry study.
    • Eng KH, Szender JB, Etter JL, Kaur J, Poblete S, Huang RY, Zhu Q, Grzesik KA, Battaglia S, Cannioto R, Krolewski JJ, Zsiros E, Frederick PJ, Lele SB, Moysich KB, Odunsi KO.
    • PLoS Genet. 2018 Feb 15;14(2):e1007194. doi: 10.1371/journal.pgen.1007194. eCollection 2018 Feb.
    • Genetic Testing: Multiple Problems to Solve.
    • Ramos E, Haidle JL.
    • J Clin Oncol. 2018 Feb 10;36(5):518-519. doi: 10.1200/JCO.2017.76.0942. Epub 2018 Jan 2.

    Editorial:

    Genetic Testing: What Problem Are We Trying to Solve?

    Letter, Reply:

    Reply to E. Ramos et al.

    • Estimating the number of potential family members eligible for BRCA1 and BRCA2 mutation testing in a "Traceback" approach.
    • Moss HA, Samimi G, Havrilesky LJ, Sherman ME, Myers ER.
    • Genet Epidemiol. 2018 Feb;42(1):117-122. doi: 10.1002/gepi.22095. Epub 2017 Nov 30.
    • Genetic variants of prospectively demonstrated phenocopies in BRCA1/2 kindreds.
    • Dominguez-Valentin M, Evans DGR, Nakken S, Tubeuf H, Vodak D, Ekstrøm PO, Nissen AM, Morak M, Holinski-Feder E, Martins A, Møller P, Hovig E.
    • Hered Cancer Clin Pract. 2018 Jan 15;16:4. doi: 10.1186/s13053-018-0086-0. eCollection 2018.
    • Improving attendance to genetic counselling services for gynaecological oncology patients.
    • Pokharel HP, Hacker NF, Andrews L.
    • Gynecol Oncol Res Pract. 2018 Jan 10;5:2. doi: 10.1186/s40661-018-0059-z. eCollection 2018.
    • ACOG Committee Opinion No. 727: Cascade Testing: Testing Women for Known Hereditary Genetic Mutations Associated With Cancer.
    • [No authors listed]
    • Obstet Gynecol. 2018 Jan;131(1):e31-e34. doi: 10.1097/AOG.0000000000002457.

    Summary:

    ACOG Committee Opinion No. 727 Summary: Cascade Testing: Testing Women For Known Hereditary Genetic Mutations Associated With Cancer.

    Press: 'Cascade Testing' Important for Hereditary Gynecologic Cancers: ACOG (Medscape/Reuters)

    • Using family history forms in pediatric oncology to identify patients for genetic assessment.
    • Hamilton A, Smith E, Hamon J, Tomiak E, Bassal M, Sawyer SL.
    • Curr Oncol. 2017 Dec;24(6):e441-e445. doi: 10.3747/co.24.3710. Epub 2017 Dec 20.
    • Germline BRCA2 mutations detected in pediatric sequencing studies impact parents' evaluation and care.
    • Walsh MF, Kennedy J, Harlan M, Kentsis A, Shukla N, Musinsky J, Roberts S, Kung AL, Robson M, Kushner BH, Meyers P, Offit K.
    • Cold Spring Harb Mol Case Stud. 2017 Nov 21;3(6). pii: a001925. doi: 10.1101/mcs.a001925. Print 2017 Nov.
    • Traceback: leveraging archived biospecimens to identify mutation carriers.
    • Samimi G, Sherman ME.
    • Oncotarget. 2017 Oct 11;8(53):90628-90629. doi: 10.18632/oncotarget.21742. eCollection 2017 Oct 31.
    • Cancer Predisposition Cascade Screening for Hereditary Breast/Ovarian Cancer and Lynch Syndromes in Switzerland: Study Protocol.
    • Katapodi MC, Viassolo V, Caiata-Zufferey M, Nikolaidis C, Bührer-Landolt R5, Buerki N, Graffeo R, Horváth HC, Kurzeder C, Rabaglio M, Scharfe M, Urech C, Erlanger TE, Probst-Hensch N, Heinimann K, Heinzelmann-Schwarz V, Pagani O, Chappuis PO.
    • JMIR Res Protoc. 2017 Sep 20;6(9):e184. doi: 10.2196/resprot.8138.
    • Barriers and Facilitating Factors for Implementation of Genetic Services: A Public Health Perspective.
    • Cornel MC, van El CG.
    • Front Public Health. 2017 Aug 4;5:195. doi: 10.3389/fpubh.2017.00195. eCollection 2017.
    • Multi-disciplinary summit on genetics services for women with gynecologic cancers: A Society of Gynecologic Oncology White Paper.
    • Randall LM, Pothuri B, Swisher EM, Diaz JP, Buchanan A, Witkop CT, Bethan Powell C, Smith EB, Robson ME, Boyd J, Coleman RL, Lu K.
    • Gynecol Oncol. 2017 Aug;146(2):217-224. doi: 10.1016/j.ygyno.2017.06.002. Epub 2017 Jun 7.
    • Identification of BRCA1 and BRCA2 Mutation Carriers Through a Traceback Framework: Consent, Privacy, and Autonomy.
    • Schwartz MD.
    • J Clin Oncol. 2017 Jul 10;35(20):2226-2228. doi: 10.1200/JCO.2017.72.8774. Epub 2017 May 2.

    Traceback: A Proposed Framework to Increase Identification and Genetic Counseling of BRCA1 and BRCA2 Mutation Carriers Through Family-Based Outreach.

    • Traceback: A Proposed Framework to Increase Identification and Genetic Counseling of BRCA1 and BRCA2 Mutation Carriers Through Family-Based Outreach.
    • Samimi G, Bernardini MQ, Brody LC, Caga-Anan CF, Campbell IG, Chenevix-Trench G, Couch FJ, Dean M, de Hullu JA, Domchek SM, Drapkin R, Spencer Feigelson H, Friedlander M, Gaudet MM, Harmsen MG, Hurley K, James PA, Kwon JS, Lacbawan F, Lheureux S, Mai PL, Mechanic LE, Minasian LM, Myers ER, Robson ME, Ramus SJ, Rezende LF, Shaw PA, Slavin TP, Swisher EM, Takenaka M, Bowtell DD, Sherman ME.
    • J Clin Oncol. 2017 Jul 10;35(20):2329-2337. doi: 10.1200/JCO.2016.70.3439. Epub 2017 Apr 11.

    Editorial:

    Identification of BRCA1 and BRCA2 Mutation Carriers Through a Traceback Framework: Consent, Privacy, and Autonomy.

    • Multi-gene panel testing for hereditary cancer predisposition in unsolved high-risk breast and ovarian cancer patients.
    • Crawford B, Adams SB, Sittler T, van den Akker J, Chan S, Leitner O, Ryan L, Gil E, van 't Veer L.
    • Breast Cancer Res Treat. 2017 Jun;163(2):383-390. doi: 10.1007/s10549-017-4181-0. Epub 2017 Mar 9.
    • A Cost-Effectiveness Evaluation of Germline BRCA1 and BRCA2 Testing in UK Women with Ovarian Cancer.
    • Eccleston A, Bentley A, Dyer M, Strydom A, Vereecken W, George A, Rahman N.
    • Value Health. 2017 Apr;20(4):567-576. doi: 10.1016/j.jval.2017.01.004. Epub 2017 Mar 3.
    • Recruiting families at risk for hereditary breast and ovarian cancer from a statewide cancer registry: a methodological study.
    • Katapodi MC, Duquette D, Yang JJ, Mendelsohn-Victor K, Anderson B, Nikolaidis C, Mancewicz E, Northouse LL, Duffy S, Ronis D, Milliron KJ, Probst-Herbst N, Merajver SD, Janz NK, Copeland G, Roberts S.
    • Cancer Causes Control. 2017 Mar;28(3):191-201. doi: 10.1007/s10552-017-0858-2. Epub 2017 Feb 14.
    • Pedigree and BRCA gene analysis in breast cancer patients to identify hereditary breast and ovarian cancer syndrome to prevent morbidity and mortality of disease in Indian population.
    • Darooei M, Poornima S, Salma BU, Iyer GR, Pujar AN, Annapurna S, Shah A, Maddali S, Hasan Q.
    • Tumour Biol. 2017 Feb;39(2):1010428317694303. doi: 10.1177/1010428317694303.
    • Which BRCA genetic testing programs are ready for implementation in health care? A systematic review of economic evaluations.
    • D'Andrea E, Marzuillo C, De Vito C, Di Marco M, Pitini E, Vacchio MR, Villari P.
    • Genet Med. 2016 Dec;18(12):1171-1180. doi: 10.1038/gim.2016.29. Epub 2016 Apr 14.
    • A cost analysis of a cancer genetic service model in the UK.
    • Slade I, Hanson H, George A, Kohut K, Strydom A, Wordsworth S, Rahman N; MCG programme.
    • J Community Genet. 2016 Jul;7(3):185-94. doi: 10.1007/s12687-016-0266-4. Epub 2016 Feb 27.
    • Discussion: Should We Test Minors For Hereditary Cancer Syndromes?
    • [No author given]
    • My Gene Counsel. 2016 May 2.
    • Which BRCA genetic testing programs are ready for implementation in health care? A systematic review of economic evaluations.
    • Elvira D’Andrea, Carolina Marzuillo, Corrado De Vito, Marco Di Marco, Erica Pitini, Maria Rosaria Vacchio, Paolo Villari.
    • Genet Med. 2016 Apr 14.
    • The impact of an interventional counselling procedure in families with a BRCA1/2 gene mutation: efficacy and safety.
    • Sermijn E, Delesie L, Deschepper E, Pauwels I, Bonduelle M, Teugels E, De Grève J.
    • Fam Cancer. 2016 Apr;15(2):155-62. doi: 10.1007/s10689-015-9854-4.
    • Cost-Effectiveness Analysis of Testing for Brca1 and Brca2 Mutations In Women Diagnosed With Ovarian Cancer and Their Female First- And Second Degree Relatives Using A Discrete Event Simulation: A Uk Health Service Perspective.
    • Eccleston A, Bentley A, Dyer M, Vereecken W, George A, Rahman .
    • Value Health. 2015 Nov;18(7):A361. doi: 10.1016/j.jval.2015.09.697. Epub 2015 Oct 20.
    • Strategies for recruitment of relatives of BRCA mutation carriers to a genetic testing program in the Bahamas.
    • Trottier M, Lunn J, Butler R, Curling D, Turnquest T, Royer R, Akbari MR, Donenberg T, Hurley J, Narod SA.
    • Clin Genet. 2015 Aug;88(2):182-6. doi: 10.1111/cge.12468. Epub 2014 Sep 6.
    • Testing helps fight ovarian, breast cancers—but not everyone agrees on how to do it.
    • Maria Delaney.
    • Ars Technica. 2015 Jul 1.
    • How Genetic Tests Can Reveal a Hidden Family History of Cancer.
    • [No author given]
    • NBC Nightly News. 2015 May 20.
    • Inherited mutations in 17 breast cancer susceptibility genes among a large triple-negative breast cancer cohort unselected for family history of breast cancer.
    • Couch FJ, Hart SN, Sharma P, Toland AE, Wang X, Miron P, Olson JE, Godwin AK, Pankratz VS, Olswold C, Slettedahl S, Hallberg E, Guidugli L, Davila JI, Beckmann MW, Janni W, Rack B, Ekici AB, Slamon DJ, Konstantopoulou I, Fostira F, Vratimos A, Fountzilas G, Pelttari LM, Tapper WJ, Durcan L, Cross SS, Pilarski R, Shapiro CL, Klemp J, Yao S, Garber J, Cox A, Brauch H, Ambrosone C, Nevanlinna H, Yannoukakos D, Slager SL, Vachon CM, Eccles DM, Fasching PA.
    • J Clin Oncol. 2015 Feb 1;33(4):304-11. doi: 10.1200/JCO.2014.57.1414. Epub 2014 Dec 1.

    Evolution of genetic testing for inherited susceptibility to breast cancer.

    • A primary care audit of familial risk in patients with a personal history of breast cancer.
    • Nathan P, Ahluwalia A, Chorley W.
    • Fam Cancer. 2014 Dec;13(4):591-4. doi: 10.1007/s10689-014-9737-0.
    • Linking distant relatives with BRCA gene mutations: potential for cost savings.
    • Senter L, O'Connor M, Oriyo F, Sweet K, Toland A.
    • Clin Genet. 2014 Jan;85(1):54-8. doi: 10.1111/cge.12211. Epub 2013 Jun 24.
    • Family Communication of BRCA1/2 Results and Family Uptake of BRCA1/2 Testing in a Diverse Population of BRCA1/2 Carriers.
    • Fehniger J, Lin F, Beattie MS, Joseph G, Kaplan C.
    • J Genet Couns. 2013 Oct;22(5):603-12. doi: 10.1007/s10897-013-9592-4. Epub 2013 May 12.
    • Lack of referral for genetic counseling and testing in BRCA1/2 and Lynch syndromes: a nationwide study based on 240,134 consultations and 134,652 genetic tests.
    • Pujol P, Lyonnet DS, Frebourg T, Blin J, Picot MC, Lasset C, Dugast C, Berthet P, de Paillerets BB, Sobol H, Grandjouan S, Soubrier F, Buecher B, Guimbaud R, Lidereau R, Jonveaux P, Houdayer C, Giraud S, Olschwang S, Nogue E, Galibert V, Bara C, Nowak F, Khayat D, Nogues C.
    • Breast Cancer Res Treat. 2013 Aug;141(1):135-44. doi: 10.1007/s10549-013-2669-9. Epub 2013 Aug 24.
    • Significant Under-Use of Genetic Testing for Inherited Cancers Puts Health of Entire Families at Risk.
    • [No author given].
    • ScienceDaily. 2013 Jun 7.
    • Using a state cancer registry to recruit young breast cancer survivors and high-risk relatives: protocol of a randomized trial testing the efficacy of a targeted versus a tailored intervention to increase breast cancer screening.
    • Katapodi MC, Northouse LL, Schafenacker AM, Duquette D, Duffy SA, Ronis DL, Anderson B, Janz NK, McLosky J, Milliron KJ, Merajver SD, Duong LM, Copeland G.
    • BMC Cancer. 2013 Mar 1;13:97. doi: 10.1186/1471-2407-13-97.
    • Proposed roadmap to stepwise integration of genetics in family medicine and clinical research.
    • Houwink EJ, Sollie AW, Numans ME, Cornel MC.
    • Clin Transl Med. 2013 Feb 16;2(1):5. doi: 10.1186/2001-1326-2-5.
    • BRCA1/2 testing: uptake, phenocopies, and strategies to improve detection rates in initially negative families.
    • Fischer C, Engel C, Sutter C, Zachariae S, Schmutzler R, Meindl A, Heidemann S, Grimm T, Goecke TO, Debatin I, Horn D, Wieacker P, Gadzicki D, Becker K, Schäfer D, Stock F, Voigtländer T; German Consortium for Hereditary Breast and Ovarian Cancer.
    • Clin Genet. 2012 Nov;82(5):478-83. doi: 10.1111/j.1399-0004.2011.01788.x. Epub 2011 Oct 19.
    • A multidisciplinary clinic for individualizing management of patients at increased risk for breast and gynecologic cancer.
    • Engel NJ, Gordon P, Thull DL, Dudley B, Herstine J, Jankowitz RC, Zorn KK.
    • Fam Cancer. 2012 Sep;11(3):419-27. doi: 10.1007/s10689-012-9530-x.
    • Grace Rock's consent.
    • Ross TS.
    • Endocr Relat Cancer. 2012 Jul 22;19(4):C29-31. doi: 10.1530/ERC-12-0186. Print 2012 Aug.