Uptake / Timing ~ Prophylactic Surgery
~ Genetics of Breast & Ovarian Cancer

List was last updated on Apr 17, 2021 @ 10:58 pm.


    • The Screen Project: Guided Direct-To-Consumer Genetic Testing for Breast Cancer Susceptibility in Canada.
    • Narod SA, Gojska N, Sun P, Tryon A, Kotsopoulos J, Metcalfe K, Akbari MR.
    • Cancers (Basel). 2021 Apr 15;13(8):E1894. doi: 10.3390/cancers13081894.
    • The Prevent Ovarian Cancer Program (POCP): Identification of women at risk for ovarian cancer using complementary recruitment approaches.
    • Tone AA, McCuaig JM, Ricker N, Boghosian T, Romagnuolo T, Stickle N, Virtanen C, Zhang T, Kim RH, Ferguson SE, May T, Laframboise S, Armel S, Demsky R, Volenik A, Stuart-McEwan T, Shaw P, Oza A, Kamel-Reid S, Stockley T, Bernardini MQ.
    • Gynecol Oncol. 2021 Apr 13:S0090-8258(21)00321-8. doi: 10.1016/j.ygyno.2021.04.011. Epub ahead of print.
    • Clinical management among individuals with variant of uncertain significance in hereditary cancer: A systematic review and meta-analysis.
    • Makhnoon S, Bednar EM, Krause KJ, Peterson SK, Lopez-Olivo MA.
    • Clin Genet. 2021 Apr 12. doi: 10.1111/cge.13966. Epub ahead of print.
    • Review
    • Financial constraints on genetic counseling and further risk-management decisions among U.S. women at elevated breast cancer risk.
    • Meadows RJ, Padamsee TJ.
    • J Genet Couns. 2021 Mar 21. doi: 10.1002/jgc4.1413. Epub ahead of print.
    • Uptake and efficacy of bilateral risk reducing surgery in unaffected female BRCA1 and BRCA2 carriers.
    • Marcinkute R, Woodward ER, Gandhi A, Howell S, Crosbie EJ, Wissely J, Harvey J, Highton L, Murphy J, Holland C, Edmondson R, Clayton R, Barr L, Harkness EF, Howell A, Lalloo F, Evans G.
    • J Med Genet. 2021 Feb 10:jmedgenet-2020-107356. doi: 10.1136/jmedgenet-2020-107356. Epub ahead of print.
    • Prophylactic Surgery in the BRCA+ Patient: Do Women Develop Breast Cancer While Waiting?
    • Macadam SA, Slater K, Cheifetz RE, Jansen L, Chia S, Brasher PMA, Bovill ES.
    • Curr Oncol. 2021 Jan 25;28(1):702-715. doi: 10.3390/curroncol28010069.
    • Screening and Preventative Strategies for Patients at High Risk for Breast Cancer.
    • Ter-Minassian M, Schaeffer ML, Jefferson CR, Shapiro SC, Suwannarat P, Visvanathan K.
    • JCO Oncol Pract. 2021 Jan 11:OP2000262. doi: 10.1200/OP.20.00262. Epub ahead of print.
    • Trends in Risk-Reducing Mastectomy and Risk-Reducing Salpingo-Oophorectomy in Korean Carriers of the BRCA1/2 Mutation.
    • Jung SM, Ryu JM, Park HS, Park JS, Kang E, Lee S, Lee HB, Youn HJ, Yoo TK, Kim J, Lee JE, Han SA, Kim D, Kim SW; Korean Hereditary Breast Cancer Study Group.
    • J Breast Cancer. 2020 Dec 3;23(6):647-655. doi: 10.4048/jbc.2020.23.e61.
    • Genotype-first approach to the detection of hereditary breast and ovarian cancer risk, and effects of risk disclosure to biobank participants.
    • Leitsalu L, Palover M, Sikka TT, Reigo A, Kals M, Pärn K, Nikopensius T, Esko T, Metspalu A, Padrik P, Tõnisson N.
    • Eur J Hum Genet. 2020 Nov 23. doi: 10.1038/s41431-020-00760-2. Epub ahead of print.
    • Cancer Previvors in an Active Duty Service Women Population: An Opportunity for Prevention and Increased Force Readiness.
    • Lovejoy LA, Turner CE, Shriver CD, Ellsworth RE.
    • Mil Med. 2020 Nov 18:usaa485. doi: 10.1093/milmed/usaa485. Epub ahead of print.
    • Concurrent Prophylactic Mastectomy, Immediate Reconstruction, and Salpingo-Oophorectomy in High-Risk Patients: A Case Series.
    • D'Abbondanza JA, George R, Kives S, Musgrave MA.
    • Plast Surg (Oakv). 2020 Nov;28(4):243-248. doi: 10.1177/2292550320928551. Epub 2020 Jun 4.
    • Preferences for breast cancer prevention among women with a BRCA1 or BRCA2 mutation.
    • Mansfield CA, Metcalfe KA, Snyder C, Lindeman GJ, Posner J, Friedman S, Cuningham K, Foundation Consortium for Research into Familial Breast Cancer, Lynch HT, Narod SA, Evans DG, Liede A.
    • Hered Cancer Clin Pract. 2020 Sep 29;18:20. doi: 10.1186/s13053-020-00152-z.
    • 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.
    • Expectations of Surveillance for Non-BRCA Gene Mutation Carriers at Increased Risk for Breast Cancer.
    • Caskey R, Singletary B, Ayre K, Parker C, Krontiras H, Lancaster RB.
    • J Surg Res. 2020 Jul 23;256:267-271. doi: 10.1016/j.jss.2020.06.029. Epub ahead of print.
    • Presymptomatic Awareness of Germline Pathogenic BRCA Variants and Associated Outcomes in Women With Breast Cancer.
    • Hadar T, Mor P, Amit G, Lieberman S, Gekhtman D, Rabinovitch R, Levy-Lahad E.
    • JAMA Oncol. 2020 Jul 9. doi: 10.1001/jamaoncol.2020.2059. Epub ahead of print.

    Related:

    Research news: Study Sees Survival Boost For BRCA1/2 Carriers Tested Before Breast Cancer Diagnosis. (GenomeWeb)

    • Canadian cost-effectiveness model of BRCA-driven surgical prevention of breast/ovarian cancers compared to treatment if cancer develops.
    • Hurry M, Eccleston A, Dyer M, Hoskins P
    • Int J Technol Assess Health Care. 2020 Apr;36(2):104-112. doi: 10.1017/S0266462319003519.
    • Healthcare Utilization and Costs after Receiving a Positive BRCA1/2 Result from a Genomic Screening Program.
    • Hao J, Hassen D, Manickam K, Murray MF, Hartzel DN, Hu Y, Liu K, Rahm AK, Williams MS, Lazzeri A, Buchanan A, Sturm A, Snyder SR.
    • J Pers Med. 2020 Feb 3;10(1). pii: E7. doi: 10.3390/jpm10010007.
    • Prospective Feasibility Trial of a Novel Strategy of Facilitated Cascade Genetic Testing Using Telephone Counseling.
    • Frey MK, Kahn RM, Chapman-Davis E, Tubito F, Pires , Christos P, Anderson S, Mukherjee S, Jordan B, Blank , Caputo TA, Sharaf , Offit K, Holcomb K, Lipkin S.
    • J Clin Oncol. 2020 Jan 10:JCO1902005. doi: 10.1200/JCO.19.02005. [Epub ahead of print]
    • Impact of Genetic Testing on Risk-Management Behavior of Black Breast Cancer Survivors: A Longitudinal, Observational Study.
    • Conley CC, Kasting ML, Augusto BM, Garcia JD, Cragun D, Gonzalez BD, Kim J, Ashing KT, Knott CL, Hughes-Halbert C, Pal T, Vadaparampil ST.
    • Ann Surg Oncol. 2019 Nov 1. doi: 10.1245/s10434-019-07982-9. [Epub ahead of print]
    • Clinical Management of Patients at Risk for Hereditary Breast Cancer with Variants of Uncertain Significance in the Era of Multigene Panel Testing.
    • Chang J, Seng S, Yoo J, Equivel P, Lum SS.
    • Ann Surg Oncol. 2019 Jul 24. doi: 10.1245/s10434-019-07595-2. [Epub ahead of print]
    • Risk-reducing surgery in BRCA1/BRCA2 mutation carriers: are there factors associated with the choice?
    • Manoukian S, Alfieri S, Bianchi E, Peissel B, Azzollini J, Borreani C.
    • Psychooncology. 2019 Jul 1. doi: 10.1002/pon.5166. [Epub ahead of print]
    • Clinical characteristics and outcomes in elderly women with BRCA1 and BRCA2 mutations.
    • Salyer C, Kobelka C, Barrie A, Weintraub MR, Powell CB.
    • Gynecol Oncol. 2019 May 31. pii: S0090-8258(19)31261-2. doi: 10.1016/j.ygyno.2019.05.017. [Epub ahead of print]
    • International trends in the uptake of cancer risk reduction strategies in women with a BRCA1 or BRCA2 mutation.
    • Metcalfe K, Eisen A, Senter L, Armel S, Bordeleau L, Meschino WS, Pal T, Lynch HT, Tung NM, Kwong A, Ainsworth P, Karlan B, Moller P, Eng C, Weitzel JN, Sun P, Lubinski J, Narod SA; Hereditary Breast Cancer Clinical Study Group.
    • Br J Cancer. 2019 Apr 11. doi: 10.1038/s41416-019-0446-1. [Epub ahead of print]

    Related:

    Editorial:

    Cancer screening and prevention in BRCA mutation carriers: a missed opportunity?

    • 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.
    • Selected medical interventions in women with a deleterious BRCA mutation: a population-based study in British Columbia.
    • Hanley GE, McAlpine JN, Cheifetz R, Schrader KA, McCullum M, Huntsman D.
    • Curr Oncol. 2019 Feb;26(1):e17-e23. doi: 10.3747/co.26.4068. Epub 2019 Feb 1.
    • High patient satisfaction with a simplified BRCA1/2 testing procedure: long-term results of a prospective study.
    • Nilsson MP, Nilsson ED, Borg Å, Brandberg Y, Silfverberg B, Loman N.
    • Breast Cancer Res Treat. 2019 Jan;173(2):313-318. doi: 10.1007/s10549-018-5000-y. Epub 2018 Oct 11.
    • Different Patterns of Risk Reducing Decisions in Affected or Unaffected BRCA Pathogenic Variant Carriers.
    • Lee EG, Kang HJ, Lim MC, Park B, Park SJ, Jung SY, Lee S, Kang HS, Park SY, Park B, Joo J, Han JH, Kong SY, Lee ES.
    • Cancer Res Treat. 2019 Jan;51(1):280-288. doi: 10.4143/crt.2018.079. Epub 2018 May 4.
    • False-positive screening events and worry influence decisions about surgery among high-risk women.
    • Andersen MR, Karlan BY, Drescher CW, Paley P, Hawley S, Palomares M, Daly MB, Urban N.
    • Health Psychol. 2019 Jan;38(1):43-52. doi: 10.1037/hea0000647. Epub 2018 Nov 15.
    • Satisfaction and Impact on Quality of Life of Clinical and Instrumental Surveillance and Prophylactic Surgery in BRCA-mutation Carriers.
    • D'Alonzo M, Piva E, Pecchio S, Liberale V, Modaffari P, Ponzone R, Biglia N.
    • Clin Breast Cancer. 2018 Dec;18(6):e1361-e1366. doi: 10.1016/j.clbc.2018.07.015. Epub 2018 Jul 26.
    • Hysterectomy at the time of risk-reducing surgery in BRCA carriers.
    • Nair N, Schwartz M, Guzzardi L, Durlester N, Pan S, Overbey J, Chuang L.
    • Gynecol Oncol Rep. 2018 Oct 6;26:71-74. doi: 10.1016/j.gore.2018.10.003. eCollection 2018 Nov.
    • Risk management adherence following genetic testing for hereditary cancer syndromes: a Singaporean experience.
    • Courtney E, Chin XW, Yuen J, Li ST, Chen Y, Allen JC Jr, Tan V, Lim GH, Ngeow J.
    • Fam Cancer. 2018 Oct;17(4):621-626. doi: 10.1007/s10689-018-0071-9.
    • Real-world health services utilisation and outcomes after BRCA1 and BRCA2 testing in Ontario, Canada: the What Comes Next Cohort Study protocol.
    • Dossa F, Cusimano MC, Sutradhar R, Metcalfe K, Little T, Lerner-Ellis J, Eisen A, Meschino WS, Baxter NN.
    • BMJ Open. 2018 Sep 4;8(9):e025317. doi: 10.1136/bmjopen-2018-025317.
    • 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
    • Evaluation of Breast Cancer Patients with Genetic Risk in a University Hospital: Before and After the Implementation of a Heredofamilial Cancer Unit.
    • Lobo M, López-Tarruella S, Luque S, Lizarraga S, Flores-Sánchez C, Bueno O, Solera J, Jerez Y, Del Val RG, Palomero MI, Cebollero M, Echavarría I, Torres G, Martín M, Márquez-Rodas I.
    • J Genet Couns. 2018 Aug;27(4):854-862. doi: 10.1007/s10897-017-0187-3. Epub 2017 Dec 15.
    • Uptake of risk-reducing surgery in BRCA gene carriers in Wales, UK.
    • Long J, Evans TG, Bailey D, Lewis MH, Gower-Thomas K, Murray A.
    • Breast J. 2018 Jul;24(4):580-585. doi: 10.1111/tbj.12978. Epub 2017 Dec 29.
    • Cancer risk management in Tasmanian women with BRCA1 and BRCA2 mutations.
    • Kearton S, Wills K, Bunting M, Blomfield P, James PA, Burke J.
    • Fam Cancer. 2018 Jul;17(3):333-344. doi: 10.1007/s10689-017-0047-1.
    • 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.
    • Characteristics of African American women at high-risk for ovarian cancer in the southeast: Results from a Gynecologic Cancer Risk Assessment Clinic.
    • Barrington DA, Champion ML, Boitano TKL, Walters-Haygood CL, Farmer MB, Alvarez RD, Estes JM, Leath CA 3rd.
    • Gynecol Oncol. 2018 May;149(2):337-340. doi: 10.1016/j.ygyno.2018.02.014. Epub 2018 Mar 2.
    • Genetic and clinical characteristics in Japanese hereditary breast and ovarian cancer: first report after establishment of HBOC registration system in Japan.
    • Arai M, Yokoyama S, Watanabe C, Yoshida R, Kita M, Okawa M, Sakurai A, Sekine M, Yotsumoto J, Nomura H, Akama Y, Inuzuka M, Nomizu T, Enomoto T, Nakamura S.
    • J Hum Genet. 2018 Apr;63(4):447-457. doi: 10.1038/s10038-017-0355-1. Epub 2017 Nov 8.
    • Short report: Follow-up of Bahamian women with a BRCA1 or BRCA2 mutation.
    • Narod SA, Butler R, Bobrowski D, Akbari MR, Curling D, Lunn J, Ho C, Panahi S, Llacuachaqui M, Donenberg T, Hurley J.
    • Mol Genet Genomic Med. 2018 Mar;6(2):301-304. doi: 10.1002/mgg3.363. Epub 2017 Dec 20.
    • 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.
    • Multi-institutional Evaluation of Women at High Risk of Developing Breast Cancer.
    • Hermel DJ, Wood ME, Chun J, Rounds T, Sands M, Schwartz S, Schnabel FR.
    • Clin Breast Cancer. 2017 Oct;17(6):427-432. doi: 10.1016/j.clbc.2017.04.005. Epub 2017 Apr 14.
    • Preferences for breast cancer risk reduction among BRCA1/BRCA2 mutation carriers: a discrete-choice experiment.
    • Liede A, Mansfield CA, Metcalfe KA, Price MA; Kathleen Cuningham Foundation Consortium for Research into Familial Breast Cancer, Snyder C, Lynch HT, Friedman S, Amelio J, Posner J, Narod SA, Lindeman GJ, Evans DG.
    • Breast Cancer Res Treat. 2017 Sep;165(2):433-444. doi: 10.1007/s10549-017-4332-3. Epub 2017 Jun 17.
    • Randomized Noninferiority Trial of Telephone vs In-Person Genetic Counseling for Hereditary Breast and Ovarian Cancer: A 12-Month Follow-Up.
    • Interrante MK, Segal H, Peshkin BN, Valdimarsdottir HB, Nusbaum R, Similuk M, DeMarco T, Hooker G, Graves K, Isaacs C, Wood M, McKinnon W, Garber J, McCormick S, Heinzmann J, Kinney AY, Schwartz MD.
    • JNCI Cancer Spectr. 2017 Sep;1(1):pkx002. doi: 10.1093/jncics/pkx002. Epub 2017 Sep 22.
    • Practice Patterns of Hereditary Ovarian Cancer Management in Korea.
    • Choi MC, Lim MC, Lee M, Kim MK, Suh DH, Song YJ, Kim TJ, Chang SJ, Kim JW.
    • Int J Gynecol Cancer. 2017 Jun;27(5):895-899. doi: 10.1097/IGC.0000000000000964.
    • Influence of the Angelina Jolie Announcement and Insurance Reimbursement on Practice Patterns for Hereditary Breast Cancer.
    • Lee J, Kim S, Kang E, Park S, Kim Z, Lee MH; Korean Breast Cancer Society.
    • J Breast Cancer. 2017 Jun;20(2):203-207. doi: 10.4048/jbc.2017.20.2.203. Epub 2017 Jun 26.
    • Breast Cancer Risk Reduction Decisions of the BRCA-Positive Patient: An Observational Study at a Single Institution.
    • Johns D, Agarwal J, Anderson L, Ying J, Kohlmann W.
    • J Womens Health (Larchmt). 2017 Jun;26(6):702-706. doi: 10.1089/jwh.2016.5931. Epub 2016 Dec 6.
    • Usefulness of Canadian Public Health Insurance Administrative Databases to Assess Breast and Ovarian Cancer Screening Imaging Technologies for BRCA1/2 Mutation Carriers.
    • Larouche G, Chiquette J, Plante M, Pelletier S, Simard J, Dorval M.
    • Can Assoc Radiol J. 2016 Nov;67(4):308-312. doi: 10.1016/j.carj.2015.12.003. Epub 2016 Jun 16.
    • Germline BRCA testing is moving from cancer risk assessment to a predictive biomarker for targeting cancer therapeutics.
    • Moreno L, Linossi C, Esteban I, Gadea N, Carrasco E, Bonache S, Gutiérrez-Enríquez S, Cruz C, Díez O, Balmaña J.
    • Clin Transl Oncol. 2016 Oct;18(10):981-7. doi: 10.1007/s12094-015-1470-0. Epub 2016 Jan 7.
    • A Dedicated Follow-Up Clinic for BRCA Mutation Carriers.
    • Yerushalmi R, Rizel S, Zoref D, Sharon E, Eitan R, Sabah G, Grubstein A, Rafson Y, Cohen M, Magen A, Birenboim I, Margel D, Ozlavo R, Sulkes A, Brenner B, Perry S.
    • Isr Med Assoc J. 2016 Sep;18(9):549-552.

    Related:

    Editorial:

    Handling Individuals with High Cancer Risk: One Size Doesn't Fit All.

    • Prediction of Cancer Prevention: From Mammogram Screening to Identification of BRCA1/2 Mutation Carriers in Underserved Populations.
    • Robinson LS, Hendrix A, Xie XJ, Yan J, Pirzadeh-Miller S, Pritzlaff M, Read P, Pass S, Euhus D, Ross TS.
    • EBioMedicine. 2015 Oct 21;2(11):1827-33. doi: 10.1016/j.ebiom.2015.10.022. eCollection 2015.

    Related:

    Commentary

    Differences in Uptake of Risk Reduction Strategies Among Underserved Populations.

    • 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.
    • Attitudes and compliance of clinical management after genetic testing for hereditary breast and ovarian cancer among high-risk Southern Chinese females with breast cancer history.
    • Kwong A, Chu AT, Wu CT, Tse DM.
    • Fam Cancer. 2014 Sep;13(3):423-30. doi: 10.1007/s10689-014-9706-7.
    • Rates of risk-reducing surgery in Israeli BRCA1 and BRCA2 mutation carriers.
    • Laitman Y, Vaisman Y, Feldman D, Helpman L, Gitly M, Paluch Shimon S, Berger R, Cohen L, Narod S, Friedman E.
    • Clin Genet. 2014 Jan;85(1):68-71. doi: 10.1111/cge.12149. Epub 2013 Apr 9.
    • Clinical implications of genetic testing for BRCA1 and BRCA2 mutations in Austria.
    • Singer C, Muhr D, Rappaport C, Tea MK, Gschwantler-Kaulich D, Fink-Retter A, Pfeiler G, Berger A, Sun P, Narod S.
    • Clin Genet. 2014 Jan;85(1):72-5. doi: 10.1111/cge.12216. Epub 2013 Jul 16.
    • Long-term follow-up of Jewish women with a BRCA1 and BRCA2 mutation who underwent population genetic screening.
    • Metcalfe KA, Mian N, Enmore M, Poll A, Llacuachaqui M, Nanda S, Sun P, Hughes KS, Narod SA.
    • Breast Cancer Res Treat. 2012 Jun;133(2):735-40. doi: 10.1007/s10549-011-1941-0. Epub 2012 Jan 13.