Preimplantation Genetic Diagnosis (PGD) in HBOC
~ Genetics of Breast & Ovarian Cancer

List was last updated on Nov 25, 2019 @ 10:38 am.


    • Counseling young women with early breast cancer on fertility preservation.
    • Ter Welle-Butalid MEE, Vriens IJHI, Derhaag JGJ, Leter EME, de Die-Smulders CEC, Smidt MM, van Golde RJTR, Tjan-Heijnen VCGV.
    • J Assist Reprod Genet. 2019 Nov 23. doi: 10.1007/s10815-019-01615-6. [Epub ahead of print]
    • Reproductive and hormonal considerations in women at increased risk for hereditary gynecologic cancers: Society of Gynecologic Oncology and American Society for Reproductive Medicine Evidence-Based Review.
    • Chen LM, Blank SV, Burton E, Glass K, Penick E, Woodard T.
    • Fertil Steril. 2019 Oct 3. pii: S0015-0282(19)31982-X. doi: 10.1016/j.fertnstert.2019.07.1349. [Epub ahead of print]
    • Review
    • Reproductive and Hormonal Considerations in Women at Increased Risk for Hereditary Gynecologic Cancers: Society of Gynecologic Oncology and American Society for Reproductive Medicine Evidence-Based Review.
    • Chen LM, Blank SV, Burton E, Glass K, Penick E, Woodard T.
    • Gynecol Oncol. 2019 Aug 22. pii: S0090-8258(19)31333-2. doi: 10.1016/j.ygyno.2019.06.017. [Epub ahead of print]
    • Review
    • Management of ovarian cancer risk in women with BRCA1/2 pathogenic variants.
    • Walker M, Jacobson M, Sobel M.
    • CMAJ. 2019 Aug 12;191(32):E886-E893. doi: 10.1503/cmaj.190281.
    • Transfer of embryos with positive results following preimplantation genetic testing for monogenic disorders (PGT-M): experience of two high-volume fertility clinics.
    • Besser AG, Blakemore JK, Grifo JA, Mounts EL.
    • J Assist Reprod Genet. 2019 Jul 29. doi: 10.1007/s10815-019-01538-2. [Epub ahead of print]
    • Online decision support for persons having a genetic predisposition to cancer and their partners during reproductive decision-making.
    • Reumkens K, Tummers MHE, Gietel-Habets JJG, van Kuijk SMJ, Aalfs CM, van Asperen CJ, Ausems MGEM, Collée M, Dommering CJ, Kets CM, van der Kolk LE, Oosterwijk JC, Tjan-Heijnen VCG, van der Weijden T1, de Die-Smulders CEM, van Osch LADM.
    • J Genet Couns. 2019 Jun;28(3):533-542. doi: 10.1002/jgc4.1056. Epub 2018 Dec 21.
    • Exploring the preferences of involved health professionals regarding the implementation of an online decision aid to support couples during reproductive decision-making in hereditary cancer: a mixed methods approach.
    • Reumkens K, de Die-Smulders CEM, van Osch LADM.
    • Fam Cancer. 2019 Apr;18(2):285-291. doi: 10.1007/s10689-019-00119-7.
    • Knowledge, attitudes and practice of physicians towards fertility and pregnancy-related issues in youngBRCA-mutated breast cancer patients.
    • Lambertini M, Di Maio M, Poggio F, Pagani O, Curigliano G, Mastro LD, Paluch-Shimon S, Loibl S, Partridge AH, Azim HA Jr, Peccatori FA, Demeestere I.
    • Reprod Biomed Online. 2019 Jan 10. pii: S1472-6483(19)30011-2. doi: 10.1016/j.rbmo.2018.11.031. [Epub ahead of print]
    • The development of an online decision aid to support persons having a genetic predisposition to cancer and their partners during reproductive decision-making: a usability and pilot study.
    • Reumkens K, Tummers MHE, Gietel-Habets JJG, van Kuijk SMJ, Aalfs CM, van Asperen CJ, Ausems MGEM, Collée M, Dommering CJ, Kets CM, van der Kolk LE, Oosterwijk JC, Tjan-Heijnen VCG, van der Weijden T, de Die-Smulders CEM, van Osch LADM.
    • Fam Cancer. 2019 Jan;18(1):137-146. doi: 10.1007/s10689-018-0092-4.
    • Uptake of Preimplantation Genetic Diagnosis in Female BRCA1 and BRCA2 Mutation Carriers.
    • Mor P, Brennenstuhl S, Metcalfe KA.
    • J Genet Couns. 2018 Dec;27(6):1386-1394. doi: 10.1007/s10897-018-0264-2. Epub 2018 Jun 1.
    • No. 366-Gynaecologic Management of Hereditary Breast and Ovarian Cancer.
    • Jacobson M, Bernardini M, Sobel ML, Kim RH, McCuaig J, Allen L.
    • J Obstet Gynaecol Can. 2018 Nov;40(11):1497-1510. doi: 10.1016/j.jogc.2018.05.046.
    • Guidelines

    [Article in French]:

    No 366 - Prise en charge gynécologique du cancer du sein et de l'ovaire héréditaire.

    • Pregnancy and Ovarian Stimulation in the Patients with Breast Cancer.
    • Lukáš D, David P, Jaromír M.
    • Klin Onkol. 2018 Fall;31(5):325-329. doi: 10.14735/amko2018325.
    • Ovarian stimulation for IVF and risk of primary breast cancer in BRCA1/2 mutation carriers.
    • Derks-Smeets IAP, Schrijver LH, de Die-Smulders CEM, Tjan-Heijnen VCG, van Golde RJT, Smits LJ, Caanen B, van Asperen CJ, Ausems M, Collée M, van Engelen K, Kets CM, van der Kolk L, Oosterwijk JC, van Os TAM; HEBON, Rookus MA, van Leeuwen FE, Gómez García EB.
    • Br J Cancer. 2018 May 1 [2018 Aug];119(3):357-363. doi: 10.1038/s41416-018-0139-1.
    • Reproductive Decision Support: Preferences and Needs of Couples at Risk for Hereditary Cancer and Clinical Geneticists.
    • Reumkens K, van Oudheusden AJG, Gietel-Habets JJG, Tummers MHE, de Die-Smulders CEM, van Osch LADM.
    • J Genet Couns. 2018 Aug;27(4):920-926. doi: 10.1007/s10897-017-0204-6. Epub 2018 Jan 25.
    • Support needs of couples with hereditary breast and ovarian cancer during reproductive decision-making.
    • Gietel-Habets JJG, de Die-Smulders CEM, Derks-Smeets IAP, Tibben A, Tjan-Heijnen VCG, van Golde R, Gomez-Garcia E, van Osch LADM.
    • Psychooncology. 2018 Jul;27(7):1795-1801. doi: 10.1002/pon.4729. Epub 2018 May 4.
    • The development of an online decision aid to support persons having a genetic predisposition to cancer and their partners during reproductive decision-making: a usability and pilot study.
    • Reumkens K, Tummers MHE, Gietel-Habets JJG, van Kuijk SMJ, Aalfs CM, van Asperen CJ, Ausems MGEM, Collée M, Dommering CJ, Kets CM, van der Kolk LE, Oosterwijk JC, Tjan-Heijnen VCG, Weijden T, de Die-Smulders CEM, van Osch LADM.
    • Fam Cancer. 2018 May 30. doi: 10.1007/s10689-018-0092-4. [Epub ahead of print]
    • Fertility preservation in women harboring deleterious BRCA mutations: ready for prime time?
    • Peccatori FA, Mangili G, Bergamini A, Filippi F, Martinelli F, Ferrari F, Noli S, Rabaiotti E, Candiani M, Somigliana E.
    • Hum Reprod. 2018 Feb 1;33(2):181-187. doi: 10.1093/humrep/dex356.
    • Fertility preservation in BRCA-mutated women: when and how?
    • Grynberg M, Raad J, Comtet M, Vinolas C, Cédrin-Durnerin I, Sonigo C.
    • Future Oncol. 2018 Feb;14(5):483-490. doi: 10.2217/fon-2017-0415. Epub 2018 Jan 12.
    • Review
    • Professionals' knowledge, attitude and referral behaviour of preimplantation genetic diagnosis for hereditary breast and ovarian cancer.
    • Gietel-Habets JJG, de Die-Smulders CEM, Tjan-Heijnen VCG, Derks-Smeets IAP, van Golde R, Gomez-Garcia E, van Osch LADM.
    • Reprod Biomed Online. 2018 Feb;36(2):137-144. doi: 10.1016/j.rbmo.2017.11.005. Epub 2017 Dec 6.
    • BRCA mutations and reproduction.
    • Daum H, Peretz T, Laufer N.
    • Fertil Steril. 2018 Jan;109(1):33-38. doi: 10.1016/j.fertnstert.2017.12.004.
    • Review
    • Genetics of Breast and Gynecologic Cancers (PDQ®): Health Professional Version. Clinical Management of Carriers of BRCA Pathogenic Variants. Reproductive Considerations in Carriers of BRCA Pathogenic Variants.
    • PDQ Cancer Genetics Editorial Board.
    • PDQ Cancer Information Summaries [Internet]. Bethesda, MD: National Cancer Institute. Updated 2017 Nov 30. Accessed 2017 Dec 8.
    • Genetics of Breast and Gynecologic Cancers (PDQ®): Health Professional Version. Psychosocial Issues in Inherited Breast and Ovarian Cancer Syndromes. Family Effects. Prenatal diagnosis and preimplantation genetic diagnosis.
    • PDQ Cancer Genetics Editorial Board.
    • PDQ Cancer Information Summaries [Internet]. Bethesda, MD: National Cancer Institute. Updated 2017 Nov 30. Accessed 2017 Dec 8.
    • BRCA1 mutation carriers have a lower number of mature oocytes after ovarian stimulation for IVF/PGD.
    • Derks-Smeets IAP, van Tilborg TC, van Montfoort A, Smits L, Torrance HL, Meijer-Hoogeveen M, Broekmans F, Dreesen JCFM, Paulussen ADC, Tjan-Heijnen VCG, Homminga I, van den Berg MMJ, Ausems MGEM, de Rycke M, de Die-Smulders CEM, Verpoest W, van Golde R.
    • J Assist Reprod Genet. 2017 Nov;34(11):1475-1482. doi: 10.1007/s10815-017-1014-3. Epub 2017 Aug 22.
    • Performing and Declining PGD: Accounts of Jewish Israeli Women Who Carry a BRCA1/2 Mutation or Partners of Male Mutation Carriers.
    • Dagan E, Birenbaum-Carmeli D, Friedman E, Feldman B.
    • J Genet Couns. 2017 Oct;26(5):1070-1079. doi: 10.1007/s10897-017-0087-6. Epub 2017 Mar 6.
    • Fertility and pregnancy issues in BRCA-mutated breast cancer patients.
    • Lambertini M, Goldrat O, Toss A, Azim HA Jr, Peccatori FA, Ignatiadis M, Del Mastro L, Demeestere I.
    • Cancer Treat Rev. 2017 Sep;59:61-70. doi: 10.1016/j.ctrv.2017.07.001. Epub 2017 Jul 14.
    • Review
    • Reproductive Decision-Making in Women with BRCA1/2 Mutations.
    • Chan JL, Johnson LN, Sammel MD, DiGiovanni L, Voong C, Domchek SM, Gracia CR.
    • J Genet Couns. 2017 Jun;26(3):594-603. doi: 10.1007/s10897-016-0035-x. Epub 2016 Oct 28.
    • Uptake of prenatal diagnostic testing for retinoblastoma compared to other hereditary cancer syndromes in the Netherlands.
    • Dommering CJ, Henneman L, van der Hout AH, Jonker MA, Tops CM, van den Ouweland AM, van der Luijt RB, Mensenkamp AR, Hogervorst FB, Redeker EJ, de Die-Smulders CE, Moll AC, Meijers-Heijboer H.
    • Fam Cancer. 2017 Apr;16(2):271-277. doi: 10.1007/s10689-016-9943-z.
    • Awareness and attitude regarding reproductive options of persons carrying a BRCA mutation and their partners.
    • Gietel-Habets JJ, de Die-Smulders CE, Derks-Smeets IA, Tibben A, Tjan-Heijnen VC, van Golde R, Gomez-Garcia E, Kets CM, van Osch LA.
    • Hum Reprod. 2017 Mar 1;32(3):588-597. doi: 10.1093/humrep/dew352.
    • Oncofertility for women with gynecologic malignancies.
    • Chan JL, Wang ET.
    • Gynecol Oncol. 2017 Mar;144(3):631-636. doi: 10.1016/j.ygyno.2016.12.013. Epub 2016 Dec 21.
    • Review
    • Preimplantation genetic diagnosis for hereditary cancer syndrome: local experience.
    • Lee VC, Chow JF, Lau EY, Kwong A, Leung SY, Yeung WS, Ho PC, Ng EH.
    • Hong Kong Med J. 2016 Jun;22(3):289-91. doi: 10.12809/hkmj144499.
    • Reproductive Endocrinologists' Utilization of Genetic Counselors for Oncofertility and Preimplantation Genetic Diagnosis (PGD) Treatment of BRCA1/2 Mutation Carriers.
    • Goetsch AL, Wicklund C, Clayman ML, Woodruff TK.
    • J Genet Couns. 2016 Jun;25(3):561-71. doi: 10.1007/s10897-015-9908-7. Epub 2015 Nov 14.
    • Women's Health Issues for BRCA Mutation Carriers.
    • Sabatini ME, Ellisen LW.
    • Am Soc Clin Oncol Educ Book. 2016 May;(36):14-17. doi: 10.1200/EDBK_100001.
    • Exploring Your Family Planning Options Through Assisted Reproduction as a Cancer Previvor or Survivor.
    • Matthew Lederman
    • FORCE. Be Empowered Webinars. 2016 Apr 25.
    • Transferring embryos with indeterminate PGD results: the ethical implications.
    • Insogna IG, Ginsburg E.
    • Fertil Res Pract. 2016 Feb 1;2:2. doi: 10.1186/s40738-016-0014-9. eCollection 2016.
    • Non-invasive Prenatal Diagnosis for BRCA Mutations - a Qualitative Pilot Study of Health Professionals' Views.
    • Bennett J, Chitty L, Lewis C.
    • J Genet Couns. 2016 Feb;25(1):198-207. doi: 10.1007/s10897-015-9858-0. Epub 2015 Jul 16.
    • Women's Health Issues for BRCA Mutation Carriers.
    • Sabatini ME, Ellisen LW.
    • Am Soc Clin Oncol Educ Book. 2016;35:14-17. doi: 10.14694/EDBK_100001.

    Comments from NSGC Discussion Forum Cancer SIG

    Subject: hormonal birth control with ATM mutations?

    • [Gynecological Care and Prevention of Gynecological Malignancies in BRCA1 and BRCA2 Mutation Carriers].
    • Zikán M.
    • Klin Onkol. 2015 Winter;29 Suppl 1:22-30.
    • Review, [Article in Czech]
    • [Assisted Reproduction and Preimplantation Genetic Diagnosis in Patients Susceptible to Breast Cancer].
    • Veselá K, Kocur T, Horák J, Horňák M, Oráčová E, Hromadová L, Veselý J, Trávník P.
    • Klin Onkol. 2015 Winter;29 Suppl 1:93-9.
    • Review, [Article in Czech]
    • BRCA mutation carriers show normal ovarian response in in vitro fertilization cycles.
    • Shapira M, Raanani H, Feldman B, Srebnik N, Dereck-Haim S, Manela D, Brenghausen M, Geva-Lerner L, Friedman E, Levi-Lahad E, Goldberg D, Perri T, Eldar-Geva T, Meirow D.
    • Fertil Steril. 2015 Nov;104(5):1162-7. doi: 10.1016/j.fertnstert.2015.07.1162. Epub 2015 Aug 31.
    • Breast cancer and fertility: an update.
    • Ronn R, Holzer H.
    • Curr Opin Support Palliat Care. 2015 Sep;9(3):285-93. doi: 10.1097/SPC.0000000000000164.
    • Review
    • [Breast and ovarian cancer due to BRCA1&2 hereditary cancer predisposition syndrome and reproduction: Literature review.]
    • Jégu M, Der AS, Morcel K, Abadie C, Fritel X, Levêque J.
    • J Gynecol Obstet Biol Reprod (Paris). 2015 Jan;44(1):10-17. doi: 10.1016/j.jgyn.2014.10.011. Epub 2014 Nov 18.
    • Review, [Article in French]
    • Preimplantation genetic diagnosis using combined strategies on a breast cancer patient with a novel genomic deletion in BRCA2.
    • Wang Q, Chow JF, Yeung WS, Lau EY, Lee VC, Ng EH, Ho PC.
    • J Assist Reprod Genet. 2014 Dec;31(12):1719-26. doi: 10.1007/s10815-014-0355-4. Epub 2014 Oct 11.
    • [Having a child and PND/PGD access in women with a BRCA1/2 mutation? Different approach whether ill or healthy].
    • Pellegrini I, Prodromou N, Coupier I, Huiart L, Moretta J, Noguès C, Julian-Reynier C.
    • Bull Cancer. 2014 Nov;101(11):1001-8. doi: 10.1684/bdc.2014.2036.
    • [Article in French]
    • 'The BRCA Clock is Ticking!': Negotiating medical concerns and reproductive goals in preimplantation genetic diagnosis.
    • Rubin LR, Werner-Lin A, Sagi M, Cholst I, Stern R, Lilienthal D, Hurley K.
    • Hum Fertil (Camb). 2014 Sep;17(3):159-64. doi: 10.3109/14647273.2014.940003. Epub 2014 Aug 8.
    • Review
    • Breast Cancer, BRCA Mutations, and Attitudes Regarding Pregnancy and Preimplantation Genetic Diagnosis.
    • Woodson AH, Muse KI, Lin H, Jackson M, Mattair DN, Schover L, Woodard T, McKenzie L, Theriault RL, Hortobágyi GN, Arun B, Peterson SK, Profato J, Litton JK.
    • Oncologist. 2014 Aug;19(8):797-804. doi: 10.1634/theoncologist.2014-0057. Epub 2014 Jun 20.
    • "I Do Not Want My Baby to Suffer as I Did"; Prenatal and Preimplantation Genetic Diagnosis for BRCA1/2 Mutations: A Case Report and Genetic Counseling Considerations.
    • Dagan E, Gershoni-Baruch R, Kurolap A, Goldberg Y, Fried G.
    • Genet Test Mol Biomarkers. 2014 Jul;18(7):461-6. doi: 10.1089/gtmb.2013.0513. Epub 2014 Jun 10.
    • Case report, Review
    • Hereditary breast and ovarian cancer and reproduction: an observational study on the suitability of preimplantation genetic diagnosis for both asymptomatic carriers and breast cancer survivors.
    • Derks-Smeets IA, de Die-Smulders CE, Mackens S, van Golde R, Paulussen AD, Dreesen J, Tournaye H, Verdyck P, Tjan-Heijnen VC, Meijer-Hoogeveen M, De Greve J, Geraedts J, De Rycke M, Bonduelle M, Verpoest WM.
    • Breast Cancer Res Treat. 2014 Jun;145(3):673-81. doi: 10.1007/s10549-014-2951-5. Epub 2014 Apr 19.
    • Comparison of attitudes regarding preimplantation genetic diagnosis among patients with hereditary cancer syndromes.
    • Rich TA, Liu M, Etzel CJ, Bannon SA, Mork ME, Ready K, Saraiya DS, Grubbs EG, Perrier ND, Lu KH, Arun BK, Woodard TL, Schover LR, Litton JK.
    • Fam Cancer. 2014 Jun;13(2):291-9. doi: 10.1007/s10689-013-9685-0.
    • Decision-making on preimplantation genetic diagnosis and prenatal diagnosis: a challenge for couples with hereditary breast and ovarian cancer.
    • Derks-Smeets IA, Gietel-Habets JJ, Tibben A, Tjan-Heijnen VC, Meijer-Hoogeveen M, Geraedts JP, van Golde R, Gomez-Garcia E, van den Bogaart E, van Hooijdonk M, de Die-Smulders CE, van Osch LA.
    • Hum Reprod. 2014 May;29(5):1103-12. doi: 10.1093/humrep/deu034. Epub 2014 Mar 6.
    • PGD for hereditary breast and ovarian cancer: the route to universal tests for BRCA1 and BRCA2 mutation carriers.
    • Drüsedau M, Dreesen JC, Derks-Smeets I, Coonen E, van Golde R, van Echten-Arends J, Kastrop PM, Blok MJ, Gómez-García E, Geraedts JP, Smeets HJ, de Die-Smulders CE, Paulussen AD.
    • Eur J Hum Genet. 2013 Dec;21(12):1361-8. doi: 10.1038/ejhg.2013.50. Epub 2013 Mar 27.
    • Comparison of whole genome amplification and nested-PCR methods for preimplantation genetic diagnosis for BRCA1 gene mutation on unfertilized oocytes-a pilot study.
    • Michalska D, Jaguszewska K, Liss J, Kitowska K, Mirecka A, Lukaszuk K.
    • Hered Cancer Clin Pract. 2013 Aug 13;11(1):10. doi: 10.1186/1897-4287-11-10. eCollection 2013.
    • Much more than a gene: hereditary breast and ovarian cancer, reproductive choices and family life.
    • Dekeuwer C, Bateman S.
    • Med Health Care Philos. 2013 May;16(2):231-44. doi: 10.1007/s11019-011-9361-9.
    • Incorporating information regarding preimplantation genetic diagnosis into discussions concerning testing and risk management for BRCA1/2 mutations: A qualitative study of patient preferences.
    • Hurley K, Rubin LR, Werner-Lin A, Sagi M, Kemel Y, Stern R, Phillips A, Cholst I, Kauff N, Offit K.
    • Cancer. 2012 Dec 15;118(24):6270-7. doi: 10.1002/cncr.27695. Epub 2012 Jun 26.
    • Fertility Preservation and Pregnancy in Women With and Without BRCA Mutation-Positive Breast Cancer.
    • Rodriguez-Wallberg KA, Oktay K.
    • Oncologist. [2012 Nov;]17(11):1409-17. doi: 10.1634/theoncologist.2012-0236. Epub 2012 Sep 24.
    • Preimplantation genetic diagnosis for mutated BRCA genes.
    • Wilkinson E.
    • Lancet Oncol. 2012 Aug;13(8):e331.
    • Pregnancy and Fertility for Previvors and Survivors.
    • Jennifer Litton.
    • FORCE. Be Empowered Webinars. 2012 Jun 19.
    • Preimplantation genetic diagnosis for inherited breast cancer: first clinical application and live birth in Spain.
    • Ramón Y Cajal T, Polo A, Martínez O, Giménez C, Arjona C, Llort G, Bassas L, Viscasillas P, Calaf J.
    • Fam Cancer. 2012 Jun;11(2):175-9. doi: 10.1007/s10689-011-9497-z.
    • "My funky genetics": BRCA1/2 mutation carriers' understanding of genetic inheritance and reproductive merger in the context of new reprogenetic technologies.
    • Werner-Lin A, Rubin LR, Doyle M, Stern R, Savin K, Hurley K, Sagi M.
    • Fam Syst Health. 2012 Jun;30(2):166-80. doi: 10.1037/a0028434.
    • BRCA1/2 carriers: their childbearing plans and theoretical intentions about having preimplantation genetic diagnosis and prenatal diagnosis.
    • Julian-Reynier C, Fabre R, Coupier I, Stoppa-Lyonnet D, Lasset C, Caron O, Mouret-Fourme E, Berthet P, Faivre L, Frenay M, Gesta P, Gladieff L, Bouhnik AD, Protière C, Noguès C.
    • Genet Med. 2012 May;14(5):527-34. doi: 10.1038/gim.2011.27. Epub 2012 Jan 12.
    • Attitudes to reproductive genetic testing in women who had a positive BRCA test before having children: a qualitative analysis.
    • Ormondroyd E, Donnelly L, Moynihan C, Savona C, Bancroft E, Evans DG, Eeles R, Lavery S, Watson M.
    • Eur J Hum Genet. 2012 Jan;20(1):4-10. doi: 10.1038/ejhg.2011.146. Epub 2011 Aug 3.