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

List was last updated on Feb 13, 2021 @ 1:05 am.


    • 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
    • Genetic/Familial High-Risk Assessment: Breast, Ovarian, and Pancreatic, Version 2.2021, NCCN Clinical Practice Guidelines in Oncology.
    • Daly MB, Pal T, Berry MP, Buys SS, Dickson P, Domchek SM, Elkhanany A, Friedman S, Goggins M, Hutton ML; CGC, Karlan BY, Khan S, Klein C, Kohlmann W; CGC, Kurian AW, Laronga C, Litton JK, Mak JS; LCGC, Menendez CS, Merajver SD, Norquist BS, Offit K, Pederson HJ, Reiser G; CGC, Senter-Jamieson L; CGC, Shannon KM, Shatsky R, Visvanathan K, Weitzel JN, Wick MJ, Wisinski KB, Yurgelun MB, Darlow SD, Dwyer MA.
    • J Natl Compr Canc Netw. 2021 Jan 6;19(1):77-102. doi: 10.6004/jnccn.2021.0001.
    • Preimplantation genetic testing for carriers of BRCA1/2 pathogenic variants.
    • Vukovic P, Peccatori FA, Massarotti C, Miralles MS, Beketic-Oreškovic L, Lambertini M.
    • Crit Rev Oncol Hematol. 2020 Dec 14:103201. doi: 10.1016/j.critrevonc.2020.103201. Epub ahead of print.
    • Review
    • Impact of ARTs on oncological outcomes in young breast cancer survivors.
    • Condorelli M, De Vos M, Lie Fong S, Autin C, Delvigne A, Vanden Meerschaut F, Wyns C, Imbert R, Cheruy C, Bouziotis J, de Azambuja E, Delbaere A, Lambertini M, Demeestere I.
    • Hum Reprod. 2020 Dec 8:deaa319. doi: 10.1093/humrep/deaa319. Epub ahead of print.
    • Fertility in BRCA mutation carriers: counseling BRCA-mutated patients on reproductive issues.
    • Knabben L, Siegenthaler F, Imboden S, Mueller MD.
    • Horm Mol Biol Clin Investig. 2020 Oct 6. doi: 10.1515/hmbci-2020-0005. Epub ahead of print.
    • Review
    • Integrative Review of Reproductive Decision Making of Women Who Are BRCA Positive.
    • Skrovanek E, Dunbar-Jacob J, Dunwoody C, Wesmiller S.
    • J Obstet Gynecol Neonatal Nurs. 2020 Sep 11:S0884-2175(20)30117-9. doi: 10.1016/j.jogn.2020.07.006. Epub ahead of print.
    • Review
    • Managing a woman with BRCA mutations? Shared decision-making is key.
    • Schrager S, Torell E, Ledford K, Elezaby M, Barroleit L, Sadowski E.
    • J Fam Pract. 2020 Jun;69(5):237-243.
    • Fertility preservation in patients with BRCA mutation.
    • Ghunaim S, Ghazeeri G, Khalife D, Azim HA Jr.
    • Ecancermedicalscience. 2020 May 6;14:1033. doi: 10.3332/ecancer.2020.1033.
    • Preserving fertility in young women undergoing chemotherapy for early breast cancer; the Maastricht experience.
    • Vriens IJH, Ter Welle-Butalid EM, de Boer M, de Die-Smulders CEM, Derhaag JG, Geurts SME, van Hellemond IEG, Luiten EJT, Dercksen MW, Lemaire BMD, van Haaren ERM, Vriens BEPJ, van de Wouw AJ, van Riel AMGH, Janssen-Engelen SLE, van de Poel MHW, Schepers-van der Sterren EEM, van Golde RJT, Tjan-Heijnen VCG.
    • Breast Cancer Res Treat. 2020 Mar 31. doi: 10.1007/s10549-020-05598-2. [Epub ahead of print]

    Letter:

    Fertility and reproduction in breast cancer patients.

    • Cost effectiveness of in vitro fertilisation and preimplantation genetic testing to prevent transmission of BRCA1/2 mutations.
    • Lipton JH, Zargar M, Warner E, Greenblatt EE, Lee E, Chan KKW, Wong WWL.
    • Hum Reprod. 2020 Feb 29;35(2):434-445. doi: 10.1093/humrep/dez203.
    • Fertility preservation in BRCA mutation carriers-efficacy and safety issues: a review.
    • Zhang X, Niu J, Che T, Zhu Y, Zhang H, Qu J.
    • Reprod Biol Endocrinol. 2020 Feb 18;18(1):11. doi: 10.1186/s12958-019-0561-0.
    • Fertility preservation and preimplantation genetic assessment for women with breast cancer.
    • Sciorio R, Anderson RA.
    • Cryobiology. 2019 Dec 18. pii: S0011-2240(19)30535-8. doi: 10.1016/j.cryobiol.2019.12.001. [Epub ahead of print]
    • Review
    • 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.