Ovarian Reserve
~ Genetics of Breast & Ovarian Cancer

References on possible reduced ovarian reserve phenotype of BRCA1/2 mutation carriers

List was last updated on Dec 1, 2019 @ 7:35 am.


    • Assessment of ovarian reserve and reproductive outcomes in BRCA1 or BRCA2 mutation carriers.
    • Ponce J, Fernandez-Gonzalez S, Calvo I, Climent M, Peñafiel J, Feliubadaló L, Teulé A, Lázaro C, Brunet JM, Candás-Estébanez B, Durán Retamal M.
    • Int J Gynecol Cancer. 2019 Nov 27. pii: ijgc-2019-000626. doi: 10.1136/ijgc-2019-000626. [Epub ahead of print]
    • Do BRCA1 and BRCA2 gene mutation carriers have a reduced ovarian reserve? Protocol for a prospective observational study.
    • Winship AL, Willson C, Hansen KR, Hutt KJ, Hickey M.
    • BMJ Open. 2019 Nov 25;9(11):e033810. doi: 10.1136/bmjopen-2019-033810.
    • Impact of Taxanes, Endocrine Therapy, and Deleterious Germline BRCA Mutations on Anti-müllerian Hormone Levels in Early Breast Cancer Patients Treated With Anthracycline- and Cyclophosphamide-Based Chemotherapy.
    • Lambertini M, Olympios N, Lequesne J, Calbrix C, Fontanilles M, Loeb A, Leheurteur M, Demeestere I, Di Fiore F, Perdrix A, Clatot F.
    • Front Oncol. 2019 Jul 12;9:575. doi: 10.3389/fonc.2019.00575. eCollection 2019.
    • BRCA2 deficiency is a potential driver for human primary ovarian insufficiency.
    • Miao Y, Wang P, Xie B, Yang M, Li S, Cui Z, Fan Y, Li M, Xiong B.
    • Cell Death Dis. 2019 Jun 17;10(7):474. doi: 10.1038/s41419-019-1720-0.
    • Association of BRCA Mutations and Anti-müllerian Hormone Level in Young Breast Cancer Patients.
    • Son KA, Lee DY, Choi D.
    • Front Endocrinol (Lausanne). 2019 Apr 11;10:235. doi: 10.3389/fendo.2019.00235. eCollection 2019.
    • BRCA2 in Ovarian Development and Function.
    • Qin Y, Zhang F, Chen ZJ.
    • N Engl J Med. 2019 Mar 14;380(11):1086. doi: 10.1056/NEJMc1813800.
    • Letter, Case report, Comment

    Original research:

    Essential Role of BRCA2 in Ovarian Development and Function.

    Letter, Comment:

    BRCA2 in Ovarian Development and Function.

    Letter, Reply:

    BRCA2 in Ovarian Development and Function. Reply.

    • BRCA1/2 gene mutations do not affect the capacity of oocytes from breast cancer candidates for fertility preservation to mature in vitro.
    • Grynberg M, Dagher Hayeck B, Papanikolaou EG, Sifer C, Sermondade N, Sonigo C.
    • Hum Reprod. 2019 Feb 1;34(2):374-379. doi: 10.1093/humrep/dey358.
    • BRCA carriers have similar reproductive potential at baseline to noncarriers: comparisons in cancer and cancer-free cohorts undergoing fertility preservation.
    • Gunnala V, Fields J, Irani M, D'Angelo D, Xu K, Schattman G, Rosenwaks Z.
    • Fertil Steril. 2019 Feb;111(2):363-371. doi: 10.1016/j.fertnstert.2018.10.014. Epub 2018 Dec 6.
    • Association Between Impairment of DNA Double Strand Break Repair and Decreased Ovarian Reserve in Patients With Endometriosis.
    • Choi YS, Park JH, Lee JH, Yoon JK, Yun BH, Park JH, Seo SK, Sung HJ, Kim HS, Cho S, Lee BS.
    • Front Endocrinol (Lausanne). 2018 Dec 21;9:772. doi: 10.3389/fendo.2018.00772. eCollection 2018.
    • Essential Role of BRCA2 in Ovarian Development and Function.
    • Weinberg-Shukron A, Rachmiel M, Renbaum P, Gulsuner S, Walsh T, Lobel O, Dreifuss A, Ben-Moshe A, Zeligson S, Segel R, Shore T, Kalifa R, Goldberg M, King MC, Gerlitz O, Levy-Lahad E, Zangen D.
    • N Engl J Med. 2018 Sep 13;379(11):1042-1049. doi: 10.1056/NEJMoa1800024.
    • Case report

    Letter, Comment, Case report:

    BRCA2 in Ovarian Development and Function.

    Letter, Comment:

    BRCA2 in Ovarian Development and Function.

    Letter, Reply:

    BRCA2 in Ovarian Development and Function. Reply.

    • Premature ovarian aging in BRCA carriers: a prototype of systemic precocious aging?
    • Ben-Aharon I, Levi M, Margel D, Yerushalmi R, Rizel S, Perry S, Sharon E, Hasky N, Abir R, Fisch B, Tobar A, Shalgi R, Stemmer SM.
    • Oncotarget. 2018 Mar 23;9(22):15931-15941. doi: 10.18632/oncotarget.24638. eCollection 2018 Mar 23.
    • 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
    • Reproductive potential and performance of fertility preservation strategies in BRCA-mutated breast cancer patients.
    • Lambertini M, Goldrat O, Ferreira AR, Dechene J, Azim HA Jr, Desir J, Delbaere A, t'Kint de Roodenbeke MD, de Azambuja E, Ignatiadis M, Demeestere I.
    • Ann Oncol. 2018 Jan 1;29(1):237-243. doi: 10.1093/annonc/mdx639.

    Introductory article:

    BRCA 1 and 2 mutation status: the elephant in the room during oncofertility counseling for young breast cancer patients.

    Introductory article: BRCA 1 and 2 Mutation Status: The Elephant in the Room During Oncofertility Counseling for Young Breast Cancer Patients. (Medscape, Free full text)

    • 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
    • Ovarian Stimulation in Patients With Cancer: Impact of Letrozole and BRCA Mutations on Fertility Preservation Cycle Outcomes.
    • Turan V, Bedoschi G, Emirdar V, Moy F, Oktay K.
    • Reprod Sci. 2018 Jan;25(1):26-32. doi: 10.1177/1933719117728800. Epub 2017 Sep 6.
    • A homozygous FANCM mutation underlies a familial case of non-syndromic primary ovarian insufficiency.
    • Fouquet B, Pawlikowska P, Caburet S, Guigon C, Mäkinen M, Tanner L, Hietala M, Urbanska K, Bellutti L, Legois B, Bessieres B, Gougeon A, Benachi A, Livera G, Rosselli F, Veitia RA, Misrahi M.
    • Elife. 2017 Dec 12;6. pii: e30490. doi: 10.7554/eLife.30490.
    • 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.
    • Ovarian Aging in Women with BRCA Germline Mutations.
    • Lin W, Titus S, Moy F, Ginsburg ES, Oktay K.
    • J Clin Endocrinol Metab. 2017 Oct 1;102(10):3839-3847. doi: 10.1210/jc.2017-00765.
    • Association of BRCA1 Mutations with Impaired Ovarian Reserve: Connection Between Infertility and Breast/Ovarian Cancer Risk.
    • Giordano S, Garrett-Mayer E, Mittal N, Smith K, Shulman L, Passaglia C, Gradishar W, Pavone ME.
    • J Adolesc Young Adult Oncol. 2016 Dec;5(4):337-343. Epub 2016 Aug 11.
    • Potential implications on female fertility and reproductive lifespan in BRCA germline mutation women.
    • de la Noval BD.
    • Arch Gynecol Obstet. 2016 Nov;294(5):1099-1103. Epub 2016 Aug 25.
    • Letter
    • Serum AMH levels in healthy women from BRCA1/2 mutated families: are they reduced?
    • van Tilborg TC, Derks-Smeets IA, Bos AM, Oosterwijk JC, van Golde RJ, de Die-Smulders CE, van der Kolk LE, van Zelst-Stams WA, Velthuizen ME, Hoek A, Eijkemans MJ, Laven JS, Ausems MG, Broekmans FJ.
    • Hum Reprod. 2016 Nov;31(11):2651-2659. Epub 2016 Oct 5.
    • BRCA1 and BRCA2 sequence variations detected with next-generation sequencing in patients with premature ovarian insufficiency.
    • Yılmaz NK, Karagin PH, Terzi YK, Kahyaoğlu İ, Yılmaz S, Erkaya S, Şahin Fİ.
    • J Turk Ger Gynecol Assoc. 2016 Jan 12;17(2):77-82. doi: 10.5152/jtgga.2016.16035. eCollection [2016 Jun;].
    • Anti-Müllerian hormone serum concentrations of women with germline BRCA1 or BRCA2 mutations.
    • Phillips KA, Collins IM, Milne RL, McLachlan SA, Friedlander M, Hickey M, Stern C, Hopper JL, Fisher R, Kannemeyer G, Picken S, Smith CD, Kelsey TW, Anderson RA; Kathleen Cuningham Consortium for Research into Familial Breast Cancer (kConFab).
    • Hum Reprod. 2016 May;31(5):1126-32. doi: 10.1093/humrep/dew044.
    • [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]
    • [Should a systematic fertility preservation be proposed to healthy women carrying a BRCA1/2 mutation?].
    • Sénéchal C, Rousset-Jablonski C.
    • Gynecol Obstet Fertil. 2015 Dec;43(12):800-5. doi: 10.1016/j.gyobfe.2015.09.012. Epub 2015 Oct 18.
    • [Article in French]
    • 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.
    • BRCA Mutations, DNA Repair Deficiency, and Ovarian Aging.
    • Oktay K, Turan V, Titus S, Stobezki R, Liu L.
    • Biol Reprod. 2015 Sep;93(3):67. doi: 10.1095/biolreprod.115.132290. Epub 2015 Jul 29.
    • Infertility etiologies are genetically and clinically linked with other diseases in single meta-diseases.
    • Tarín JJ, García-Pérez MA, Hamatani T, Cano A.
    • Reprod Biol Endocrinol. 2015 Apr 15;13:31. doi: 10.1186/s12958-015-0029-9.

    Comment

    Re: Infertility Etiologies Are Genetically and Clinically Linked with Other Diseases in Single Meta-Diseases.

    • Fertility preservation and breast cancer: a review.
    • de Pedro M, Otero B, Martín B.
    • Ecancermedicalscience. 2015 Feb 3;9:503. doi: 10.3332/ecancer.2015.503. eCollection 2015.
    • A Pilot Study of BRCA Mutation Carriers' Knowledge About the Clinical Impact of Prophylactic-oophorectomy and Views on Fertility Consultation: A Single-Center Pilot Study.
    • Kim J, Skrzynia C, Mersereau JE.
    • J Genet Couns. 2015 Feb;24(1):149-57. doi: 10.1007/s10897-014-9747-y. Epub 2014 Aug 15.
    • [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]
    • BRCA1 germline mutations may be associated with reduced ovarian reserve.
    • Wang ET, Pisarska MD, Bresee C, Ida Chen YD, Lester J, Afshar Y, Alexander C, Karlan BY.
    • Fertil Steril. 2014 Dec;102(6):1723-8. doi: 10.1016/j.fertnstert.2014.08.014. Epub 2014 Sep 23.
    • FMR1 CGG allele length in Israeli BRCA1/BRCA2 mutation carriers and the general population display distinct distribution patterns.
    • Laitman Y, Ries-Levavi L, Berkensdadt M, Korach J, Perri T, Pras E, Friedman E.
    • Genet Res (Camb). 2014 Oct 8;96:e11. doi: 10.1017/S0016672314000147.
    • Age-Related Decline in DNA Repair Function Explains Diminished Ovarian Reserve, Earlier Menopause, and Possible Oocyte Vulnerability to Chemotherapy in Women With BRCA Mutations.
    • Oktay K, Moy F, Titus S, Stobezki R, Turan V, Dickler M, Goswami S.
    • J Clin Oncol. 2014 Apr 1;32(10):1093-4. doi: 10.1200/JCO.2013.53.5369. Epub 2014 Feb 18.

    Chemotherapy-Induced Amenorrhea in Patients With Breast Cancer With a BRCA1 or BRCA2 Mutation.

    • Do BRCA1/2 mutations and low FMR1 alleles interact or not?
    • Gleicher N, Weghofer A, Barad DH.
    • Eur J Hum Genet. 2014 Feb;22(2):155-6. doi: 10.1038/ejhg.2013.213. Epub 2013 Sep 25.

    The FMR1 CGG repeat test is not a candidate prescreening tool for identifying women with a high probability of being carriers of BRCA mutations.

    • BRCA Mutation Carriers Do Not Have Compromised Ovarian Reserve.
    • Michaelson-Cohen R, Mor P, Srebnik N, Beller U, Levy-Lahad E, Eldar-Geva T.
    • Int J Gynecol Cancer. 2014 Feb;24(2):233-7. doi: 10.1097/IGC.0000000000000058.
    • Fanconi anaemia, BRCA2 mutations and childhood cancer: a developmental perspective from clinical and epidemiological observations with implications for genetic counselling.
    • Meyer S, Tischkowitz M, Chandler K, Gillespie A, Birch JM, Evans DG.
    • J Med Genet. 2014 Feb;51(2):71-5. doi: 10.1136/jmedgenet-2013-101642. Epub 2013 Nov 20.
    • Chemotherapy-induced amenorrhea in patients with breast cancer with a BRCA1 or BRCA2 mutation.
    • Valentini A, Finch A, Lubinski J, Byrski T, Ghadirian P, Kim-Sing C, Lynch HT, Ainsworth PJ, Neuhausen SL, Greenblatt E, Singer C, Sun P, Narod SA.
    • J Clin Oncol. 2013 Nov 1;31(31):3914-9. doi: 10.1200/JCO.2012.47.7893. Epub 2013 Aug 26.

    Letter, Comment:

    Age-related decline in DNA repair function explains diminished ovarian reserve, earlier menopause, and possible oocyte vulnerability to chemotherapy in women with BRCA mutations.

    • Do BRCA1 and BRCA2 Mutation Carriers Have Earlier Natural Menopause Than Their Noncarrier Relatives? Results From the Kathleen Cuningham Foundation Consortium for Research Into Familial Breast Cancer.
    • Collins IM, Milne RL, McLachlan SA, Friedlander M, Hickey M, Weideman PC, Birch KE, Hopper JL, Phillips KA.
    • J Clin Oncol. 2013 Nov 1;31(31):3920-5. doi: 10.1200/JCO.2013.49.3007. Epub 2013 Sep 30.
    • FMR1 low sub-genotype does not rescue BRCA1/2-mutated human embryos and does not explain primary ovarian insufficiency among BRCA1/2-carriers.
    • Brandão RD, van Roozendaal K, Tserpelis D, Blok MJ.
    • Hum Reprod. 2013 Aug;28(8):2308-11. doi: 10.1093/humrep/det254. Epub 2013 Jun 11.
    • Association of BRCA1/2 mutations with FMR1 genotypes: Effects on menarcheal and menopausal age.
    • Tea MK, Weghofer A, Wagner K, Singer CF.
    • Maturitas. 2013 Jun;75(2):148-51. doi: 10.1016/j.maturitas.2013.03.002. Epub 2013 Mar 23.
    • Comparison of age at natural menopause in BRCA1/2 mutation carriers with a non-clinic-based sample of women in northern California.
    • Lin WT, Beattie M, Chen LM, Oktay K, Crawford SL, Gold EB, Cedars M, Rosen M.
    • Cancer. 2013 May 1;119(9):1652-9. doi: 10.1002/cncr.27952. Epub 2013 Jan 29.

    Press: Early Menopause May Occur in Women With BRCA Gene. (ScienceDaily)

    Press: Cancer gene mutation linked to earlier menopause. (Reuters/Living Beyond Breast Cancer)

    • Frequency of premature menopause in women who carry a BRCA1 or BRCA2 mutation.
    • Finch A, Valentini A, Greenblatt E, Lynch HT, Ghadirian P, Armel S, Neuhausen SL, Kim-Sing C, Tung N, Karlan B, Foulkes WD, Sun P, Narod S; Hereditary Breast Cancer Study Group.
    • Fertil Steril. 2013 May;99(6):1724-8. doi: 10.1016/j.fertnstert.2013.01.109. Epub 2013 Feb 13.

    Comment:

    BRCA mutations and fertility: do not push the envelope!

    • Impairment of BRCA1-Related DNA Double-Strand Break Repair Leads to Ovarian Aging in Mice and Humans.
    • Titus S, Li F, Stobezki R, Akula K, Unsal E, Jeong K, Dickler M, Robson M, Moy F, Goswami S, Oktay K.
    • Sci Transl Med. 2013 Feb 13;5(172):172ra21. doi: 10.1126/scitranslmed.3004925.

    Comment:

    Ovarian aging: breaking up is hard to fix.

    • BRCA1/2 mutations appear embryo-lethal unless rescued by low (CGG n<26) FMR1 sub-genotypes: explanation for the "BRCA paradox"?
    • Weghofer A, Tea MK, Barad DH, Kim A, Singer CF, Wagner K, Gleicher N.
    • PLoS One. 2012;7(9):e44753. doi: 10.1371/journal.pone.0044753. Epub 2012 Sep 12.