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Volumn 93, Issue 3, 2015, Pages

BRCA mutations, DNA repair deficiency, and ovarian aging

Author keywords

BRCA; BRCA1; BRCA2; Fertility; Infertility; Mechanisms of ovarian aging; Mutations; Oocyte; Oocyte DNA repair; Ovarian reserve

Indexed keywords

ATM PROTEIN; BRCA1 PROTEIN; BRCA2 PROTEIN;

EID: 84943328313     PISSN: 00063363     EISSN: 15297268     Source Type: Journal    
DOI: 10.1095/biolreprod.115.132290     Document Type: Review
Times cited : (131)

References (64)
  • 1
    • 11144357255 scopus 로고    scopus 로고
    • Cellular machineries for chromosomal DNA repair
    • Peterson, CL, Cote J. Cellular machineries for chromosomal DNA repair. Genes Dev 2004; 18:602-616.
    • (2004) Genes Dev , vol.18 , pp. 602-616
    • Peterson, C.L.1    Cote, J.2
  • 2
    • 84891014338 scopus 로고    scopus 로고
    • Double-strand break repair: 53BP1 comes into focus
    • Panier S, Boulton SJ. Double-strand break repair: 53BP1 comes into focus. Nat Rev Mol Cell Biol 2014; 15:7-18.
    • (2014) Nat Rev Mol Cell Biol , vol.15 , pp. 7-18
    • Panier, S.1    Boulton, S.J.2
  • 3
    • 0037169354 scopus 로고    scopus 로고
    • Cancer susceptibility and the functions of BRCA1 and BRCA2
    • Venkitaraman AR. Cancer susceptibility and the functions of BRCA1 and BRCA2. Cell 2002; 108:171-182.
    • (2002) Cell , vol.108 , pp. 171-182
    • Venkitaraman, A.R.1
  • 6
    • 84908632027 scopus 로고    scopus 로고
    • Stress and DNA repair biology of the Fanconi anemia pathway
    • Longerich S, Li J, Xiong Y, Sung P, Kupfer GM. Stress and DNA repair biology of the Fanconi anemia pathway. Blood 2014; 124:2812-2819.
    • (2014) Blood , vol.124 , pp. 2812-2819
    • Longerich, S.1    Li, J.2    Xiong, Y.3    Sung, P.4    Kupfer, G.M.5
  • 7
    • 70349112712 scopus 로고    scopus 로고
    • Nuclear DNA damage as a direct cause of aging
    • Best BP. Nuclear DNA damage as a direct cause of aging. Rejuvenation Res 2009; 12:199-208.
    • (2009) Rejuvenation Res , vol.12 , pp. 199-208
    • Best, B.P.1
  • 8
    • 33749037701 scopus 로고    scopus 로고
    • Mechanism of homologous recombination: mediators and helicases take on regulatory functions
    • Sung P, Klein H. Mechanism of homologous recombination: mediators and helicases take on regulatory functions. Nat Rev Mol Cell Biol 2006; 7:739-750.
    • (2006) Nat Rev Mol Cell Biol , vol.7 , pp. 739-750
    • Sung, P.1    Klein, H.2
  • 10
    • 84893119595 scopus 로고    scopus 로고
    • Reversal of female infertility by Chk2 ablation reveals the oocyte DNA damage checkpoint pathway
    • Bolcun-Filas E, Rinaldi VD, White ME, Schimenti JC. Reversal of female infertility by Chk2 ablation reveals the oocyte DNA damage checkpoint pathway. Science 2014; 343:533-536.
    • (2014) Science , vol.343 , pp. 533-536
    • Bolcun-Filas, E.1    Rinaldi, V.D.2    White, M.E.3    Schimenti, J.C.4
  • 11
    • 84896505494 scopus 로고    scopus 로고
    • Defying DNA double-strand break-induced death during prophase I meiosis by temporal TAp63a phosphorylation regulation in developing mouse oocytes
    • Kim D, Suh E. Defying DNA double-strand break-induced death during prophase I meiosis by temporal TAp63a phosphorylation regulation in developing mouse oocytes. Mol Cell Biol 2014; 34:1460-1473.
    • (2014) Mol Cell Biol , vol.34 , pp. 1460-1473
    • Kim, D.1    Suh, E.2
  • 12
    • 77954688615 scopus 로고    scopus 로고
    • DNA double strand break repair, chromosome synapsis and transcriptional silencing in meiosis
    • Inagaki A, Schoenmakers S, Baarends WM. DNA double strand break repair, chromosome synapsis and transcriptional silencing in meiosis. Epigenetics 2010; 5:255-266.
    • (2010) Epigenetics , vol.5 , pp. 255-266
    • Inagaki, A.1    Schoenmakers, S.2    Baarends, W.M.3
  • 13
    • 74949092641 scopus 로고    scopus 로고
    • Association of BRCA1 mutations with occult primary ovarian insufficiency: a possible explanation for the link between infertility and breast/ovarian cancer risks
    • Oktay K, Kim JY, Barad D, Babayev SN. Association of BRCA1 mutations with occult primary ovarian insufficiency: a possible explanation for the link between infertility and breast/ovarian cancer risks. J Clin Oncol 2010; 28:240-244.
    • (2010) J Clin Oncol , vol.28 , pp. 240-244
    • Oktay, K.1    Kim, J.Y.2    Barad, D.3    Babayev, S.N.4
  • 16
    • 84905460409 scopus 로고    scopus 로고
    • Hypersensitivity of primordial germ cells to compromised replication-associated DNA repair involves ATM-p53-p21 signaling
    • Luo Y, Hartford SA, Zeng R, Southard TL, Shima N, Schimenti JC. Hypersensitivity of primordial germ cells to compromised replication-associated DNA repair involves ATM-p53-p21 signaling. PLoS Genet 2014; 10:e1004471.
    • (2014) PLoS Genet , vol.10
    • Luo, Y.1    Hartford, S.A.2    Zeng, R.3    Southard, T.L.4    Shima, N.5    Schimenti, J.C.6
  • 19
    • 84924062538 scopus 로고    scopus 로고
    • Changes in the expression of DNA double strand break repair genes in primordial follicles from immature and aged rats
    • Govindaraj V, Keralapura Basavaraju R, Rao AJ. Changes in the expression of DNA double strand break repair genes in primordial follicles from immature and aged rats. Reprod Biomed Online 2015; 30:303-310.
    • (2015) Reprod Biomed Online , vol.30 , pp. 303-310
    • Govindaraj, V.1    Keralapura Basavaraju, R.2    Rao, A.J.3
  • 20
    • 0035018530 scopus 로고    scopus 로고
    • Impaired DNA damage response in cells expressing an exon 11-deleted murine Brca1 variant that localizes to nuclear foci
    • Huber LJ, Yang TW, Sarkisian CJ, Master SR, Deng CX, Chodosh LA. Impaired DNA damage response in cells expressing an exon 11-deleted murine Brca1 variant that localizes to nuclear foci. Mol Cell Biol 2001; 21:4005-4015.
    • (2001) Mol Cell Biol , vol.21 , pp. 4005-4015
    • Huber, L.J.1    Yang, T.W.2    Sarkisian, C.J.3    Master, S.R.4    Deng, C.X.5    Chodosh, L.A.6
  • 21
    • 0033106326 scopus 로고    scopus 로고
    • Centrosome amplification and a defective G2-M cell cycle checkpoint induce genetic instability in BRCA1 exon 11 isoform-deficient cells
    • Xu X, Weaver Z, Linke SP, Li C, Gotay J, Wang XW, Harris CC, Ried T, Deng CX. Centrosome amplification and a defective G2-M cell cycle checkpoint induce genetic instability in BRCA1 exon 11 isoform-deficient cells. Mol Cell 1999; 3:389-395.
    • (1999) Mol Cell , vol.3 , pp. 389-395
    • Xu, X.1    Weaver, Z.2    Linke, S.P.3    Li, C.4    Gotay, J.5    Wang, X.W.6    Harris, C.C.7    Ried, T.8    Deng, C.X.9
  • 23
    • 84938966267 scopus 로고    scopus 로고
    • Increased DNA damage and repair deficiency in granulosa cells are associated with ovarian aging in rhesus monkey
    • Zhang D, Zhang X, Zeng M, Yuan J, Liu M, Yin Y, Wu X, Keefe DL, Liu L. Increased DNA damage and repair deficiency in granulosa cells are associated with ovarian aging in rhesus monkey. J Assist Reprod Genet 2015; 32:1069-1078.
    • (2015) J Assist Reprod Genet , vol.32 , pp. 1069-1078
    • Zhang, D.1    Zhang, X.2    Zeng, M.3    Yuan, J.4    Liu, M.5    Yin, Y.6    Wu, X.7    Keefe, D.L.8    Liu, L.9
  • 25
    • 4143068997 scopus 로고    scopus 로고
    • NOBOX deficiency disrupts early folliculogenesis and oocyte-specific gene expression
    • Rajkovic A, Pangas SA, Ballow D, Suzumori N, Matzuk MM. NOBOX deficiency disrupts early folliculogenesis and oocyte-specific gene expression. Science 2004; 305:1157-1159.
    • (2004) Science , vol.305 , pp. 1157-1159
    • Rajkovic, A.1    Pangas, S.A.2    Ballow, D.3    Suzumori, N.4    Matzuk, M.M.5
  • 26
    • 84901598388 scopus 로고    scopus 로고
    • 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. Age-related decline in DNA repair function explains diminished ovarian reserve, earlier menopause, and possible oocyte vulnerability to chemotherapy in women with BRCA mutations. J Clin Oncol 2014; 32:1093-1094.
    • (2014) J Clin Oncol , vol.32 , pp. 1093-1094
    • Oktay, K.1    Moy, F.2    Titus, S.3    Stobezki, R.4    Turan, V.5    Dickler, M.6    Goswami, S.7
  • 27
    • 84943235822 scopus 로고    scopus 로고
    • Delayed childbearing: impacts on fecundity and treatment
    • Anaya Y, Tran ND. Delayed childbearing: impacts on fecundity and treatment. Med J Obstet Gynecol 2013; 1:1009.
    • (2013) Med J Obstet Gynecol , vol.1 , pp. 1009
    • Anaya, Y.1    Tran, N.D.2
  • 29
    • 0027064693 scopus 로고
    • Accelerated disappearance of ovarian follicles in mid-life: implications for forecasting menopause
    • Faddy MJ, Gosden RG, Gougeon A, Richardson SJ, Nelson JF. Accelerated disappearance of ovarian follicles in mid-life: implications for forecasting menopause. Hum Reprod 1992; 7:1342-1346.
    • (1992) Hum Reprod , vol.7 , pp. 1342-1346
    • Faddy, M.J.1    Gosden, R.G.2    Gougeon, A.3    Richardson, S.J.4    Nelson, J.F.5
  • 30
    • 40049093400 scopus 로고    scopus 로고
    • Meiosis in oocytes: predisposition to aneuploidy and its increased incidence with age
    • Jones KT. Meiosis in oocytes: predisposition to aneuploidy and its increased incidence with age. Hum Reprod Update 2008; 14:143-158.
    • (2008) Hum Reprod Update , vol.14 , pp. 143-158
    • Jones, K.T.1
  • 32
    • 85046912733 scopus 로고    scopus 로고
    • Playing for half the deck: the molecular biology of meiosis
    • Champion MD, Hawley RS. Playing for half the deck: the molecular biology of meiosis. Nat Cell Biol 2002; 4(suppl):s50-s56.
    • (2002) Nat Cell Biol , vol.4 , pp. s50-s56
    • Champion, M.D.1    Hawley, R.S.2
  • 33
    • 0014404553 scopus 로고
    • Chiasma frequency and maternal age in mammals
    • Henderson SA, Edwards RG. Chiasma frequency and maternal age in mammals. Nature 1968; 218:22-28.
    • (1968) Nature , vol.218 , pp. 22-28
    • Henderson, S.A.1    Edwards, R.G.2
  • 34
    • 52049125979 scopus 로고    scopus 로고
    • Methylnitrosourea as challenge mutagen in assessment of the DNA mismatch repair (MMR) activity: association with some types of cancer [in Russian]
    • Tronov VA, Loginova MIu, Kramarenko II. Methylnitrosourea as challenge mutagen in assessment of the DNA mismatch repair (MMR) activity: association with some types of cancer [in Russian]. Genetika 2008; 44:686-692.
    • (2008) Genetika , vol.44 , pp. 686-692
    • Tronov, V.A.1    Loginova, M.I.2    Kramarenko, I.I.3
  • 35
    • 33746662847 scopus 로고    scopus 로고
    • Cohesin and DNA damage repair
    • Watrin E, Peters J. Cohesin and DNA damage repair. Exp Cell Res 2006; 312:2687-2693.
    • (2006) Exp Cell Res , vol.312 , pp. 2687-2693
    • Watrin, E.1    Peters, J.2
  • 36
    • 40549093629 scopus 로고    scopus 로고
    • Cell biology of cancer: BRCA1 and sister chromatid pairing reactions?
    • Skibbens RV. Cell biology of cancer: BRCA1 and sister chromatid pairing reactions? Cell Cycle 2008; 7:449-452.
    • (2008) Cell Cycle , vol.7 , pp. 449-452
    • Skibbens, R.V.1
  • 37
    • 0036500555 scopus 로고    scopus 로고
    • Involvement of the cohesin protein, Smc1, in Atm-dependent and independent responses to DNA damage
    • Kim ST, Xu B, Kastan MB. Involvement of the cohesin protein, Smc1, in Atm-dependent and independent responses to DNA damage. Genes Dev 2002; 16:560-570.
    • (2002) Genes Dev , vol.16 , pp. 560-570
    • Kim, S.T.1    Xu, B.2    Kastan, M.B.3
  • 38
    • 0028332166 scopus 로고
    • The evolution of ovarian oocyte decline with aging and possible relationships to Down syndrome and Alzheimer disease
    • Finch CE. The evolution of ovarian oocyte decline with aging and possible relationships to Down syndrome and Alzheimer disease. Exp Gerontol 1994; 29:299-304.
    • (1994) Exp Gerontol , vol.29 , pp. 299-304
    • Finch, C.E.1
  • 39
    • 77952090078 scopus 로고    scopus 로고
    • Telomere length is associated with types of chromosome 21 nondisjunction: a new insight into the maternal age effect on Down syndrome birth
    • Ghosh S, Feingold E, Chakraborty S, Dey SK. Telomere length is associated with types of chromosome 21 nondisjunction: a new insight into the maternal age effect on Down syndrome birth. Hum Genet 2010; 127:403-409.
    • (2010) Hum Genet , vol.127 , pp. 403-409
    • Ghosh, S.1    Feingold, E.2    Chakraborty, S.3    Dey, S.K.4
  • 41
    • 57449083497 scopus 로고    scopus 로고
    • Telomeres and reproductive aging
    • Keefe DL, Liu L. Telomeres and reproductive aging. Reprod Fertil Dev 2009; 21:10-14.
    • (2009) Reprod Fertil Dev , vol.21 , pp. 10-14
    • Keefe, D.L.1    Liu, L.2
  • 43
    • 79959833877 scopus 로고    scopus 로고
    • Telomere DNA deficiency is associated with development of human embryonic aneuploidy
    • Treff NR, Su J, Taylor D, Scott RT. Telomere DNA deficiency is associated with development of human embryonic aneuploidy. PLoS Genet 2011; 7:e1002161.
    • (2011) PLoS Genet , vol.7
    • Treff, N.R.1    Su, J.2    Taylor, D.3    Scott, R.T.4
  • 44
    • 59649093839 scopus 로고    scopus 로고
    • BRCA1 knock-down causes telomere dysfunction in mammary epithelial cells
    • Cabuy E, Newton C, Slijepcevic P. BRCA1 knock-down causes telomere dysfunction in mammary epithelial cells. Cytogenet Genome Res 2009; 122:336-342.
    • (2009) Cytogenet Genome Res , vol.122 , pp. 336-342
    • Cabuy, E.1    Newton, C.2    Slijepcevic, P.3
  • 47
    • 84884519926 scopus 로고    scopus 로고
    • BRCA1 in the DNA damage response and at telomeres
    • Rosen EM. BRCA1 in the DNA damage response and at telomeres. Front Genet 2013; 4:85.
    • (2013) Front Genet , vol.4 , pp. 85
    • Rosen, E.M.1
  • 48
    • 34247346068 scopus 로고    scopus 로고
    • Haploinsufficiency of Parp1 accelerates Brca1-associated centrosome amplification, telomere shortening, genetic instability, apoptosis, and embryonic lethality
    • Wang X, Liu L, Montagna C, Ried T, Deng CX. Haploinsufficiency of Parp1 accelerates Brca1-associated centrosome amplification, telomere shortening, genetic instability, apoptosis, and embryonic lethality. Cell Death Differ 2007; 14:924-931.
    • (2007) Cell Death Differ , vol.14 , pp. 924-931
    • Wang, X.1    Liu, L.2    Montagna, C.3    Ried, T.4    Deng, C.X.5
  • 49
    • 83055167028 scopus 로고    scopus 로고
    • Telomere shortening alters the kinetics of the DNA damage response after ionizing radiation in human cells
    • Drissi R, Wu J, Hu Y, Bockhold CA, Dome JS. Telomere shortening alters the kinetics of the DNA damage response after ionizing radiation in human cells. Cancer Prev Res (Phila) 2011; 4:1973-1981.
    • (2011) Cancer Prev Res (Phila) , vol.4 , pp. 1973-1981
    • Drissi, R.1    Wu, J.2    Hu, Y.3    Bockhold, C.A.4    Dome, J.S.5
  • 50
    • 53349097113 scopus 로고    scopus 로고
    • BRCA1 is required for meiotic spindle assembly and spindle assembly checkpoint activation in mouse oocytes
    • Xiong B, Li S, Ai JS, Yin S, Ouyang YC, Sun SC, Chen DY, Sun QY. BRCA1 is required for meiotic spindle assembly and spindle assembly checkpoint activation in mouse oocytes. Biol Reprod 2008; 79:718-726.
    • (2008) Biol Reprod , vol.79 , pp. 718-726
    • Xiong, B.1    Li, S.2    Ai, J.S.3    Yin, S.4    Ouyang, Y.C.5    Sun, S.C.6    Chen, D.Y.7    Sun, Q.Y.8
  • 52
    • 0036249991 scopus 로고    scopus 로고
    • Checkpoint for DNA integrity at the first mitosis after oocyte activation
    • Liu L, Trimarchi JR, Smith PJS, Keefe DL. Checkpoint for DNA integrity at the first mitosis after oocyte activation. Mol Reprod Dev 2002; 62:277-288.
    • (2002) Mol Reprod Dev , vol.62 , pp. 277-288
    • Liu, L.1    Trimarchi, J.R.2    Smith, P.J.S.3    Keefe, D.L.4
  • 55
    • 84876683751 scopus 로고    scopus 로고
    • 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. Comparison of age at natural menopause in BRCA1/2 mutation carriers with a non-clinic-based sample of women in northern California. Cancer 2013; 119:1652-1659.
    • (2013) Cancer , vol.119 , pp. 1652-1659
    • Lin, W.T.1    Beattie, M.2    Chen, L.M.3    Oktay, K.4    Crawford, S.L.5    Gold, E.B.6    Cedars, M.7    Rosen, M.8
  • 57
    • 77949916951 scopus 로고    scopus 로고
    • Fertility in women with BRCA mutations: a case-control study
    • Pal T, Keefe D, Sun P, Narod SA. Fertility in women with BRCA mutations: a case-control study. Fertil Steril 2010; 93:1805-1808.
    • (2010) Fertil Steril , vol.93 , pp. 1805-1808
    • Pal, T.1    Keefe, D.2    Sun, P.3    Narod, S.A.4
  • 58
    • 77249112200 scopus 로고    scopus 로고
    • Impact of BRCA mutations on female fertility and offspring sex ratio
    • Moslehi R, Singh R, Lessner L, Friedman JM. Impact of BRCA mutations on female fertility and offspring sex ratio. Am J Hum Biol 2010; 22:201-205.
    • (2010) Am J Hum Biol , vol.22 , pp. 201-205
    • Moslehi, R.1    Singh, R.2    Lessner, L.3    Friedman, J.M.4
  • 59
    • 84863393398 scopus 로고    scopus 로고
    • Effects of BRCA1 and BRCA2 mutations on female fertility
    • Smith KR. Hanson HA, Mineau GP, Buys SS. Effects of BRCA1 and BRCA2 mutations on female fertility. Proc Biol Sci 2012; 279:1389-1395.
    • (2012) Proc Biol Sci , vol.279 , pp. 1389-1395
    • Smith, K.R.1    Hanson, H.A.2    Mineau, G.P.3    Buys, S.S.4
  • 63
    • 84891606793 scopus 로고    scopus 로고
    • 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. 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. J Clin Oncol 2013; 31:3920-3925.
    • (2013) J Clin Oncol , vol.31 , pp. 3920-3925
    • Collins, I.M.1    Milne, R.L.2    McLachlan, S.A.3    Friedlander, M.4    Hickey, M.5    Weideman, P.C.6    Birch, K.E.7    Hopper, J.L.8    Phillips, K.A.9
  • 64
    • 84876956839 scopus 로고    scopus 로고
    • BRCA mutations and fertility: do not push the envelope!
    • Santoro N. BRCA mutations and fertility: do not push the envelope! Fertil Steril 2013; 99:1560.
    • (2013) Fertil Steril , vol.99 , pp. 1560
    • Santoro, N.1


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.