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Volumn 7, Issue 9, 2012, Pages

BRCA1/2 Mutations Appear Embryo-Lethal Unless Rescued by Low (CGG n<26) FMR1 Sub-Genotypes: Explanation for the "BRCA Paradox"?

Author keywords

[No Author keywords available]

Indexed keywords

BRCA1 PROTEIN; BRCA2 PROTEIN; FRAGILE X MENTAL RETARDATION PROTEIN;

EID: 84866340519     PISSN: None     EISSN: 19326203     Source Type: Journal    
DOI: 10.1371/journal.pone.0044753     Document Type: Article
Times cited : (28)

References (35)
  • 1
    • 79961128595 scopus 로고    scopus 로고
    • CGG repeat in the FMR1 gene: size matters
    • Willemsen R, Levenga J, Oostra BA, (2011) CGG repeat in the FMR1 gene: size matters. Clin Genet 80: 214-25.
    • (2011) Clin Genet , vol.80 , pp. 214-225
    • Willemsen, R.1    Levenga, J.2    Oostra, B.A.3
  • 3
    • 77954309591 scopus 로고    scopus 로고
    • Ovarian reserve determinations suggest new function of FMR1 (fragile X gene) in regulating ovarian ageing
    • Gleicher N, Weghofer A, Barad DH, (2010) Ovarian reserve determinations suggest new function of FMR1 (fragile X gene) in regulating ovarian ageing. Reprod Biomed Online 20: 768-75.
    • (2010) Reprod Biomed Online , vol.20 , pp. 768-775
    • Gleicher, N.1    Weghofer, A.2    Barad, D.H.3
  • 4
    • 78650719629 scopus 로고    scopus 로고
    • FMR1 genotype with autoimmunity-associated polycystic ovary-like phenotype and decreased pregnancy chance
    • Gleicher N, Weghofer A, Lee IH, Barad DH, (2010) FMR1 genotype with autoimmunity-associated polycystic ovary-like phenotype and decreased pregnancy chance. PLoS ONE 5: e15303.
    • (2010) PLoS ONE , vol.5
    • Gleicher, N.1    Weghofer, A.2    Lee, I.H.3    Barad, D.H.4
  • 5
    • 77951652465 scopus 로고    scopus 로고
    • Effects of race/ethnicity on triple CGG counts in the FMR1 gene in infertile women and egg donors
    • Gleicher N, Weghofer A, Barad DH, (2010) Effects of race/ethnicity on triple CGG counts in the FMR1 gene in infertile women and egg donors. Reprod Biomed Online 20: 485-491.
    • (2010) Reprod Biomed Online , vol.20 , pp. 485-491
    • Gleicher, N.1    Weghofer, A.2    Barad, D.H.3
  • 6
    • 79954546892 scopus 로고    scopus 로고
    • Association of FMR1 genotypes with in vitro fertilization (IVF) outcomes based on ethnicity/race
    • Gleicher N, Weghofer A, Lee IH, Barad DH, (2011) Association of FMR1 genotypes with in vitro fertilization (IVF) outcomes based on ethnicity/race. PLoS ONE 6: e18781.
    • (2011) PLoS ONE , vol.6
    • Gleicher, N.1    Weghofer, A.2    Lee, I.H.3    Barad, D.H.4
  • 7
    • 0344668735 scopus 로고    scopus 로고
    • The (CGG)n repeat element within the 5' untranslated region of the FMR1 message provides both positive and negative cis effects on in vivo translation of a downstream reporter
    • Chen LS, Tassone FT, Sahota P, Hagerman PJ, (2003) The (CGG)n repeat element within the 5' untranslated region of the FMR1 message provides both positive and negative cis effects on in vivo translation of a downstream reporter. Hum Molec Genet 12: 3067-74.
    • (2003) Hum Molec Genet , vol.12 , pp. 3067-3074
    • Chen, L.S.1    Tassone, F.T.2    Sahota, P.3    Hagerman, P.J.4
  • 8
    • 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, (2010) 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 28: 240-4.
    • (2010) J Clin Oncol , vol.28 , pp. 240-244
    • Oktay, K.1    Kim, J.Y.2    Barad, D.3    Babayev, S.N.4
  • 9
    • 0033572622 scopus 로고    scopus 로고
    • Denaturing high-performance liquid chromatography detects reliably BRCA1 and BRCA2 mutations
    • Wagner T, Stoppa-Lyonnet D, Fleischmann E, Muhr D, Pages S, et al. (1999) Denaturing high-performance liquid chromatography detects reliably BRCA1 and BRCA2 mutations. Genomics 62: 369-76.
    • (1999) Genomics , vol.62 , pp. 369-376
    • Wagner, T.1    Stoppa-Lyonnet, D.2    Fleischmann, E.3    Muhr, D.4    Pages, S.5
  • 11
    • 0033612247 scopus 로고    scopus 로고
    • Mosaicism in a fragile X male including a de novo deletion in the FMR1 gene
    • Petek E, Kroisel PM, Schuster M, Zierler H, Wagner K, (1999) Mosaicism in a fragile X male including a de novo deletion in the FMR1 gene. Am. J Med Genet 84: 229-32.
    • (1999) Am J Med Genet , vol.84 , pp. 229-232
    • Petek, E.1    Kroisel, P.M.2    Schuster, M.3    Zierler, H.4    Wagner, K.5
  • 12
    • 33749007676 scopus 로고    scopus 로고
    • Mouse models of BRCA1 and BRCA2 deficiency: past lessons, current understanding and future prospects
    • Evers B, Jonkers J, (2006) Mouse models of BRCA1 and BRCA2 deficiency: past lessons, current understanding and future prospects. Oncogene 25: 5885-97.
    • (2006) Oncogene , vol.25 , pp. 5885-5897
    • Evers, B.1    Jonkers, J.2
  • 14
    • 0031033343 scopus 로고    scopus 로고
    • Mutations and alternative splicing of the BRCA1 gene in UK breast/ovarian cancer families
    • Xu CF, Chambers JA, Nicolai H, Brown MA, Hujeirat Y, et al. (1997) Mutations and alternative splicing of the BRCA1 gene in UK breast/ovarian cancer families. Genes Chromosomes Cancer 18: 102-10.
    • (1997) Genes Chromosomes Cancer , vol.18 , pp. 102-110
    • Xu, C.F.1    Chambers, J.A.2    Nicolai, H.3    Brown, M.A.4    Hujeirat, Y.5
  • 15
    • 0037439071 scopus 로고
    • Senescence, aging, and malignant transformation mediated by p53 in mice lacking the Brca1 full-length isoform
    • Cao L, Li W, Kim S, Brodie SG, Deng CX, (1993) Senescence, aging, and malignant transformation mediated by p53 in mice lacking the Brca1 full-length isoform. Genes Dev 17: 201-13.
    • (1993) Genes Dev , vol.17 , pp. 201-213
    • Cao, L.1    Li, W.2    Kim, S.3    Brodie, S.G.4    Deng, C.X.5
  • 16
    • 0030981170 scopus 로고    scopus 로고
    • Partial rescue of Brca1 (5-6) early embryonic lethality by p53 or p21 null mutation
    • Hakem R, de la Pompa JL, Elia A, Potter J, Mark TW, (1997) Partial rescue of Brca1 (5-6) early embryonic lethality by p53 or p21 null mutation. Nat Genet 16: 298-302.
    • (1997) Nat Genet , vol.16 , pp. 298-302
    • Hakem, R.1    de la Pompa, J.L.2    Elia, A.3    Potter, J.4    Mark, T.W.5
  • 17
    • 0030924656 scopus 로고    scopus 로고
    • Targeted mutations of breast cancer susceptibility gene homologs in mice: lethal phenotypes of Brca1, Brca2, Brca1/Brca2, Brca1/p53, and Brca2/p53 nullizygous embryos
    • Ludwig T, Chapman DL, Papaioannou VE, Efstratiadis A, (1997) Targeted mutations of breast cancer susceptibility gene homologs in mice: lethal phenotypes of Brca1, Brca2, Brca1/Brca2, Brca1/p53, and Brca2/p53 nullizygous embryos. Genes Dev 11: 1226-41.
    • (1997) Genes Dev , vol.11 , pp. 1226-1241
    • Ludwig, T.1    Chapman, D.L.2    Papaioannou, V.E.3    Efstratiadis, A.4
  • 18
    • 84858025251 scopus 로고    scopus 로고
    • An encore for the repeats: New insights into an old genetic variant
    • Krausz C, (2012) An encore for the repeats: New insights into an old genetic variant. J Clin Endocrinol Metab 97: 764-767.
    • (2012) J Clin Endocrinol Metab , vol.97 , pp. 764-767
    • Krausz, C.1
  • 19
    • 33847083891 scopus 로고    scopus 로고
    • Gender as risk factor for autoimmune diseases
    • Gleicher N, Barad DH, (2007) Gender as risk factor for autoimmune diseases. J Autoimmun 28: 1-6.
    • (2007) J Autoimmun , vol.28 , pp. 1-6
    • Gleicher, N.1    Barad, D.H.2
  • 20
    • 84863229265 scopus 로고    scopus 로고
    • Shorter androgen receptor CAG repeat lengths associated with cryptorchidism risk among Hispanic white boys
    • Davis-Dao C, Koh CJ, Hardy BE, Chang A, Kim SS, et al. (2012) Shorter androgen receptor CAG repeat lengths associated with cryptorchidism risk among Hispanic white boys. J Clin Endocrinol Metab 97;E393-E399.
    • (2012) J Clin Endocrinol Metab , vol.97
    • Davis-Dao, C.1    Koh, C.J.2    Hardy, B.E.3    Chang, A.4    Kim, S.S.5
  • 21
    • 84858746281 scopus 로고    scopus 로고
    • Cutting edge assessment of the impact of autoimmunity on female reproductive success
    • Gleicher N, Weghofer A, Barad DH, (2012) Cutting edge assessment of the impact of autoimmunity on female reproductive success. J Autoimmun 38: J74-J80.
    • (2012) J Autoimmun , vol.38
    • Gleicher, N.1    Weghofer, A.2    Barad, D.H.3
  • 22
    • 85081772110 scopus 로고    scopus 로고
    • Altekruse SF, Kosary CL, Krapcho M,et al. SEER Cancer Statistics Review 1975-2007, Bethesda, MD, National Cancer Institute (Accessed at http://seer.cancer.gov/csr/1975_2007/.).
  • 23
    • 46949098149 scopus 로고    scopus 로고
    • Hereditary breast cancer: new genetic developments, new therapeutic avenues
    • Campeau PM, Foulkes WD, Tischkowitz MD, (2008) Hereditary breast cancer: new genetic developments, new therapeutic avenues. Human Genetics 124: 31-42.
    • (2008) Human Genetics , vol.124 , pp. 31-42
    • Campeau, P.M.1    Foulkes, W.D.2    Tischkowitz, M.D.3
  • 24
    • 34447335843 scopus 로고    scopus 로고
    • Cancer risks in carriers of the BRCA1/2 Ashkenazi founder mutations
    • Kadouri L, Hubert A, Rotenberg Y, Hamburger T, Sagi M, et al. (2007) Cancer risks in carriers of the BRCA1/2 Ashkenazi founder mutations. J Med Genet 44: 467-71.
    • (2007) J Med Genet , vol.44 , pp. 467-471
    • Kadouri, L.1    Hubert, A.2    Rotenberg, Y.3    Hamburger, T.4    Sagi, M.5
  • 25
    • 0037130887 scopus 로고    scopus 로고
    • Cancer Incidence in BRCA1 mutation carriers
    • Thompson D, Easton DF, (2002) Cancer Incidence in BRCA1 mutation carriers. J Nat Cancer Inst 94: 1358-65.
    • (2002) J Nat Cancer Inst , vol.94 , pp. 1358-1365
    • Thompson, D.1    Easton, D.F.2
  • 26
    • 0033523268 scopus 로고    scopus 로고
    • Cancer risks in BRCA2 mutation carriers
    • The Breast Cancer Linkage Consortium
    • The Breast Cancer Linkage Consortium, (1999) Cancer risks in BRCA2 mutation carriers. J Nat Cancer Inst 91: 1310-6.
    • (1999) J Nat Cancer Inst , vol.91 , pp. 1310-1316
  • 27
    • 0034936364 scopus 로고    scopus 로고
    • Evidence for further breast cancer susceptibility genes in addition to BRCA1 and BRCA2 in a population-based study
    • Antoniou AC, Pharoah PD, McMullan G, Day NE, Ponder BA, et al. (2001) Evidence for further breast cancer susceptibility genes in addition to BRCA1 and BRCA2 in a population-based study. Genet Epidemiol 21: 1-18.
    • (2001) Genet Epidemiol , vol.21 , pp. 1-18
    • Antoniou, A.C.1    Pharoah, P.D.2    McMullan, G.3    Day, N.E.4    Ponder, B.A.5
  • 28
    • 37549036689 scopus 로고    scopus 로고
    • Prevalence of pathogenic BRCA1 mutation carriers in 5 US racial/ethnic groups
    • John EM, Miron A, Gong G, Phipps AI, Felberg A, et al. (2007) Prevalence of pathogenic BRCA1 mutation carriers in 5 US racial/ethnic groups. JAMA 298: 2869-76.
    • (2007) JAMA , vol.298 , pp. 2869-2876
    • John, E.M.1    Miron, A.2    Gong, G.3    Phipps, A.I.4    Felberg, A.5
  • 29
    • 35648963187 scopus 로고    scopus 로고
    • BRCA1 and BRCA2 genetic testing in Hispanic patients: mutation prevalence and evaluation of the BRCAPRO risk assessment model
    • Vogel KJ, Atchley DP, Erlichman J, Broglio KR, Ready KJ, et al. (2007) BRCA1 and BRCA2 genetic testing in Hispanic patients: mutation prevalence and evaluation of the BRCAPRO risk assessment model. J Clin Oncol 25: 4635-41.
    • (2007) J Clin Oncol , vol.25 , pp. 4635-4641
    • Vogel, K.J.1    Atchley, D.P.2    Erlichman, J.3    Broglio, K.R.4    Ready, K.J.5
  • 30
    • 33748092354 scopus 로고    scopus 로고
    • Prevalence and predictors of BRCA1 and BRCA2 mutations in a population-based study of breast cancer in white and black American women ages 35 to 64 years
    • Malone KE, Daling JR, Doody DR, Hsu L, Bernstin L, et al. (2006) Prevalence and predictors of BRCA1 and BRCA2 mutations in a population-based study of breast cancer in white and black American women ages 35 to 64 years. Cancer Res 66: 8297-308.
    • (2006) Cancer Res , vol.66 , pp. 8297-8308
    • Malone, K.E.1    Daling, J.R.2    Doody, D.R.3    Hsu, L.4    Bernstin, L.5
  • 32
    • 85081764184 scopus 로고    scopus 로고
    • Have racial disparities in ovarian cancer increased over time? An analysis of SEER data
    • Nov 21 [Epub ahead of print]
    • Terplan M, Schluterman N, McNamara EJ, Tracy JK, Temkin SM (2011) Have racial disparities in ovarian cancer increased over time? An analysis of SEER data. Gynecol Oncol Nov 21 [Epub ahead of print].
    • (2011) Gynecol Oncol
    • Terplan, M.1    Schluterman, N.2    McNamara, E.J.3    Tracy, J.K.4    Temkin, S.M.5
  • 34
    • 0019256512 scopus 로고
    • Common denominators of pregnancy and malignancy
    • Gleicher N, Siegel I, Francus K, (1980) Common denominators of pregnancy and malignancy. Mt Sinai J Med 47: 511-520.
    • (1980) Mt Sinai J Med , vol.47 , pp. 511-520
    • Gleicher, N.1    Siegel, I.2    Francus, K.3
  • 35
    • 0019764382 scopus 로고
    • Common denominators of pregnancy and malignancy
    • Gleicher N, Siegel I, (1981) Common denominators of pregnancy and malignancy. Prog Clin Biol Res 70: 339-353.
    • (1981) Prog Clin Biol Res , vol.70 , pp. 339-353
    • Gleicher, N.1    Siegel, I.2


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