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Volumn 4, Issue 7, 2014, Pages 804-815

Rare mutations in RINT1 predispose carriers to breast and lynch syndrome-Spectrum cancers

(37)  Park, Daniel J a   Tao, Kayoko f   Le Calvez Kelm, Florence o   Nguyen Dumont, Tu a   Robinot, Nivonirina o   Hammet, Fleur a   Odefrey, Fabrice a   Tsimiklis, Helen a   Teo, Zhi L a   Thingholm, Louise B a   Young, Erin L f   Voegele, Catherine o   Lonie, Andrew c   Pope, Bernard J a,c   Roane, Terrell C h   Bell, Russell f   Hu, Hao i   Shankaracharya, i   Huff, Chad D i   Ellis, Jonathan e   more..


Author keywords

[No Author keywords available]

Indexed keywords

ADULT; ARTICLE; BIOINFORMATICS; BREAST CANCER; CANCER INCIDENCE; CANCER RISK; CASE CONTROL STUDY; COMPUTER MODEL; CONTROLLED STUDY; FEMALE; GENE; GENE EXPRESSION; GENE FREQUENCY; GENE MUTATION; GENE SEQUENCE; GENETIC VARIABILITY; GENOTYPING TECHNIQUE; HEREDITARY NONPOLYPOSIS COLORECTAL CANCER; HUMAN; MAJOR CLINICAL STUDY; MISSENSE MUTATION; MUTATIONAL ANALYSIS; NUCLEOTIDE SEQUENCE; PEDIGREE ANALYSIS; PHYLOGENY; REVERSE TRANSCRIPTION POLYMERASE CHAIN REACTION; RINT1 GENE; RNA SPLICING; SCREENING; SEQUENCE ALIGNMENT; BREAST TUMOR; DNA SEQUENCE; EXOME; GENETIC PREDISPOSITION; GENETICS; HIGH THROUGHPUT SEQUENCING; MALE; MUTATION; PEDIGREE;

EID: 84904049854     PISSN: 21598274     EISSN: 21598290     Source Type: Journal    
DOI: 10.1158/2159-8290.CD-14-0212     Document Type: Article
Times cited : (40)

References (49)
  • 1
    • 0029955159 scopus 로고    scopus 로고
    • The genetic attributable risk of breast and ovarian cancer
    • Claus EB, Schildkraut JM, Thompson WD, Risch NJ. The genetic attributable risk of breast and ovarian cancer. Cancer 1996; 77: 2318-24.
    • (1996) Cancer , vol.77 , pp. 2318-2324
    • Claus, E.B.1    Schildkraut, J.M.2    Thompson, W.D.3    Risch, N.J.4
  • 2
    • 0028143018 scopus 로고
    • Systematic population-based assessment of cancer risk in first-degree relatives of cancer probands
    • Goldgar DE, Easton DF, Cannon-Albright LA, Skolnick MH. Systematic population-based assessment of cancer risk in first-degree relatives of cancer probands. J Natl Cancer Inst 1994; 86: 1600-8.
    • (1994) J Natl Cancer Inst , vol.86 , pp. 1600-1608
    • Goldgar, D.E.1    Easton, D.F.2    Cannon-Albright, L.A.3    Skolnick, M.H.4
  • 3
    • 0037054932 scopus 로고    scopus 로고
    • Attributable risks for familial breast cancer by proband status and morphology: A nationwide epidemiologic study from Sweden
    • Hemminki K, Granstrom C, Czene K. Attributable risks for familial breast cancer by proband status and morphology: a nationwide epidemiologic study from Sweden. Int J Cancer 2002; 100: 214-9.
    • (2002) Int J Cancer , vol.100 , pp. 214-219
    • Hemminki, K.1    Granstrom, C.2    Czene, K.3
  • 5
    • 84866932831 scopus 로고    scopus 로고
    • Exome sequencing identifies rare deleterious mutations in DNA repair genes FANCC and BLM as potential breast cancer susceptibility alleles
    • Thompson ER, Doyle MA, Ryland GL, Rowley SM, Choong DY, Tothill RW, et al. Exome sequencing identifies rare deleterious mutations in DNA repair genes FANCC and BLM as potential breast cancer susceptibility alleles. PLoS Genet 2012; 8: e1002894.
    • (2012) PLoS Genet , vol.8
    • Thompson, E.R.1    Doyle, M.A.2    Ryland, G.L.3    Rowley, S.M.4    Choong, D.Y.5    Tothill, R.W.6
  • 7
    • 84872621246 scopus 로고    scopus 로고
    • Mosaic PPM1D mutations are associated with predisposition to breast and ovarian cancer
    • Ruark E, Snape K, Humburg P, Loveday C, Bajrami I, Brough R, et al. Mosaic PPM1D mutations are associated with predisposition to breast and ovarian cancer. Nature 2013; 493: 406-10.
    • (2013) Nature , vol.493 , pp. 406-410
    • Ruark, E.1    Snape, K.2    Humburg, P.3    Loveday, C.4    Bajrami, I.5    Brough, R.6
  • 8
    • 84863990269 scopus 로고    scopus 로고
    • Predisposition gene identification in common cancers by exome sequencing: Insights from familial breast cancer
    • Snape K, Ruark E, Tarpey P, Renwick A, Turnbull C, Seal S, et al. Predisposition gene identification in common cancers by exome sequencing: insights from familial breast cancer. Breast Cancer Res Treat 2012; 134: 429-33.
    • (2012) Breast Cancer Res Treat , vol.134 , pp. 429-433
    • Snape, K.1    Ruark, E.2    Tarpey, P.3    Renwick, A.4    Turnbull, C.5    Seal, S.6
  • 9
    • 79961151538 scopus 로고    scopus 로고
    • Design considerations for massively parallel sequencing studies of complex human disease
    • Feng BJ, Tavtigian SV, Southey MC, Goldgar DE. Design considerations for massively parallel sequencing studies of complex human disease. PLoS ONE 2011; 6: e23221.
    • (2011) PLoS ONE , vol.6
    • Feng, B.J.1    Tavtigian, S.V.2    Southey, M.C.3    Goldgar, D.E.4
  • 10
    • 82255191753 scopus 로고    scopus 로고
    • FAN1 variants identified in multiple-case early-onset breast cancer families via exome sequencing: No evidence for association with risk for breast cancer
    • ABCFS
    • Park DJ, Odefrey FA, Hammet F, Giles GG, Baglietto L, ABCFS, et al. FAN1 variants identified in multiple-case early-onset breast cancer families via exome sequencing: no evidence for association with risk for breast cancer. Breast Cancer Res Treat 2011; 130: 1043-9.
    • (2011) Breast Cancer Res Treat , vol.130 , pp. 1043-1049
    • Park, D.J.1    Odefrey, F.A.2    Hammet, F.3    Giles, G.G.4    Baglietto, L.5
  • 17
    • 73949154143 scopus 로고    scopus 로고
    • Colorectal cancer due to deficiency in DNA mismatch repair function: A review
    • Bellizzi AM, Frankel WL. Colorectal cancer due to deficiency in DNA mismatch repair function: a review. Adv Anat Pathol 2009; 16: 405-17.
    • (2009) Adv Anat Pathol , vol.16 , pp. 405-417
    • Bellizzi, A.M.1    Frankel, W.L.2
  • 18
    • 84904025285 scopus 로고    scopus 로고
    • A unified test of linkage analysis and rare-variant association for analysis of pedigree sequence data
    • May 18. [Epub ahead of print]
    • Hu H, Roach JC, Coon H, Guthery SL, Voelkerding KV, Margraf RL, et al. A unified test of linkage analysis and rare-variant association for analysis of pedigree sequence data. Nature Biotechnol. 2014 May 18. [Epub ahead of print].
    • (2014) Nature Biotechnol.
    • Hu, H.1    Roach, J.C.2    Coon, H.3    Guthery, S.L.4    Voelkerding, K.V.5    Margraf, R.L.6
  • 20
    • 84881609951 scopus 로고    scopus 로고
    • VAAST 2.0: Improved variant classification and disease-gene identification using a conservation-controlled amino acid substitution matrix
    • Hu H, Huff CD, Moore B, Flygare S, Reese MG, Yandell M. VAAST 2.0: improved variant classification and disease-gene identification using a conservation-controlled amino acid substitution matrix. Genet Epidemiol 2013; 37: 622-34.
    • (2013) Genet Epidemiol , vol.37 , pp. 622-634
    • Hu, H.1    Huff, C.D.2    Moore, B.3    Flygare, S.4    Reese, M.G.5    Yandell, M.6
  • 21
    • 0035794203 scopus 로고    scopus 로고
    • RINT-1, a novel Rad50-interacting protein, participates in radiation-induced G(2)/M checkpoint control
    • Xiao J, Liu CC, Chen PL, Lee WH. RINT-1, a novel Rad50-interacting protein, participates in radiation-induced G(2)/M checkpoint control. J Biol Chem 2001; 276: 6105-11.
    • (2001) J Biol Chem , vol.276 , pp. 6105-6111
    • Xiao, J.1    Liu, C.C.2    Chen, P.L.3    Lee, W.H.4
  • 22
    • 34347329213 scopus 로고    scopus 로고
    • RINT-1 serves as a tumor suppressor and maintains Golgi dynamics and centrosome integrity for cell survival
    • Lin X, Liu CC, Gao Q, Zhang X, Wu G, Lee WH. RINT-1 serves as a tumor suppressor and maintains Golgi dynamics and centrosome integrity for cell survival. Mol Cell Biol 2007; 27: 4905-16.
    • (2007) Mol Cell Biol , vol.27 , pp. 4905-4916
    • Lin, X.1    Liu, C.C.2    Gao, Q.3    Zhang, X.4    Wu, G.5    Lee, W.H.6
  • 23
    • 34948888155 scopus 로고    scopus 로고
    • Rab6 regulates both ZW10/RINT-1 and conserved oligomeric Golgi complex-dependent Golgi trafficking and homeostasis
    • Sun Y, Shestakova A, Hunt L, Sehgal S, Lupashin V, Storrie B. Rab6 regulates both ZW10/RINT-1 and conserved oligomeric Golgi complex-dependent Golgi trafficking and homeostasis. Mol Biol Cell 2007; 18: 4129-42.
    • (2007) Mol Biol Cell , vol.18 , pp. 4129-4142
    • Sun, Y.1    Shestakova, A.2    Hunt, L.3    Sehgal, S.4    Lupashin, V.5    Storrie, B.6
  • 24
    • 84869112077 scopus 로고    scopus 로고
    • The Drosophila RZZ complex-roles in membrane trafficking and cytokinesis
    • Wainman A, Giansanti MG, Goldberg ML, Gatti M. The Drosophila RZZ complex-roles in membrane trafficking and cytokinesis. J Cell Sci 2012; 125: 4014-25.
    • (2012) J Cell Sci , vol.125 , pp. 4014-4025
    • Wainman, A.1    Giansanti, M.G.2    Goldberg, M.L.3    Gatti, M.4
  • 25
    • 77952554428 scopus 로고    scopus 로고
    • Dsl1p/Zw10: Common mechanisms behind tethering vesicles and microtubules
    • Schmitt HD. Dsl1p/Zw10: common mechanisms behind tethering vesicles and microtubules. Trends Cell Biol 2010; 20: 257-68.
    • (2010) Trends Cell Biol , vol.20 , pp. 257-268
    • Schmitt, H.D.1
  • 26
    • 77952613898 scopus 로고    scopus 로고
    • Structural analysis of the RZZ complex reveals common ancestry with multisubunit vesicle tethering machinery
    • Civril F, Wehenkel A, Giorgi FM, Santaguida S, Di Fonzo A, Grigorean G, et al. Structural analysis of the RZZ complex reveals common ancestry with multisubunit vesicle tethering machinery. Structure 2010; 18: 616-26.
    • (2010) Structure , vol.18 , pp. 616-626
    • Civril, F.1    Wehenkel, A.2    Giorgi, F.M.3    Santaguida, S.4    Di Fonzo, A.5    Grigorean, G.6
  • 27
    • 7044272596 scopus 로고    scopus 로고
    • The Breast Cancer Family Registry: An infrastructure for cooperative multinational, interdisciplinary and translational studies of the genetic epidemiology of breast cancer
    • John EM, Hopper JL, Beck JC, Knight JA, Neuhausen SL, Senie RT, et al. The Breast Cancer Family Registry: an infrastructure for cooperative multinational, interdisciplinary and translational studies of the genetic epidemiology of breast cancer. Breast Cancer Res es 2004; 6: R375-89.
    • (2004) Breast Cancer Res es , vol.6
    • John, E.M.1    Hopper, J.L.2    Beck, J.C.3    Knight, J.A.4    Neuhausen, S.L.5    Senie, R.T.6
  • 28
    • 33644949696 scopus 로고    scopus 로고
    • Analysis of cancer risk and BRCA1 and BRCA2 mutation prevalence in the kConFab familial breast cancer resource
    • Mann GJ, Thorne H, Balleine RL, Butow PN, Clarke CL, Edkins E, et al. Analysis of cancer risk and BRCA1 and BRCA2 mutation prevalence in the kConFab familial breast cancer resource. Breast Cancer Res 2006; 8: R12.
    • (2006) Breast Cancer Res , vol.8
    • Mann, G.J.1    Thorne, H.2    Balleine, R.L.3    Butow, P.N.4    Clarke, C.L.5    Edkins, E.6
  • 31
    • 84860389647 scopus 로고    scopus 로고
    • Rare, evolutionarily unlikely missense substitutions in CHEK2 contribute to breast cancer susceptibility: Results from a breast cancer family registry case-control mutation-screening study
    • Le Calvez-Kelm F, Lesueur F, Damiola F, Vallee M, Voegele C, Babikyan D, et al. Rare, evolutionarily unlikely missense substitutions in CHEK2 contribute to breast cancer susceptibility: results from a breast cancer family registry case-control mutation-screening study. Breast Cancer Res 2011; 13: R6.
    • (2011) Breast Cancer Res , vol.13
    • Le Calvez-Kelm, F.1    Lesueur, F.2    Damiola, F.3    Vallee, M.4    Voegele, C.5    Babikyan, D.6
  • 32
    • 84871644687 scopus 로고    scopus 로고
    • RAD51 and breast cancer susceptibility: No evidence for rare variant association in the breast cancer family registry study
    • Le Calvez-Kelm F, Oliver J, Damiola F, Forey N, Robinot N, Durand G, et al. RAD51 and breast cancer susceptibility: no evidence for rare variant association in the breast cancer family registry study. PLoS ONE 2012; 7: e52374.
    • (2012) PLoS ONE , vol.7
    • Le Calvez-Kelm, F.1    Oliver, J.2    Damiola, F.3    Forey, N.4    Robinot, N.5    Durand, G.6
  • 33
    • 67649884743 scopus 로고    scopus 로고
    • Fast and accurate short read alignment with Burrows-Wheeler transform
    • Li H, Durbin R. Fast and accurate short read alignment with Burrows-Wheeler transform. Bioinformatics 2009; 25: 1754-60.
    • (2009) Bioinformatics , vol.25 , pp. 1754-1760
    • Li, H.1    Durbin, R.2
  • 34
    • 77951770756 scopus 로고    scopus 로고
    • BEDTools: A flexible suite of utilities for comparing genomic features
    • Quinlan AR, Hall IM. BEDTools: a flexible suite of utilities for comparing genomic features. Bioinformatics 2010; 26: 841-2.
    • (2010) Bioinformatics , vol.26 , pp. 841-842
    • Quinlan, A.R.1    Hall, I.M.2
  • 35
    • 84874147303 scopus 로고    scopus 로고
    • FAVR (Filtering and Annotation of Variants that are Rare): Methods to facilitate the analysis of rare germline genetic variants from massively parallel sequencing datasets
    • Pope BJ, Nguyen-Dumont T, Odefrey F, Hammet F, Bell R, Tao K, et al. FAVR (Filtering and Annotation of Variants that are Rare): methods to facilitate the analysis of rare germline genetic variants from massively parallel sequencing datasets. BMC Bioinformatics 2013; 14: 65.
    • (2013) BMC Bioinformatics , vol.14 , pp. 65
    • Pope, B.J.1    Nguyen-Dumont, T.2    Odefrey, F.3    Hammet, F.4    Bell, R.5    Tao, K.6
  • 36
    • 77956534324 scopus 로고    scopus 로고
    • ANNOVAR: Functional annotation of genetic variants from high-throughput sequencing data
    • Wang K, Li M, Hakonarson H. ANNOVAR: functional annotation of genetic variants from high-throughput sequencing data. Nucleic Acids Res 2010: 38: e164.
    • (2010) Nucleic Acids Res , vol.38
    • Wang, K.1    Li, M.2    Hakonarson, H.3
  • 37
    • 34548804946 scopus 로고    scopus 로고
    • A Laboratory Information Management System (LIMS) for a high throughput genetic platform aimed at candidate gene mutation screening
    • Voegele C, Tavtigian SV, de Silva D, Cuber S, Thomas A, Le Calvez-Kelm F. A Laboratory Information Management System (LIMS) for a high throughput genetic platform aimed at candidate gene mutation screening. Bioinformatics 2007; 23: 2504-6.
    • (2007) Bioinformatics , vol.23 , pp. 2504-2506
    • Voegele, C.1    Tavtigian, S.V.2    de Silva, D.3    Cuber, S.4    Thomas, A.5    Le Calvez-Kelm, F.6
  • 38
    • 66349124998 scopus 로고    scopus 로고
    • Description and validation of high-throughput simultaneous genotyping and mutation scanning by high-resolution melting curve analysis
    • Nguyen-Dumont T, Calvez-Kelm FL, Forey N, McKay-Chopin S, Garritano S, Gioia-Patricola L, et al. Description and validation of high-throughput simultaneous genotyping and mutation scanning by high-resolution melting curve analysis. Hum Mutat 2009; 30: 884-90.
    • (2009) Hum Mutat , vol.30 , pp. 884-890
    • Nguyen-Dumont, T.1    Calvez-Kelm, F.L.2    Forey, N.3    McKay-Chopin, S.4    Garritano, S.5    Gioia-Patricola, L.6
  • 39
    • 61849100599 scopus 로고    scopus 로고
    • Determining the effectiveness of high resolution melting analysis for SNP genotyping and mutation scanning at the TP53 locus
    • Garritano S, Gemignani F, Voegele C, Nguyen-Dumont T, Le Calvez-Kelm F, De Silva D, et al. Determining the effectiveness of high resolution melting analysis for SNP genotyping and mutation scanning at the TP53 locus. BMC Genet 2009; 10: 5.
    • (2009) BMC Genet , vol.10 , pp. 5
    • Garritano, S.1    Gemignani, F.2    Voegele, C.3    Nguyen-Dumont, T.4    Le Calvez-Kelm, F.5    De Silva, D.6
  • 40
    • 0000122573 scopus 로고
    • PHYLIP-Phylogeny Inference Package (version 3.2)
    • Felsenstein J. PHYLIP-Phylogeny Inference Package (version 3.2). Cladistics 1989; 5: 164-6.
    • (1989) Cladistics , vol.5 , pp. 164-166
    • Felsenstein, J.1
  • 41
    • 2442441507 scopus 로고    scopus 로고
    • Maximum entropy modeling of short sequence motifs with applications to RNA splicing signals
    • Yeo G, Burge CB. Maximum entropy modeling of short sequence motifs with applications to RNA splicing signals. J Comput Biol 2004; 11: 377-94.
    • (2004) J Comput Biol , vol.11 , pp. 377-394
    • Yeo, G.1    Burge, C.B.2
  • 42
    • 55549147204 scopus 로고    scopus 로고
    • Classification of rare missense substitutions, using risk surfaces, with genetic-and molecular-epidemiology applications
    • Tavtigian SV, Byrnes GB, Goldgar DE, Thomas A. Classification of rare missense substitutions, using risk surfaces, with genetic-and molecular-epidemiology applications. Hum Mutat 2008; 29: 1342-54.
    • (2008) Hum Mutat , vol.29 , pp. 1342-1354
    • Tavtigian, S.V.1    Byrnes, G.B.2    Goldgar, D.E.3    Thomas, A.4
  • 43
    • 35348834779 scopus 로고    scopus 로고
    • A systematic genetic assessment of 1,433 sequence variants of unknown clinical significance in the BRCA1 and BRCA2 breast cancer-predisposition genes
    • Easton DF, Deffenbaugh AM, Pruss D, Frye C, Wenstrup RJ, Allen-Brady K, et al. A systematic genetic assessment of 1,433 sequence variants of unknown clinical significance in the BRCA1 and BRCA2 breast cancer-predisposition genes. Am J Hum Genet 2007; 81: 873-83.
    • (2007) Am J Hum Genet , vol.81 , pp. 873-883
    • Easton, D.F.1    Deffenbaugh, A.M.2    Pruss, D.3    Frye, C.4    Wenstrup, R.J.5    Allen-Brady, K.6
  • 44
    • 0038723180 scopus 로고    scopus 로고
    • A specific GFP expression assay, penetrance estimate, and histological assessment for a putative splice site mutation in BRCA1
    • Southey MC, Tesoriero A, Young MA, Holloway AJ, Jenkins MA, Whitty J, et al. A specific GFP expression assay, penetrance estimate, and histological assessment for a putative splice site mutation in BRCA1. Hum Mutat 2003; 22: 86-91.
    • (2003) Hum Mutat , vol.22 , pp. 86-91
    • Southey, M.C.1    Tesoriero, A.2    Young, M.A.3    Holloway, A.J.4    Jenkins, M.A.5    Whitty, J.6
  • 48
    • 0024190141 scopus 로고
    • Programs for pedigree analysis: MENDEL, FISHER, and dGENE
    • Lange K, Weeks D, Boehnke M. Programs for pedigree analysis: MENDEL, FISHER, and dGENE. Genet Epidemiol 1988; 5: 471-2.
    • (1988) Genet Epidemiol , vol.5 , pp. 471-472
    • Lange, K.1    Weeks, D.2    Boehnke, M.3


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