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Volumn 22, Issue 12, 2013, Pages 2323-2332

The PALB2 gene is a strong candidate for clinical testing in BRCA1- and BRCA2-negative hereditary breast cancer

Author keywords

[No Author keywords available]

Indexed keywords

BRCA1 PROTEIN; BRCA2 PROTEIN; PALB2 PROTEIN; UNCLASSIFIED DRUG;

EID: 84890040763     PISSN: 10559965     EISSN: None     Source Type: Journal    
DOI: 10.1158/1055-9965.EPI-13-0745-T     Document Type: Article
Times cited : (45)

References (51)
  • 1
    • 77954654101 scopus 로고    scopus 로고
    • Population-based study of BRCA1/2 mutations: Family history based criteria identify minority of mutation carriers
    • Mateju M, Stribrna J, Zikan M, Kleibl Z, Janatova M, Kormunda S, et al. Population-based study of BRCA1/2 mutations: family history based criteria identify minority of mutation carriers. Neoplasma 2010;57: 280-5.
    • (2010) Neoplasma , vol.57 , pp. 280-285
    • Mateju, M.1    Stribrna, J.2    Zikan, M.3    Kleibl, Z.4    Janatova, M.5    Kormunda, S.6
  • 2
    • 33644877727 scopus 로고    scopus 로고
    • High proportion of recurrent germline mutations in the BRCA1 gene in breast and ovarian cancer patients from the Prague area
    • Pohlreich P, Zikan M, Stribrna J, Kleibl Z, Janatova M, Kotlas J, et al. High proportion of recurrent germline mutations in the BRCA1 gene in breast and ovarian cancer patients from the Prague area. Breast Cancer Res 2005;7:R728-36.
    • (2005) Breast Cancer Res , vol.7
    • Pohlreich, P.1    Zikan, M.2    Stribrna, J.3    Kleibl, Z.4    Janatova, M.5    Kotlas, J.6
  • 3
    • 48849108194 scopus 로고    scopus 로고
    • Contribution of mutations in ATM to breast cancer development in the Czech population
    • Soukupova J, Dundr P, Kleibl Z, Pohlreich P. Contribution of mutations in ATM to breast cancer development in the Czech population. Oncol Rep 2008;19:1505-10.
    • (2008) Oncol Rep , vol.19 , pp. 1505-1510
    • Soukupova, J.1    Dundr, P.2    Kleibl, Z.3    Pohlreich, P.4
  • 4
    • 20244378377 scopus 로고    scopus 로고
    • The CHEK2 c.1100delC germline mutation rarely contributes to breast cancer development in the Czech Republic
    • Kleibl Z, Novotny J, Bezdickova D, Malik R, Kleiblova P, Foretova L, et al. The CHEK2 c.1100delC germline mutation rarely contributes to breast cancer development in the Czech Republic. Breast Cancer Res Treat 2005;90:165-7.
    • (2005) Breast Cancer Res Treat , vol.90 , pp. 165-167
    • Kleibl, Z.1    Novotny, J.2    Bezdickova, D.3    Malik, R.4    Kleiblova, P.5    Foretova, L.6
  • 5
    • 84890098481 scopus 로고    scopus 로고
    • Mutations in CHEK2 and TP53 genes in high-risk hereditary breast and ovarian cancer patients in the Czech Republic
    • Ticha I, Stribrna J, Soukupova J, Pohlreich P. Mutations in CHEK2 and TP53 genes in high-risk hereditary breast and ovarian cancer patients in the Czech Republic. Eur J Cancer Suppl 2011;47(Suppl 1):S132.
    • (2011) Eur J Cancer Suppl , vol.47 , Issue.SUPPL. 1
    • Ticha, I.1    Stribrna, J.2    Soukupova, J.3    Pohlreich, P.4
  • 6
    • 84863716568 scopus 로고    scopus 로고
    • Germline mutations 657del5 and 643C>T (R215W) in NBN are not likely to be associated with increased risk of breast cancer in Czech women
    • Mateju M, Kleiblova P, Kleibl Z, Janatova M, Soukupova J, Ticha I, et al. Germline mutations 657del5 and 643C>T (R215W) in NBN are not likely to be associated with increased risk of breast cancer in Czech women. Breast Cancer Res Treat 2012;133:809-11.
    • (2012) Breast Cancer Res Treat , vol.133 , pp. 809-811
    • Mateju, M.1    Kleiblova, P.2    Kleibl, Z.3    Janatova, M.4    Soukupova, J.5    Ticha, I.6
  • 7
    • 33745200945 scopus 로고    scopus 로고
    • Control of BRCA2 cellular and clinical functions by a nuclear partner, PALB2
    • Xia B, Sheng Q, Nakanishi K, Ohashi A, Wu J, Christ N, et al. Control of BRCA2 cellular and clinical functions by a nuclear partner, PALB2. Mol Cell 2006;22:719-29.
    • (2006) Mol Cell , vol.22 , pp. 719-729
    • Xia, B.1    Sheng, Q.2    Nakanishi, K.3    Ohashi, A.4    Wu, J.5    Christ, N.6
  • 8
    • 66349096607 scopus 로고    scopus 로고
    • PALB2 is an integral component of the BRCA complex required for homologous recombination repair
    • Sy SM, Huen MS, Chen J. PALB2 is an integral component of the BRCA complex required for homologous recombination repair. Proc Natl Acad Sci U S A 2009;106:7155-60.
    • (2009) Proc Natl Acad Sci U S A , vol.106 , pp. 7155-7160
    • Sy, S.M.1    Huen, M.S.2    Chen, J.3
  • 9
    • 67651166786 scopus 로고    scopus 로고
    • PALB2 functionally connects the breast cancer susceptibility proteins BRCA1 and BRCA2
    • Zhang F, Fan Q, Ren K, Andreassen PR. PALB2 functionally connects the breast cancer susceptibility proteins BRCA1 and BRCA2. Mol Cancer Res 2009;7:1110-18.
    • (2009) Mol Cancer Res , vol.7 , pp. 1110-1118
    • Zhang, F.1    Fan, Q.2    Ren, K.3    Andreassen, P.R.4
  • 10
    • 33846569450 scopus 로고    scopus 로고
    • Biallelic mutations in PALB2 cause Fanconi anemia subtype FA-N and predispose to childhood cancer
    • Reid S, Schindler D, Hanenberg H, Barker K, Hanks S, Kalb R, et al. Biallelic mutations in PALB2 cause Fanconi anemia subtype FA-N and predispose to childhood cancer. Nat Genet 2007;39:162-4.
    • (2007) Nat Genet , vol.39 , pp. 162-164
    • Reid, S.1    Schindler, D.2    Hanenberg, H.3    Barker, K.4    Hanks, S.5    Kalb, R.6
  • 11
    • 33846625493 scopus 로고    scopus 로고
    • PALB2, which encodes a BRCA2-interacting protein, is a breast cancer susceptibility gene
    • Rahman N, Seal S, Thompson D, Kelly P, Renwick A, Elliott A, et al. PALB2, which encodes a BRCA2-interacting protein, is a breast cancer susceptibility gene. Nat Genet 2007;39:165-7.
    • (2007) Nat Genet , vol.39 , pp. 165-167
    • Rahman, N.1    Seal, S.2    Thompson, D.3    Kelly, P.4    Renwick, A.5    Elliott, A.6
  • 13
    • 79957608461 scopus 로고    scopus 로고
    • Germline mutations in the PALB2 gene are population specific and occur with low frequencies in familial breast cancer
    • Hellebrand H, Sutter C, Honisch E, Gross E, Wappenschmidt B, Schem C, et al. Germline mutations in the PALB2 gene are population specific and occur with low frequencies in familial breast cancer. Hum Mutat 2011;32:E2176-88.
    • (2011) Hum Mutat , vol.32
    • Hellebrand, H.1    Sutter, C.2    Honisch, E.3    Gross, E.4    Wappenschmidt, B.5    Schem, C.6
  • 14
    • 79958709462 scopus 로고    scopus 로고
    • PALB2 germline mutations in familial breast cancer cases with personal and family history of pancreatic cancer
    • Peterlongo P, Catucci I, Pasquini G, Verderio P, Peissel B, Barile M, et al. PALB2 germline mutations in familial breast cancer cases with personal and family history of pancreatic cancer. Breast Cancer Res Treat 2011;126:825-8.
    • (2011) Breast Cancer Res Treat , vol.126 , pp. 825-828
    • Peterlongo, P.1    Catucci, I.2    Pasquini, G.3    Verderio, P.4    Peissel, B.5    Barile, M.6
  • 15
    • 79952741549 scopus 로고    scopus 로고
    • Contribution of inherited mutations in the BRCA2-interacting protein PALB2 to familial breast cancer
    • Casadei S, Norquist BM, Walsh T, Stray S, Mandell JB, Lee MK, et al. Contribution of inherited mutations in the BRCA2-interacting protein PALB2 to familial breast cancer. Cancer Res 2011;71:2222-9.
    • (2011) Cancer Res , vol.71 , pp. 2222-2229
    • Casadei, S.1    Norquist, B.M.2    Walsh, T.3    Stray, S.4    Mandell, J.B.5    Lee, M.K.6
  • 20
    • 70449523582 scopus 로고    scopus 로고
    • PALB2 sequence variants in young South African breast cancer patients
    • Sluiter M, Mew S, van Rensburg EJ. PALB2 sequence variants in young South African breast cancer patients. Fam Cancer 2009;8:347-53.
    • (2009) Fam Cancer , vol.8 , pp. 347-353
    • Sluiter, M.1    Mew, S.2    Van Rensburg, E.J.3
  • 21
    • 61449204036 scopus 로고    scopus 로고
    • The prevalence of PALB2 germline mutations in BRCA1/BRCA2 negative Chinese women with early onset breast cancer or affected relatives
    • Cao AY, Huang J, Hu Z, Li WF, Ma ZL, Tang LL, et al. The prevalence of PALB2 germline mutations in BRCA1/BRCA2 negative Chinese women with early onset breast cancer or affected relatives. Breast Cancer Res Treat 2009;114:457-62.
    • (2009) Breast Cancer Res Treat , vol.114 , pp. 457-462
    • Cao, A.Y.1    Huang, J.2    Hu, Z.3    Li, W.F.4    Ma, Z.L.5    Tang, L.L.6
  • 22
    • 84857368978 scopus 로고    scopus 로고
    • Novel germline PALB2 truncating mutations in African American breast cancer patients
    • Zheng Y, Zhang J, Niu Q, Huo D, Olopade OI. Novel germline PALB2 truncating mutations in African American breast cancer patients. Cancer 2012;118:1362-70.
    • (2012) Cancer , vol.118 , pp. 1362-1370
    • Zheng, Y.1    Zhang, J.2    Niu, Q.3    Huo, D.4    Olopade, O.I.5
  • 23
    • 58549086980 scopus 로고    scopus 로고
    • Analysis of FANCB and FANCN/PALB2 Fanconi anemia genes in BRCA1/2-negative Spanish breast cancer families
    • Garcia MJ, Fernandez V, Osorio A, Barroso A, Llort G, Lazaro C, et al. Analysis of FANCB and FANCN/PALB2 Fanconi anemia genes in BRCA1/2-negative Spanish breast cancer families. Breast Cancer Res Treat 2009;113:545-51.
    • (2009) Breast Cancer Res Treat , vol.113 , pp. 545-551
    • Garcia, M.J.1    Fernandez, V.2    Osorio, A.3    Barroso, A.4    Llort, G.5    Lazaro, C.6
  • 25
    • 84862776557 scopus 로고    scopus 로고
    • Rare germline mutations in PALB2 and breast cancer risk: A population-based study
    • Tischkowitz M, Capanu M, Sabbaghian N, Li L, Liang X, Vallee MP, et al. Rare germline mutations in PALB2 and breast cancer risk: a population-based study. Hum Mutat 2012;33:674-80.
    • (2012) Hum Mutat , vol.33 , pp. 674-680
    • Tischkowitz, M.1    Capanu, M.2    Sabbaghian, N.3    Li, L.4    Liang, X.5    Vallee, M.P.6
  • 27
    • 40349111045 scopus 로고    scopus 로고
    • Identification of a novel truncating PALB2 mutation and analysis of its contribution to early-onset breast cancer in French-Canadian women
    • Foulkes WD, Ghadirian P, Akbari MR, Hamel N, Giroux S, Sabbaghian N, et al. Identification of a novel truncating PALB2 mutation and analysis of its contribution to early-onset breast cancer in French-Canadian women. Breast Cancer Res 2007;9:R83.
    • (2007) Breast Cancer Res , vol.9
    • Foulkes, W.D.1    Ghadirian, P.2    Akbari, M.R.3    Hamel, N.4    Giroux, S.5    Sabbaghian, N.6
  • 33
    • 64849092309 scopus 로고    scopus 로고
    • Exomic sequencing identifies PALB2 as a pancreatic cancer susceptibility gene
    • Jones S, Hruban RH, Kamiyama M, Borges M, Zhang X, Parsons DW, et al. Exomic sequencing identifies PALB2 as a pancreatic cancer susceptibility gene. Science 2009;324:217.
    • (2009) Science , vol.324 , pp. 217
    • Jones, S.1    Hruban, R.H.2    Kamiyama, M.3    Borges, M.4    Zhang, X.5    Parsons, D.W.6
  • 35
    • 69349092943 scopus 로고    scopus 로고
    • Analysis of the gene coding for the BRCA2-interacting protein PALB2 in familial and sporadic pancreatic cancer
    • Tischkowitz MD, Sabbaghian N, Hamel N, Borgida A, Rosner C, Taherian N, et al. Analysis of the gene coding for the BRCA2-interacting protein PALB2 in familial and sporadic pancreatic cancer. Gastroenterology 2009;137:1183-6.
    • (2009) Gastroenterology , vol.137 , pp. 1183-1186
    • Tischkowitz, M.D.1    Sabbaghian, N.2    Hamel, N.3    Borgida, A.4    Rosner, C.5    Taherian, N.6
  • 37
    • 84880638380 scopus 로고    scopus 로고
    • PALB2 and breast cancer: Ready for clinical translation!
    • Southey MC, Teo ZL, Winship I. PALB2 and breast cancer: ready for clinical translation! Appl Clin Genet 2013;6:43-52.
    • (2013) Appl Clin Genet , vol.6 , pp. 43-52
    • Southey, M.C.1    Teo, Z.L.2    Winship, I.3
  • 38
    • 0031917403 scopus 로고    scopus 로고
    • Determining carrier probabilities for breast cancer-susceptibility genes BRCA1 and BRCA2
    • Parmigiani G, Berry D, Aguilar O. Determining carrier probabilities for breast cancer-susceptibility genes BRCA1 and BRCA2. Am J Hum Genet 1998;62:145-158.
    • (1998) Am J Hum Genet , vol.62 , pp. 145-158
    • Parmigiani, G.1    Berry, D.2    Aguilar, O.3
  • 39
    • 60149087376 scopus 로고    scopus 로고
    • The CHEK2 gene I157T mutation and other alterations in its proximity increase the risk of sporadic colorectal cancer in the Czech population
    • Kleibl Z, Havranek O, Hlavata I, Novotny J, Sevcik J, Pohlreich P, et al. The CHEK2 gene I157T mutation and other alterations in its proximity increase the risk of sporadic colorectal cancer in the Czech population. Eur J Cancer 2009;45:618-24.
    • (2009) Eur J Cancer , vol.45 , pp. 618-624
    • Kleibl, Z.1    Havranek, O.2    Hlavata, I.3    Novotny, J.4    Sevcik, J.5    Pohlreich, P.6
  • 41
    • 78649335197 scopus 로고    scopus 로고
    • Screening for genomic rearrangements in BRCA1 and BRCA2 genes in Czech high-risk breast/ovarian cancer patients: High proportion of population specific alterations in BRCA1 gene
    • Ticha I, Kleibl Z, Stribrna J, Kotlas J, Zimovjanova M, Mateju M, et al. Screening for genomic rearrangements in BRCA1 and BRCA2 genes in Czech high-risk breast/ovarian cancer patients: high proportion of population specific alterations in BRCA1 gene. Breast Cancer Res Treat 2010;124:337-47.
    • (2010) Breast Cancer Res Treat , vol.124 , pp. 337-347
    • Ticha, I.1    Kleibl, Z.2    Stribrna, J.3    Kotlas, J.4    Zimovjanova, M.5    Mateju, M.6
  • 42
    • 0033987736 scopus 로고    scopus 로고
    • Mutation nomenclature extensions and suggestions to describe complex mutations: A discussion
    • den Dunnen JT, Antonarakis SE. Mutation nomenclature extensions and suggestions to describe complex mutations: a discussion. Hum Mutat 2000;15:7-12.
    • (2000) Hum Mutat , vol.15 , pp. 7-12
    • Den Dunnen, J.T.1    Antonarakis, S.E.2
  • 44
    • 25444516140 scopus 로고    scopus 로고
    • Novel somatic mutations in the BRCA1 gene in sporadic breast tumors
    • Janatova M, Zikan M, Dundr P, Matous B, Pohlreich P. Novel somatic mutations in the BRCA1 gene in sporadic breast tumors. Hum Mutat 2005;25:319.
    • (2005) Hum Mutat , vol.25 , pp. 319
    • Janatova, M.1    Zikan, M.2    Dundr, P.3    Matous, B.4    Pohlreich, P.5
  • 45
    • 68149165614 scopus 로고    scopus 로고
    • Predicting the effects of coding nonsynonymous variants on protein function using the SIFT algorithm
    • Kumar P, Henikoff S, Ng PC. Predicting the effects of coding nonsynonymous variants on protein function using the SIFT algorithm. Nat Protoc 2009;4:1073-81.
    • (2009) Nat Protoc , vol.4 , pp. 1073-1081
    • Kumar, P.1    Henikoff, S.2    Ng, P.C.3
  • 47
    • 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
  • 48
    • 77955439715 scopus 로고    scopus 로고
    • Detection of inherited mutations for breast and ovarian cancer using genomic capture and massively parallel sequencing
    • Walsh T, Lee MK, Casadei S, Thornton AM, Stray SM, Pennil C, et al. Detection of inherited mutations for breast and ovarian cancer using genomic capture and massively parallel sequencing. Proc Natl Acad Sci U S A 2010;107:12629-33.
    • (2010) Proc Natl Acad Sci U S A , vol.107 , pp. 12629-12633
    • Walsh, T.1    Lee, M.K.2    Casadei, S.3    Thornton, A.M.4    Stray, S.M.5    Pennil, C.6
  • 49
    • 67650566367 scopus 로고    scopus 로고
    • PALB2 regulates recombinational repair through chromatin association and oligomerization
    • Sy SM, Huen MS, Zhu Y, Chen J. PALB2 regulates recombinational repair through chromatin association and oligomerization. J Biol Chem 2009;284:18302-10.
    • (2009) J Biol Chem , vol.284 , pp. 18302-18310
    • Sy, S.M.1    Huen, M.S.2    Zhu, Y.3    Chen, J.4
  • 51
    • 77954579781 scopus 로고    scopus 로고
    • Testing for CHEK2 in the cancer genetics clinic: Ready for prime time?
    • Narod SA. Testing for CHEK2 in the cancer genetics clinic: ready for prime time? Clin Genet 2010;78:1-7.
    • (2010) Clin Genet , vol.78 , pp. 1-7
    • Narod, S.A.1


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