메뉴 건너뛰기




Volumn 8, Issue 8, 2013, Pages

Prevalence of PALB2 Mutations in Breast Cancer Patients in Multi-Ethnic Asian Population in Malaysia and Singapore

Author keywords

[No Author keywords available]

Indexed keywords

BRCA1 PROTEIN; BRCA2 PROTEIN; DNA; NUCLEAR PROTEIN; PALB2 PROTEIN, HUMAN; TUMOR SUPPRESSOR PROTEIN;

EID: 84882575643     PISSN: None     EISSN: 19326203     Source Type: Journal    
DOI: 10.1371/journal.pone.0073638     Document Type: Article
Times cited : (25)

References (27)
  • 1
    • 33745200945 scopus 로고    scopus 로고
    • Control of BRCA2 cellular and clinical functions by a nuclear partner, PALB2
    • doi: 10.1016/j.molcel.2006.05.022
    • Xia B, Sheng Q, Nakanishi K, Ohashi A, Wu J, et al. (2006) Control of BRCA2 cellular and clinical functions by a nuclear partner, PALB2. Mol Cell 22: 719-729. doi:10.1016/j.molcel.2006.05.022. PubMed: 16793542.
    • (2006) Mol Cell , vol.22 , pp. 719-729
    • Xia, B.1    Sheng, Q.2    Nakanishi, K.3    Ohashi, A.4    Wu, J.5
  • 2
    • 33846569450 scopus 로고    scopus 로고
    • Biallelic mutations in PALB2 cause Fanconi anemia subtype FA-N and predispose to childhood cancer
    • doi: 10.1038/ng1947
    • Reid S, Schindler D, Hanenberg H, Barker K, Hanks S, et al. (2007) Biallelic mutations in PALB2 cause Fanconi anemia subtype FA-N and predispose to childhood cancer. Nat Genet 39: 162-164. doi:10.1038/ng1947. PubMed: 17200671.
    • (2007) Nat Genet , vol.39 , pp. 162-164
    • Reid, S.1    Schindler, D.2    Hanenberg, H.3    Barker, K.4    Hanks, S.5
  • 3
    • 33846625493 scopus 로고    scopus 로고
    • PALB2, which encodes a BRCA2-interacting protein, is a breast cancer susceptibility gene
    • doi: 10.1038/ng1959
    • Rahman N, Seal S, Thompson D, Kelly P, Renwick A, et al. (2007) PALB2, which encodes a BRCA2-interacting protein, is a breast cancer susceptibility gene. Nat Genet 39: 165-167. doi:10.1038/ng1959. PubMed: 17200668.
    • (2007) Nat Genet , vol.39 , pp. 165-167
    • Rahman, N.1    Seal, S.2    Thompson, D.3    Kelly, P.4    Renwick, A.5
  • 4
    • 33847227378 scopus 로고    scopus 로고
    • A recurrent mutation in PALB2 in Finnish cancer families
    • doi: 10.1038/nature05609
    • Erkko H, Xia B, Nikkilä J, Schleutker J, Syrjäkoski K, et al. (2007) A recurrent mutation in PALB2 in Finnish cancer families. Nature 446: 316-319. doi:10.1038/nature05609. PubMed: 17287723.
    • (2007) Nature , vol.446 , pp. 316-319
    • Erkko, H.1    Xia, B.2    Nikkilä, J.3    Schleutker, J.4    Syrjäkoski, K.5
  • 5
    • 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
    • doi: 10.1186/bcr1828
    • Foulkes WD, Ghadirian P, Akbari MR, Hamel N, Giroux S, et al. (2007) Identification of a novel truncating PALB2 mutation and analysis of its contribution to early-onset breast cancer in French-Canadian women. Breast Cancer Res 9: R83. doi:10.1186/bcr1828. PubMed: 18053174.
    • (2007) Breast Cancer Res , vol.9
    • Foulkes, W.D.1    Ghadirian, P.2    Akbari, M.R.3    Hamel, N.4    Giroux, S.5
  • 6
    • 78650389153 scopus 로고    scopus 로고
    • A PALB2 mutation associated with high risk of breast cancer
    • doi: 10.1186/bcr2796
    • Southey MC, Teo ZL, Dowty JG, Odefrey FA, Park DJ, et al. (2010) A PALB2 mutation associated with high risk of breast cancer. Breast Cancer Res 12: R109. doi:10.1186/bcr2796. PubMed: 21182766.
    • (2010) Breast Cancer Res , vol.12
    • Southey, M.C.1    Teo, Z.L.2    Dowty, J.G.3    Odefrey, F.A.4    Park, D.J.5
  • 7
    • 77953614341 scopus 로고    scopus 로고
    • Discovering moderate-risk breast cancer susceptibility genes
    • doi: 10.1016/j.gde.2010.02.009
    • Hollestelle A, Wasielewski M, Martens JW, Schutte M, (2010) Discovering moderate-risk breast cancer susceptibility genes. Curr Opin Genet Dev 20: 268-276. doi:10.1016/j.gde.2010.02.009. PubMed: 20346647.
    • (2010) Curr Opin Genet Dev , vol.20 , pp. 268-276
    • Hollestelle, A.1    Wasielewski, M.2    Martens, J.W.3    Schutte, M.4
  • 8
    • 51649092869 scopus 로고    scopus 로고
    • Penetrance analysis of the PALB2 c.1592delT founder mutation
    • doi: 10.1158/1078-0432.CCR-08-0210
    • Erkko H, Dowty JG, Nikkilä J, Syrjäkoski K, Mannermaa A, et al. (2008) Penetrance analysis of the PALB2 c.1592delT founder mutation. Clin Cancer Res 14: 4667-4671. doi:10.1158/1078-0432.CCR-08-0210. PubMed: 18628482.
    • (2008) Clin Cancer Res , vol.14 , pp. 4667-4671
    • Erkko, H.1    Dowty, J.G.2    Nikkilä, J.3    Syrjäkoski, K.4    Mannermaa, A.5
  • 9
    • 79958123341 scopus 로고    scopus 로고
    • PALB2 mutations in familial breast and pancreatic cancer
    • doi: 10.1007/s10689-011-9426-1
    • Hofstatter EW, Domchek SM, Miron A, Garber J, Wang M, et al. (2011) PALB2 mutations in familial breast and pancreatic cancer. Fam Cancer 10: 225-231. doi:10.1007/s10689-011-9426-1. PubMed: 21365267.
    • (2011) Fam Cancer , vol.10 , pp. 225-231
    • Hofstatter, E.W.1    Domchek, S.M.2    Miron, A.3    Garber, J.4    Wang, M.5
  • 10
    • 77957333720 scopus 로고    scopus 로고
    • PALB2 mutations in European familial pancreatic cancer families
    • doi: 10.1111/j.1399-0004.2010.01425.x
    • Slater EP, Langer P, Niemczyk E, Strauch K, Butler J, et al. (2010) PALB2 mutations in European familial pancreatic cancer families. Clin Genet 78: 490-494. doi:10.1111/j.1399-0004.2010.01425.x. PubMed: 20412113.
    • (2010) Clin Genet , vol.78 , pp. 490-494
    • Slater, E.P.1    Langer, P.2    Niemczyk, E.3    Strauch, K.4    Butler, J.5
  • 11
    • 84862262488 scopus 로고    scopus 로고
    • Rare occurrence of PALB2 mutations in ovarian cancer patients from the Volga-Ural region
    • doi: 10.1111/j.1399-0004.2011.01824.x
    • Prokofyeva D, Bogdanova N, Bermisheva M, Zinnatullina G, Hillemanns P, et al. (2012) Rare occurrence of PALB2 mutations in ovarian cancer patients from the Volga-Ural region. Clin Genet 82: 100-101. doi:10.1111/j.1399-0004.2011.01824.x. PubMed: 22310028.
    • (2012) Clin Genet , vol.82 , pp. 100-101
    • Prokofyeva, D.1    Bogdanova, N.2    Bermisheva, M.3    Zinnatullina, G.4    Hillemanns, P.5
  • 12
    • 77649148280 scopus 로고    scopus 로고
    • A novel germline PALB2 deletion in Polish breast and ovarian cancer patients
    • doi: 10.1186/1471-2156-11-20
    • Dansonka-Mieszkowska A, Kluska A, Moes J, Dabrowska M, Nowakowska D, et al. (2010) A novel germline PALB2 deletion in Polish breast and ovarian cancer patients. BMC Med Genet 11: 20. doi:10.1186/1471-2156-11-20. PubMed: 20122277.
    • (2010) BMC Med Genet , vol.11 , pp. 20
    • Dansonka-Mieszkowska, A.1    Kluska, A.2    Moes, J.3    Dabrowska, M.4    Nowakowska, D.5
  • 13
    • 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
    • doi: 10.1007/s10549-008-0036-z
    • Cao AY, Huang J, Hu Z, Li WF, Ma ZL, et al. (2009) The prevalence of PALB2 germline mutations in BRCA1/BRCA2 negative Chinese women with early onset breast cancer or affected relatives. Breast Cancer Res Treat 114: 457-462. doi:10.1007/s10549-008-0036-z. PubMed: 18446436.
    • (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
  • 14
    • 84857368978 scopus 로고    scopus 로고
    • Novel germline PALB2 truncating mutations in African American breast cancer patients
    • doi: 10.1002/cncr.26388
    • Zheng Y, Zhang J, Niu Q, Huo D, Olopade OI, (2012) Novel germline PALB2 truncating mutations in African American breast cancer patients. Cancer 118: 1362-1370. doi:10.1002/cncr.26388. PubMed: 21932393.
    • (2012) Cancer , vol.118 , pp. 1362-1370
    • Zheng, Y.1    Zhang, J.2    Niu, Q.3    Huo, D.4    Olopade, O.I.5
  • 15
    • 65849293656 scopus 로고    scopus 로고
    • Evaluation of BRCA1 and BRCA2 mutations and risk-prediction models in a typical Asian country (Malaysia) with a relatively low incidence of breast cancer
    • doi: 10.1186/bcr1943
    • Thirthagiri E, Lee SY, Kang P, Lee DS, Toh GT, et al. (2008) Evaluation of BRCA1 and BRCA2 mutations and risk-prediction models in a typical Asian country (Malaysia) with a relatively low incidence of breast cancer. Breast Cancer Res 10: R59. doi:10.1186/bcr1943. PubMed: 18627636.
    • (2008) Breast Cancer Res , vol.10
    • Thirthagiri, E.1    Lee, S.Y.2    Kang, P.3    Lee, D.S.4    Toh, G.T.5
  • 16
    • 44349190246 scopus 로고    scopus 로고
    • BRCA1 and BRCA2 germline mutations in Malaysian women with early-onset breast cancer without a family history
    • doi: 10.1371/journal.pone.0002024
    • Toh GT, Kang P, Lee SS, Lee DS, Lee SY, et al. (2008) BRCA1 and BRCA2 germline mutations in Malaysian women with early-onset breast cancer without a family history. PLOS ONE 3: e2024. doi:10.1371/journal.pone.0002024. PubMed: 18431501.
    • (2008) PLOS ONE , vol.3
    • Toh, G.T.1    Kang, P.2    Lee, S.S.3    Lee, D.S.4    Lee, S.Y.5
  • 17
    • 34249857115 scopus 로고    scopus 로고
    • Analysis of PALB2/FANCN-associated breast cancer families
    • doi: 10.1073/pnas.0701724104
    • Tischkowitz M, Xia B, Sabbaghian N, Reis-Filho JS, Hamel N, et al. (2007) Analysis of PALB2/FANCN-associated breast cancer families. Proc Natl Acad Sci U S A 104: 6788-6793. doi:10.1073/pnas.0701724104. PubMed: 17420451.
    • (2007) Proc Natl Acad Sci U S A , vol.104 , pp. 6788-6793
    • Tischkowitz, M.1    Xia, B.2    Sabbaghian, N.3    Reis-Filho, J.S.4    Hamel, N.5
  • 18
    • 77951640946 scopus 로고    scopus 로고
    • A method and server for predicting damaging missense mutations
    • doi: 10.1038/nmeth0410-248
    • Adzhubei IA, Schmidt S, Peshkin L, Ramensky VE, Gerasimova A, et al. (2010) A method and server for predicting damaging missense mutations. Nat Methods 7: 248-249. doi:10.1038/nmeth0410-248. PubMed: 20354512.
    • (2010) Nat Methods , vol.7 , pp. 248-249
    • Adzhubei, I.A.1    Schmidt, S.2    Peshkin, L.3    Ramensky, V.E.4    Gerasimova, A.5
  • 19
    • 68149165614 scopus 로고    scopus 로고
    • Predicting the effects of coding non-synonymous variants on protein function using the SIFT algorithm
    • doi: 10.1038/nprot.2009.86
    • Kumar P, Henikoff S, Ng PC, (2009) Predicting the effects of coding non-synonymous variants on protein function using the SIFT algorithm. Nat Protoc 4: 1073-1081. doi:10.1038/nprot.2009.86. PubMed: 19561590.
    • (2009) Nat Protoc , vol.4 , pp. 1073-1081
    • Kumar, P.1    Henikoff, S.2    Ng, P.C.3
  • 20
    • 0043122919 scopus 로고    scopus 로고
    • SIFT: Predicting amino acid changes that affect protein function
    • doi: 10.1093/nar/gkg509
    • Ng PC, Henikoff S, (2003) SIFT: Predicting amino acid changes that affect protein function. Nucleic Acids Res 31: 3812-3814. doi:10.1093/nar/gkg509. PubMed: 12824425.
    • (2003) Nucleic Acids Res , vol.31 , pp. 3812-3814
    • Ng, P.C.1    Henikoff, S.2
  • 21
    • 84857918420 scopus 로고    scopus 로고
    • Detection of a large rearrangement in PALB2 in Spanish breast cancer families with male breast cancer
    • doi: 10.1007/s10549-011-1842-2
    • Blanco A, de la Hoya M, Balmaña J, Ramón y Cajal T, Teulé A, et al. (2012) Detection of a large rearrangement in PALB2 in Spanish breast cancer families with male breast cancer. Breast Cancer Res Treat 132: 307-315. doi:10.1007/s10549-011-1842-2. PubMed: 22052327.
    • (2012) Breast Cancer Res Treat , vol.132 , pp. 307-315
    • Blanco, A.1    de la Hoya, M.2    Balmaña, J.3    Ramón y Cajal, T.4    Teulé, A.5
  • 22
    • 33846601829 scopus 로고    scopus 로고
    • Fanconi anemia is associated with a defect in the BRCA2 partner PALB2
    • doi: 10.1038/ng1942
    • Xia B, Dorsman JC, Ameziane N, de Vries Y, Rooimans MA, et al. (2007) Fanconi anemia is associated with a defect in the BRCA2 partner PALB2. Nat Genet 39: 159-161. doi:10.1038/ng1942. PubMed: 17200672.
    • (2007) Nat Genet , vol.39 , pp. 159-161
    • Xia, B.1    Dorsman, J.C.2    Ameziane, N.3    de Vries, Y.4    Rooimans, M.A.5
  • 23
    • 70449523582 scopus 로고    scopus 로고
    • PALB2 sequence variants in young South African breast cancer patients
    • doi: 10.1007/s10689-009-9241-0
    • Sluiter M, Mew S, van Rensburg EJ, (2009) PALB2 sequence variants in young South African breast cancer patients. Fam Cancer 8: 347-353. doi:10.1007/s10689-009-9241-0. PubMed: 19333784.
    • (2009) Fam Cancer , vol.8 , pp. 347-353
    • Sluiter, M.1    Mew, S.2    van Rensburg, E.J.3
  • 24
    • 58549086980 scopus 로고    scopus 로고
    • Analysis of FANCB and FANCN/PALB2 fanconi anemia genes in BRCA1/2-negative Spanish breast cancer families
    • doi: 10.1007/s10549-008-9945-0
    • García MJ, Fernández V, Osorio A, Barroso A, Llort G, et al. (2009) Analysis of FANCB and FANCN/PALB2 fanconi anemia genes in BRCA1/2-negative Spanish breast cancer families. Breast Cancer Res Treat 113: 545-551. doi:10.1007/s10549-008-9945-0. PubMed: 18302019.
    • (2009) Breast Cancer Res Treat , vol.113 , pp. 545-551
    • García, M.J.1    Fernández, V.2    Osorio, A.3    Barroso, A.4    Llort, G.5
  • 25
    • 79151476244 scopus 로고    scopus 로고
    • Germline mutations in PALB2 in African-American breast cancer cases
    • doi: 10.1007/s10549-010-1271-7
    • Ding YC, Steele L, Chu LH, Kelley K, Davis H, et al. (2011) Germline mutations in PALB2 in African-American breast cancer cases. Breast Cancer Res Treat 126: 227-230. doi:10.1007/s10549-010-1271-7. PubMed: 21113654.
    • (2011) Breast Cancer Res Treat , vol.126 , pp. 227-230
    • Ding, Y.C.1    Steele, L.2    Chu, L.H.3    Kelley, K.4    Davis, H.5
  • 26
    • 84875982465 scopus 로고    scopus 로고
    • Genome-wide testing of putative functional exonic variants in relationship with breast and prostate cancer risk in a multiethnic population
    • Haiman CA, Han Y, Feng Y, Xia L, Hsu C, et al. (2013) Genome-wide testing of putative functional exonic variants in relationship with breast and prostate cancer risk in a multiethnic population. PLOS Genet 9: e1003419.
    • (2013) PLOS Genet , vol.9
    • Haiman, C.A.1    Han, Y.2    Feng, Y.3    Xia, L.4    Hsu, C.5
  • 27
    • 0035864827 scopus 로고    scopus 로고
    • Functional analysis of BRCA1 C-terminal missense mutations identified in breast and ovarian cancer families
    • doi: 10.1093/hmg/10.4.353
    • Vallon-Christersson J, Cayanan C, Haraldsson K, Loman N, Bergthorsson JT, et al. (2001) Functional analysis of BRCA1 C-terminal missense mutations identified in breast and ovarian cancer families. Hum Mol Genet 10: 353-360. doi:10.1093/hmg/10.4.353. PubMed: 11157798.
    • (2001) Hum Mol Genet , vol.10 , pp. 353-360
    • Vallon-Christersson, J.1    Cayanan, C.2    Haraldsson, K.3    Loman, N.4    Bergthorsson, J.T.5


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.