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Volumn 134, Issue 2, 2014, Pages 301-305

Low prevalence of germline PALB2 mutations in Australian triple-negative breast cancer

Author keywords

germline mutations; PALB2; prevalence; triple negative breast cancer

Indexed keywords

BRCA1 PROTEIN; BRCA2 PROTEIN; GENOMIC DNA;

EID: 84887435984     PISSN: 00207136     EISSN: 10970215     Source Type: Journal    
DOI: 10.1002/ijc.28361     Document Type: Article
Times cited : (12)

References (47)
  • 1
    • 48649108724 scopus 로고    scopus 로고
    • The prognostic importance of triple negative breast carcinoma
    • Mersin H, Yildirim E, Berberoglu U, et al. The prognostic importance of triple negative breast carcinoma. Breast 2008; 17: 341-6.
    • (2008) Breast , vol.17 , pp. 341-346
    • Mersin, H.1    Yildirim, E.2    Berberoglu, U.3
  • 4
    • 79952253747 scopus 로고    scopus 로고
    • Incidence and outcome of BRCA mutations in unselected patients with triple receptor-negative breast cancer
    • Gonzalez-Angulo AM, Timms KM, Liu S, et al. Incidence and outcome of BRCA mutations in unselected patients with triple receptor-negative breast cancer. Clin Cancer Res 2011; 17: 1082-9.
    • (2011) Clin Cancer Res , vol.17 , pp. 1082-1089
    • Gonzalez-Angulo, A.M.1    Timms, K.M.2    Liu, S.3
  • 5
    • 84861323251 scopus 로고    scopus 로고
    • Prevalence of BRCA mutations in an unselected population of triple-negative breast cancer
    • Hartman AR, Kaldate RR, Sailer LM, et al. Prevalence of BRCA mutations in an unselected population of triple-negative breast cancer. Cancer 2012; 118: 2787-95.
    • (2012) Cancer , vol.118 , pp. 2787-2795
    • Hartman, A.R.1    Kaldate, R.R.2    Sailer, L.M.3
  • 6
    • 84863984125 scopus 로고    scopus 로고
    • Prevalence of BRCA1 mutations among 403 women with triple-negative breast cancer: Implications for genetic screening selection criteria: A Hellenic Cooperative Oncology Group Study
    • Fostira F, Tsitlaidou M, Papadimitriou C, et al. Prevalence of BRCA1 mutations among 403 women with triple-negative breast cancer: implications for genetic screening selection criteria: a Hellenic Cooperative Oncology Group Study. Breast Cancer Res Treat 2012; 134: 353-62.
    • (2012) Breast Cancer Res Treat , vol.134 , pp. 353-362
    • Fostira, F.1    Tsitlaidou, M.2    Papadimitriou, C.3
  • 7
    • 84858295021 scopus 로고    scopus 로고
    • BRCA1 testing should be offered to individuals with triple-negative breast cancer diagnosed below 50 years
    • Robertson L, Hanson H, Seal S, et al. BRCA1 testing should be offered to individuals with triple-negative breast cancer diagnosed below 50 years. Br J Cancer 2012; 106: 1234-8.
    • (2012) Br J Cancer , vol.106 , pp. 1234-1238
    • Robertson, L.1    Hanson, H.2    Seal, S.3
  • 8
    • 64749086562 scopus 로고    scopus 로고
    • The prevalence of BRCA1 mutations among young women with triple-negative breast cancer
    • Young SR, Pilarski RT, Donenberg T, et al. The prevalence of BRCA1 mutations among young women with triple-negative breast cancer. BMC Cancer 2009; 9: 86.
    • (2009) BMC Cancer , vol.9 , pp. 86
    • Young, S.R.1    Pilarski, R.T.2    Donenberg, T.3
  • 9
    • 84868217990 scopus 로고    scopus 로고
    • Triple-negative breast cancer and PTEN (phosphatase and tensin homologue) loss are predictors of BRCA1 germline mutations in women with early-onset and familial breast cancer, but not in women with isolated late-onset breast cancer
    • Phuah SY, Looi LM, Hassan N, et al. Triple-negative breast cancer and PTEN (phosphatase and tensin homologue) loss are predictors of BRCA1 germline mutations in women with early-onset and familial breast cancer, but not in women with isolated late-onset breast cancer. Breast Cancer Res 2012; 14: R142.
    • (2012) Breast Cancer Res , vol.14
    • Phuah, S.Y.1    Looi, L.M.2    Hassan, N.3
  • 10
    • 33745200945 scopus 로고    scopus 로고
    • Control of BRCA2 cellular and clinical functions by a nuclear partner, PALB2
    • Xia B, Sheng Q, Nakanishi K, 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
  • 11
    • 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 USA 2009; 106: 7155-60.
    • (2009) Proc Natl Acad Sci USA , vol.106 , pp. 7155-7160
    • Sy, S.M.1    Huen, M.S.2    Chen, J.3
  • 13
    • 79958282990 scopus 로고    scopus 로고
    • BRIP1, PALB2, and RAD51C mutation analysis reveals their relative importance as genetic susceptibility factors for breast cancer
    • Wong MW, Nordfors C, Mossman D, et al. BRIP1, PALB2, and RAD51C mutation analysis reveals their relative importance as genetic susceptibility factors for breast cancer. Breast Cancer Res Treat 2011; 127: 853-9.
    • (2011) Breast Cancer Res Treat , vol.127 , pp. 853-859
    • Wong, M.W.1    Nordfors, C.2    Mossman, D.3
  • 14
    • 77957329128 scopus 로고    scopus 로고
    • PALB2/FANCN: Recombining cancer and Fanconi anemia
    • Tischkowitz M, Xia B,. PALB2/FANCN: recombining cancer and Fanconi anemia. Cancer Res 2010; 70: 7353-9.
    • (2010) Cancer Res , vol.70 , pp. 7353-7359
    • Tischkowitz, M.1    Xia, B.2
  • 15
    • 79958123341 scopus 로고    scopus 로고
    • PALB2 mutations in familial breast and pancreatic cancer
    • Hofstatter EW, Domchek SM, Miron A, et al. PALB2 mutations in familial breast and pancreatic cancer. Fam Cancer 2011; 10: 225-31.
    • (2011) Fam Cancer , vol.10 , pp. 225-231
    • Hofstatter, E.W.1    Domchek, S.M.2    Miron, A.3
  • 16
    • 65649112112 scopus 로고    scopus 로고
    • The breast cancer susceptibility mutation PALB2 1592delT is associated with an aggressive tumor phenotype
    • Heikkinen T, Karkkainen H, Aaltonen K, et al. The breast cancer susceptibility mutation PALB2 1592delT is associated with an aggressive tumor phenotype. Clin Cancer Res 2009; 15: 3214-22.
    • (2009) Clin Cancer Res , vol.15 , pp. 3214-3222
    • Heikkinen, T.1    Karkkainen, H.2    Aaltonen, K.3
  • 18
    • 68149165614 scopus 로고    scopus 로고
    • Predicting the effects of coding non-synonymous variants on protein function using the SIFT algorithm
    • Kumar P, Henikoff S, Ng PC,. Predicting the effects of coding non-synonymous 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
  • 19
    • 0043122919 scopus 로고    scopus 로고
    • SIFT: Predicting amino acid changes that affect protein function
    • DOI 10.1093/nar/gkg509
    • Ng PC, Henikoff S. SIFT,: predicting amino acid changes that affect protein function. Nucleic Acids Res 2003; 31: 3812-14. (Pubitemid 37442253)
    • (2003) Nucleic Acids Research , vol.31 , Issue.13 , pp. 3812-3814
    • Ng, P.C.1    Henikoff, S.2
  • 20
    • 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, 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-E2188.
    • (2011) Hum Mutat , vol.32
    • Hellebrand, H.1    Sutter, C.2    Honisch, E.3
  • 21
    • 84857918420 scopus 로고    scopus 로고
    • Detection of a large rearrangement in PALB2 in Spanish breast cancer families with male breast cancer
    • Blanco A, de la Hoya M, Balmana J, et al. Detection of a large rearrangement in PALB2 in Spanish breast cancer families with male breast cancer. Breast Cancer Res Treat 2012; 132: 307-15.
    • (2012) Breast Cancer Res Treat , vol.132 , pp. 307-315
    • Blanco, A.1    De La Hoya, M.2    Balmana, J.3
  • 22
    • 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, 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
  • 23
    • 77953534887 scopus 로고    scopus 로고
    • PALB2 mutations in male breast cancer: A population-based study in Central Italy
    • Silvestri V, Rizzolo P, Zanna I, et al. PALB2 mutations in male breast cancer: a population-based study in Central Italy. Breast Cancer Res Treat 2010; 122: 299-301.
    • (2010) Breast Cancer Res Treat , vol.122 , pp. 299-301
    • Silvestri, V.1    Rizzolo, P.2    Zanna, I.3
  • 24
    • 77649148280 scopus 로고    scopus 로고
    • A novel germline PALB2 deletion in Polish breast and ovarian cancer patients
    • Dansonka-Mieszkowska A, Kluska A, Moes J, et al. A novel germline PALB2 deletion in Polish breast and ovarian cancer patients. BMC Med Genet 2010; 11: 20.
    • (2010) BMC Med Genet , vol.11 , pp. 20
    • Dansonka-Mieszkowska, A.1    Kluska, A.2    Moes, J.3
  • 25
    • 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, 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
  • 26
    • 79151476244 scopus 로고    scopus 로고
    • Germline mutations in PALB2 in African-American breast cancer cases
    • Ding YC, Steele L, Chu LH, et al. Germline mutations in PALB2 in African-American breast cancer cases. Breast Cancer Res Treat 2011; 126: 227-30.
    • (2011) Breast Cancer Res Treat , vol.126 , pp. 227-230
    • Ding, Y.C.1    Steele, L.2    Chu, L.H.3
  • 27
    • 42949174531 scopus 로고    scopus 로고
    • Analysis of the gene coding for the BRCA2-interacting protein PALB2 in hereditary prostate cancer
    • DOI 10.1002/pros.20729
    • Tischkowitz M, Sabbaghian N, Ray AM, et al. Analysis of the gene coding for the BRCA2-interacting protein PALB2 in hereditary prostate cancer. Prostate 2008; 68: 675-8. (Pubitemid 351614645)
    • (2008) Prostate , vol.68 , Issue.6 , pp. 675-678
    • Tischkowitz, M.1    Sabbaghian, N.2    Ray, A.M.3    Lange, E.M.4    Foulkes, W.D.5    Cooney, K.A.6
  • 28
    • 84860389325 scopus 로고    scopus 로고
    • Screening for BRCA1, BRCA2, CHEK2, PALB2, BRIP1, RAD50, and CDH1 mutations in high-risk Finnish BRCA1/2-founder mutation-negative breast and/or ovarian cancer individuals
    • Kuusisto KM, Bebel A, Vihinen M, et al. Screening for BRCA1, BRCA2, CHEK2, PALB2, BRIP1, RAD50, and CDH1 mutations in high-risk Finnish BRCA1/2-founder mutation-negative breast and/or ovarian cancer individuals. Breast Cancer Res 2011; 13: R20.
    • (2011) Breast Cancer Res , vol.13
    • Kuusisto, K.M.1    Bebel, A.2    Vihinen, M.3
  • 29
    • 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
  • 30
    • 79958732548 scopus 로고    scopus 로고
    • PALB2 mutations in German and Russian patients with bilateral breast cancer
    • Bogdanova N, Sokolenko AP, Iyevleva AG, et al. PALB2 mutations in German and Russian patients with bilateral breast cancer. Breast Cancer Res Treat 2011; 126: 545-50.
    • (2011) Breast Cancer Res Treat , vol.126 , pp. 545-550
    • Bogdanova, N.1    Sokolenko, A.P.2    Iyevleva, A.G.3
  • 31
    • 77955053607 scopus 로고    scopus 로고
    • A PALB2 germline mutation associated with hereditary breast cancer in Italy
    • Papi L, Putignano AL, Congregati C, et al. A PALB2 germline mutation associated with hereditary breast cancer in Italy. Fam Cancer 2010; 9: 181-5.
    • (2010) Fam Cancer , vol.9 , pp. 181-185
    • Papi, L.1    Putignano, A.L.2    Congregati, C.3
  • 32
    • 77955861787 scopus 로고    scopus 로고
    • Evaluation of the contribution of the three breast cancer susceptibility genes CHEK2, STK11, and PALB2 in non-BRCA1/2 French Canadian families with high risk of breast cancer
    • Guenard F, Pedneault CS, Ouellette G, et al. Evaluation of the contribution of the three breast cancer susceptibility genes CHEK2, STK11, and PALB2 in non-BRCA1/2 French Canadian families with high risk of breast cancer. Genet Test Mol Biomarkers 2010; 14: 515-26.
    • (2010) Genet Test Mol Biomarkers , vol.14 , pp. 515-526
    • Guenard, F.1    Pedneault, C.S.2    Ouellette, G.3
  • 35
    • 78650389153 scopus 로고    scopus 로고
    • A PALB2 mutation associated with high risk of breast cancer
    • Southey MC, Teo ZL, Dowty JG, et al. A PALB2 mutation associated with high risk of breast cancer. Breast Cancer Res 2010; 12: R109.
    • (2010) Breast Cancer Res , vol.12
    • Southey, M.C.1    Teo, Z.L.2    Dowty, J.G.3
  • 36
    • 69949169651 scopus 로고    scopus 로고
    • Structural basis for recruitment of BRCA2 by PALB2
    • Oliver AW, Swift S, Lord CJ, et al. Structural basis for recruitment of BRCA2 by PALB2. EMBO Rep 2009; 10: 990-6.
    • (2009) EMBO Rep , vol.10 , pp. 990-996
    • Oliver, A.W.1    Swift, S.2    Lord, C.J.3
  • 37
    • 62549115236 scopus 로고    scopus 로고
    • PALB2 links BRCA1 and BRCA2 in the DNA-damage response
    • Zhang F, Ma J, Wu J, et al. PALB2 links BRCA1 and BRCA2 in the DNA-damage response. Curr Biol 2009; 19: 524-9.
    • (2009) Curr Biol , vol.19 , pp. 524-529
    • Zhang, F.1    Ma, J.2    Wu, J.3
  • 39
    • 84873696289 scopus 로고    scopus 로고
    • Whole exome sequencing suggests much of non-BRCA1/BRCA2 familial breast cancer is due to moderate and low penetrance susceptibility alleles
    • Gracia-Aznarez FJ, Fernandez V, Pita G, et al. Whole exome sequencing suggests much of non-BRCA1/BRCA2 familial breast cancer is due to moderate and low penetrance susceptibility alleles. PLoS One 2013; 8: e55681.
    • (2013) PLoS One , vol.8
    • Gracia-Aznarez, F.J.1    Fernandez, V.2    Pita, G.3
  • 40
    • 55749109888 scopus 로고    scopus 로고
    • Are the so-called low penetrance breast cancer genes, ATM, BRIP1, PALB2 and CHEK2, high risk for women with strong family histories?
    • Byrnes GB, Southey MC, Hopper JL,. Are the so-called low penetrance breast cancer genes, ATM, BRIP1, PALB2 and CHEK2, high risk for women with strong family histories? Breast Cancer Res 2008; 10: 208.
    • (2008) Breast Cancer Res , vol.10 , pp. 208
    • Byrnes, G.B.1    Southey, M.C.2    Hopper, J.L.3
  • 41
    • 58149234684 scopus 로고    scopus 로고
    • Therapeutic strategies for triple-negative breast cancer
    • Tan AR, Swain SM,. Therapeutic strategies for triple-negative breast cancer. Cancer J 2008; 14: 343-51.
    • (2008) Cancer J , vol.14 , pp. 343-351
    • Tan, A.R.1    Swain, S.M.2
  • 42
    • 70449645182 scopus 로고    scopus 로고
    • T1N0 triple negative breast cancer: Risk of recurrence and adjuvant chemotherapy
    • Kaplan HG, Malmgren JA, Atwood M,. T1N0 triple negative breast cancer: risk of recurrence and adjuvant chemotherapy. Breast J 2009; 15: 454-60.
    • (2009) Breast J , vol.15 , pp. 454-460
    • Kaplan, H.G.1    Malmgren, J.A.2    Atwood, M.3
  • 43
    • 67650471685 scopus 로고    scopus 로고
    • Inhibition of poly(ADP-ribose) polymerase in tumors from BRCA mutation carriers
    • Fong PC, Boss DS, Yap TA, et al. Inhibition of poly(ADP-ribose) polymerase in tumors from BRCA mutation carriers. N Engl J Med 2009; 361: 123-34.
    • (2009) N Engl J Med , vol.361 , pp. 123-134
    • Fong, P.C.1    Boss, D.S.2    Yap, T.A.3
  • 44
    • 77955019276 scopus 로고    scopus 로고
    • Oral poly(ADP-ribose) polymerase inhibitor olaparib in patients with BRCA1 or BRCA2 mutations and advanced breast cancer: A proof-of-concept trial
    • Tutt A, Robson M, Garber JE, et al. Oral poly(ADP-ribose) polymerase inhibitor olaparib in patients with BRCA1 or BRCA2 mutations and advanced breast cancer: a proof-of-concept trial. Lancet 2010; 376: 235-44.
    • (2010) Lancet , vol.376 , pp. 235-244
    • Tutt, A.1    Robson, M.2    Garber, J.E.3
  • 45
    • 77955066856 scopus 로고    scopus 로고
    • PARP inhibitors in BRCA1/BRCA2 germline mutation carriers with ovarian and breast cancer
    • 10
    • Annunziata CM, Bates SE,. PARP inhibitors in BRCA1/BRCA2 germline mutation carriers with ovarian and breast cancer. F1000 Biol Rep 2010; 2: pii 10.
    • (2010) F1000 Biol Rep , vol.2
    • Annunziata, C.M.1    Bates, S.E.2
  • 46
    • 77957760669 scopus 로고    scopus 로고
    • Cooperation of breast cancer proteins PALB2 and piccolo BRCA2 in stimulating homologous recombination
    • Buisson R, Dion-Cote AM, Coulombe Y, et al. Cooperation of breast cancer proteins PALB2 and piccolo BRCA2 in stimulating homologous recombination. Nat Struct Mol Biol 2010; 17: 1247-54.
    • (2010) Nat Struct Mol Biol , vol.17 , pp. 1247-1254
    • Buisson, R.1    Dion-Cote, A.M.2    Coulombe, Y.3
  • 47
    • 79954560252 scopus 로고    scopus 로고
    • Synthetic lethality of PARP inhibition in cancers lacking BRCA1 and BRCA2 mutations
    • Dedes KJ, Wilkerson PM, Wetterskog D, et al. Synthetic lethality of PARP inhibition in cancers lacking BRCA1 and BRCA2 mutations. Cell Cycle 2011; 10: 1192-9.
    • (2011) Cell Cycle , vol.10 , pp. 1192-1199
    • Dedes, K.J.1    Wilkerson, P.M.2    Wetterskog, D.3


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