메뉴 건너뛰기




Volumn 1, Issue 1, 2012, Pages 1-10

BRCA1 and BRCA2 analysis of argentinean breast/ovarian cancer patients selected for age and family history highlights a role for novel mutations of putative south-American origin

Author keywords

Argentina; Ashkenazi; BRCA1 BRCA2; Early onset breast cancer; Ethnicity; Familial breast cancer; Genetic variants; Germline mutations

Indexed keywords


EID: 84873519343     PISSN: None     EISSN: 21931801     Source Type: Journal    
DOI: 10.1186/2193-1801-1-20     Document Type: Article
Times cited : (42)

References (59)
  • 1
    • 0035995598 scopus 로고    scopus 로고
    • Familial risks of breast cancer
    • Easton DF (2002) Familial risks of breast cancer. Breast Cancer Res 4(5):179-181.
    • (2002) Breast Cancer Res , vol.4 , Issue.5 , pp. 179-181
    • Easton, D.F.1
  • 2
    • 0029955159 scopus 로고    scopus 로고
    • The genetic attributable risk of breast and ovarian cancer
    • Claus EB, Schildkraut JM, Thompson WD, Risch NJ (1996) The genetic attributable risk of breast and ovarian cancer. Cancer 77(11):2318-2324.
    • (1996) Cancer , vol.77 , Issue.11 , pp. 2318-2324
    • Claus, E.B.1    Schildkraut, J.M.2    Thompson, W.D.3    Risch, N.J.4
  • 5
    • 78649663174 scopus 로고    scopus 로고
    • BRCA mutations in the management of breast cancer: The state of the art
    • Narod SA (2010) BRCA mutations in the management of breast cancer: the state of the art. Nat Rev Clin Oncol 7(12):702-707.
    • (2010) Nat Rev Clin Oncol , vol.7 , Issue.12 , pp. 702-707
    • Narod, S.A.1
  • 7
    • 85080484712 scopus 로고    scopus 로고
    • Breast Cancer Information Core database
    • Breast Cancer Information Core database. http://researcnhgrinihgov/bic
  • 8
    • 77951237625 scopus 로고    scopus 로고
    • BRCA1 and BRCA2 mutations across race and ethnicity: Distribution and clinical implications
    • Kurian AW (2010) BRCA1 and BRCA2 mutations across race and ethnicity: distribution and clinical implications. Curr Opin Obstet Gynecol 22(1):72-78.
    • (2010) Curr Opin Obstet Gynecol , vol.22 , Issue.1 , pp. 72-78
    • Kurian, A.W.1
  • 10
    • 8544252461 scopus 로고    scopus 로고
    • Ashkenazi Jewish genetic disorders
    • Charrow J (2004) Ashkenazi Jewish genetic disorders. Fam Cancer 3(3-4):201-206.
    • (2004) Fam Cancer , vol.3 , Issue.3-4 , pp. 201-206
    • Charrow, J.1
  • 14
    • 77950371028 scopus 로고    scopus 로고
    • Long-term outcomes of breast cancer in women aged 30 years or younger, based on family history, pathology and BRCA1/BRCA2/TP53 status
    • Evans DG, Moran A, Hartley R, Dawson J, Bulman B, Knox F, Howell A, Lalloo F (2010) Long-term outcomes of breast cancer in women aged 30 years or younger, based on family history, pathology and BRCA1/BRCA2/TP53 status. Br J Cancer 102(7):1091-1098.
    • (2010) Br J Cancer , vol.102 , Issue.7 , pp. 1091-1098
    • Evans, D.G.1    Moran, A.2    Hartley, R.3    Dawson, J.4    Bulman, B.5    Knox, F.6    Howell, A.7    Lalloo, F.8
  • 15
    • 0035884714 scopus 로고    scopus 로고
    • Breast cancer in South America: Challenges to improve early detection and medical management of a public health problem
    • Schwartsmann G (2001) Breast cancer in South America: challenges to improve early detection and medical management of a public health problem. J Clin Oncol 19(18 Suppl):118S-124S
    • (2001) J Clin Oncol , vol.19 , Issue.18 SUPPL. , pp. 118-124
    • Schwartsmann, G.1
  • 21
    • 0036551324 scopus 로고    scopus 로고
    • A BRCA1 mutation in Native North American families
    • Liede A, Jack E, Hegele RA, Narod SA (2002) A BRCA1 mutation in Native North American families. Hum Mutat 19(4):460.
    • (2002) Hum Mutat , vol.19 , Issue.4 , pp. 460
    • Liede, A.1    Jack, E.2    Hegele, R.A.3    Narod, S.A.4
  • 25
    • 0033027029 scopus 로고    scopus 로고
    • Reference database of hypervariable genetic markers of Argentina: Application for molecular anthropology and forensic casework
    • Sala A, Penacino G, Carnese R, Corach D (1999) Reference database of hypervariable genetic markers of Argentina: application for molecular anthropology and forensic casework. Electrophoresis 20(8):1733-1739.
    • (1999) Electrophoresis , vol.20 , Issue.8 , pp. 1733-1739
    • Sala, A.1    Penacino, G.2    Carnese, R.3    Corach, D.4
  • 26
    • 0036021041 scopus 로고    scopus 로고
    • A cautionary note: False homozygosity for BRCA2. 6174delT mutation resulting from a single nucleotide polymorphism masking the wt allele
    • Solano AR, Dourisboure RJ, Weitzel J, Podesta EJ (2002) A cautionary note: false homozygosity for BRCA2. 6174delT mutation resulting from a single nucleotide polymorphism masking the wt allele. Eur J Hum Genet 10(6):395-397.
    • (2002) Eur J Hum Genet , vol.10 , Issue.6 , pp. 395-397
    • Solano, A.R.1    Dourisboure, R.J.2    Weitzel, J.3    Podesta, E.J.4
  • 29
    • 33644993216 scopus 로고    scopus 로고
    • Computational approaches for predicting the biological effect of p53 missense mutations: A comparison of three sequence analysis based methods
    • Mathe E, Olivier M, Kato S, Ishioka C, Hainaut P, Tavtigian SV (2006) Computational approaches for predicting the biological effect of p53 missense mutations: a comparison of three sequence analysis based methods. Nucleic Acids Res 34(5):1317-1325.
    • (2006) Nucleic Acids Res , vol.34 , Issue.5 , pp. 1317-1325
    • Mathe, E.1    Olivier, M.2    Kato, S.3    Ishioka, C.4    Hainaut, P.5    Tavtigian, S.V.6
  • 30
    • 0036119504 scopus 로고    scopus 로고
    • Accounting for human polymorphisms predicted to affect protein function
    • Ng PC, Henikoff S (2002) Accounting for human polymorphisms predicted to affect protein function. Genome Res 12(3):436-446.
    • (2002) Genome Res , vol.12 , Issue.3 , pp. 436-446
    • Ng, P.C.1    Henikoff, S.2
  • 32
    • 0031035359 scopus 로고    scopus 로고
    • The founder mutations 185delAG and 5382insC in BRCA1 and 6174delT in BRCA2 appear in 60% of ovarian cancer and 30% of early-onset breast cancer patients among Ashkenazi women
    • Abeliovich D, Kaduri L, Lerer I, Weinberg N, Amir G, Sagi M, Zlotogora J, Heching N, Peretz T (1997) The founder mutations 185delAG and 5382insC in BRCA1 and 6174delT in BRCA2 appear in 60% of ovarian cancer and 30% of early-onset breast cancer patients among Ashkenazi women. Am J Hum Genet 60(3):505-514.
    • (1997) Am J Hum Genet , vol.60 , Issue.3 , pp. 505-514
    • Abeliovich, D.1    Kaduri, L.2    Lerer, I.3    Weinberg, N.4    Amir, G.5    Sagi, M.6    Zlotogora, J.7    Heching, N.8    Peretz, T.9
  • 34
    • 78049461605 scopus 로고    scopus 로고
    • Screening: BRCA testing in women younger than 50 with triple-negative breast cancer is cost effective
    • Hutchinson L (2010) Screening: BRCA testing in women younger than 50 with triple-negative breast cancer is cost effective. Nat Rev Clin Oncol 7(11):611.
    • (2010) Nat Rev Clin Oncol , vol.7 , Issue.11 , pp. 611
    • Hutchinson, L.1
  • 43
    • 4544336084 scopus 로고    scopus 로고
    • Integrated evaluation of DNA sequence variants of unknown clinical significance: Application to BRCA1 and BRCA2
    • Goldgar DE, Easton DF, Deffenbaugh AM, Monteiro AN, Tavtigian SV, Couch FJ (2004) Integrated evaluation of DNA sequence variants of unknown clinical significance: application to BRCA1 and BRCA2. Am J Hum Genet 75(4):535-544.
    • (2004) Am J Hum Genet , vol.75 , Issue.4 , pp. 535-544
    • Goldgar, D.E.1    Easton, D.F.2    Deffenbaugh, A.M.3    Monteiro, A.N.4    Tavtigian, S.V.5    Couch, F.J.6
  • 44
    • 2542543477 scopus 로고    scopus 로고
    • Structure-based assessment of missense mutations in human BRCA1: Implications for breast and ovarian cancer predisposition
    • Mirkovic N, Marti-Renom MA, Weber BL, Sali A, Monteiro AN (2004) Structure-based assessment of missense mutations in human BRCA1: implications for breast and ovarian cancer predisposition. Cancer Res 64(11):3790-3797.
    • (2004) Cancer Res , vol.64 , Issue.11 , pp. 3790-3797
    • Mirkovic, N.1    Marti-Renom, M.A.2    Weber, B.L.3    Sali, A.4    Monteiro, A.N.5
  • 50
    • 32944478180 scopus 로고    scopus 로고
    • Microsatellite instability analysis in hereditary non-polyposis colon cancer using the Bethesda consensus panel of microsatellite markers in the absence of proband normal tissue
    • Chialina SG, Fornes C, Landi C, de la Vega Elena CD, Nicolorich MV, Dourisboure RJ, Solano A, Solis EA (2006) Microsatellite instability analysis in hereditary non-polyposis colon cancer using the Bethesda consensus panel of microsatellite markers in the absence of proband normal tissue. BMC Med Genet 7:5.
    • (2006) BMC Med Genet , vol.7 , pp. 5
    • Chialina, S.G.1    Fornes, C.2    Landi, C.3    de la Vega, E.C.D.4    Nicolorich, M.V.5    Dourisboure, R.J.6    Solano, A.7    Solis, E.A.8
  • 51
    • 23644441629 scopus 로고    scopus 로고
    • Penetrance and clinical manifestations of non-hotspot germline RET mutation, C630R, in a family with medullary thyroid carcinoma
    • Dourisboure RJ, Belli S, Domenichini E, Podesta EJ, Eng C, Solano AR (2005) Penetrance and clinical manifestations of non-hotspot germline RET mutation, C630R, in a family with medullary thyroid carcinoma. Thyroid 15 (7):668-671.
    • (2005) Thyroid , vol.15 , Issue.7 , pp. 668-671
    • Dourisboure, R.J.1    Belli, S.2    Domenichini, E.3    Podesta, E.J.4    Eng, C.5    Solano, A.R.6
  • 54
    • 84858296064 scopus 로고    scopus 로고
    • BRCA1 and BRCA2 germline mutations in 85 Iranian breast cancer patients
    • Keshavarzi F, Javadi GR, Zeinali S (2012) BRCA1 and BRCA2 germline mutations in 85 Iranian breast cancer patients. Fam Cancer 11(1):57-67.
    • (2012) Fam Cancer , vol.11 , Issue.1 , pp. 57-67
    • Keshavarzi, F.1    Javadi, G.R.2    Zeinali, S.3
  • 55
    • 50549096296 scopus 로고    scopus 로고
    • Novel sequence variants and a high frequency of recurrent polymorphisms in BRCA1 gene in Sri Lankan breast cancer patients and at risk individuals
    • De Silva W, Karunanayake EH, Tennekoon KH, Allen M, Amarasinghe I, Angunawala P, Ziard MH (2008) Novel sequence variants and a high frequency of recurrent polymorphisms in BRCA1 gene in Sri Lankan breast cancer patients and at risk individuals. BMC Cancer 8:214.
    • (2008) BMC Cancer , vol.8 , pp. 214
    • de Silva, W.1    Karunanayake, E.H.2    Tennekoon, K.H.3    Allen, M.4    Amarasinghe, I.5    Angunawala, P.6    Ziard, M.H.7
  • 57
    • 27544483543 scopus 로고    scopus 로고
    • Application of embryonic lethal or other obvious phenotypes to characterize the clinical significance of genetic variants found in trans with known deleterious mutations
    • Judkins T, Hendrickson BC, Deffenbaugh AM, Eliason K, Leclair B, Norton MJ, Ward BE, Pruss D, Scholl T (2005) Application of embryonic lethal or other obvious phenotypes to characterize the clinical significance of genetic variants found in trans with known deleterious mutations. Cancer Res 65(21):10096-10103.
    • (2005) Cancer Res , vol.65 , Issue.21 , pp. 10096-10103
    • Judkins, T.1    Hendrickson, B.C.2    Deffenbaugh, A.M.3    Eliason, K.4    Leclair, B.5    Norton, M.J.6    Ward, B.E.7    Pruss, D.8    Scholl, T.9
  • 58
    • 1942501693 scopus 로고    scopus 로고
    • BRCA1 and BRCA2 germline mutation spectrum and frequencies in Belgian breast/ovarian cancer families
    • Claes K, Poppe B, Coene I, Paepe AD, Messiaen L (2004) BRCA1 and BRCA2 germline mutation spectrum and frequencies in Belgian breast/ovarian cancer families. Br J Cancer 90(6):1244-1251.
    • (2004) Br J Cancer , vol.90 , Issue.6 , pp. 1244-1251
    • Claes, K.1    Poppe, B.2    Coene, I.3    Paepe, A.D.4    Messiaen, L.5


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.