메뉴 건너뛰기




Volumn 60, Issue 5, 1997, Pages 1041-1049

A high proportion of novel mutations in BRCA1 with strong founder effects among Dutch and Belgian hereditary breast and ovarian cancer families

(47)  Peelen, T a   Van Vliet, M a   Petrij Bosch, A a   Mieremet, R a   Szabo, C c   Van Den Ouweland, A M W d   Hogervorst, F e   Brohet, R e   Ligtenberg, M J L g   Teugels, E h   Van Der Luijt, R i   Van Der Hout, A H j   Gille, J J P f   Pals, G f   Jedema, I a   Olmer, R a   Van Leeuwen, I a,b   Newman, B k   Plandsoen, M d   Van Der Est, M d   more..


Author keywords

[No Author keywords available]

Indexed keywords

ALLELE; ARTICLE; BREAST CANCER; CANCER FAMILY; CANCER INCIDENCE; FAMILIAL CANCER; FEMALE; GENE MUTATION; HAPLOTYPE; HUMAN; MAJOR CLINICAL STUDY; NETHERLANDS; OVARY CANCER; PRIORITY JOURNAL;

EID: 16944365091     PISSN: 00029297     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Article
Times cited : (158)

References (36)
  • 2
    • 0029812426 scopus 로고    scopus 로고
    • A common BRCA1 mutation in Norwegian breast and ovarian cancer families?
    • Andersen TI, Børresen A-L, Moller P (1996) A common BRCA1 mutation in Norwegian breast and ovarian cancer families? Am J Hum Genet 59:486-487
    • (1996) Am J Hum Genet , vol.59 , pp. 486-487
    • Andersen, T.I.1    Børresen, A.-L.2    Moller, P.3
  • 3
    • 0029949217 scopus 로고    scopus 로고
    • Two distinct origins of a common BRCA1 mutation in breast-ovarian cancer families: A genetic study of 15 185delAG-mutation kindreds
    • Berman DB, Wagner-Costalas J, Schultz DC, Lynch HT, Daly M, Godwin AK (1996) Two distinct origins of a common BRCA1 mutation in breast-ovarian cancer families: a genetic study of 15 185delAG-mutation kindreds. Am J Hum Genet 58:1166-1176
    • (1996) Am J Hum Genet , vol.58 , pp. 1166-1176
    • Berman, D.B.1    Wagner-Costalas, J.2    Schultz, D.C.3    Lynch, H.T.4    Daly, M.5    Godwin, A.K.6
  • 5
    • 16944367122 scopus 로고    scopus 로고
    • Breast Cancer Information Core (1996) http://www.nhgri.nih .gov/Intramural_research/Lab_transfer/Bic
    • (1996)
  • 6
    • 10244267577 scopus 로고    scopus 로고
    • BRCA1 germline mutational spectrum in Italian families from Tuscany: A high frequency of novel mutations
    • Caligo MA, Ghimenti C, Cipollini G, Ricci S, Brunetti I, Marchetti V, Olsen R, et al (1996) BRCA1 germline mutational spectrum in Italian families from Tuscany: a high frequency of novel mutations. Oncogene 13:1483-1488
    • (1996) Oncogene , vol.13 , pp. 1483-1488
    • Caligo, M.A.1    Ghimenti, C.2    Cipollini, G.3    Ricci, S.4    Brunetti, I.5    Marchetti, V.6    Olsen, R.7
  • 7
    • 0028148889 scopus 로고
    • Mutations in the BRCA1 gene in families with early-onset breast and ovarian cancer
    • Castilla L, Couch F, Erdos M, Hoskins K, Calzone K, Garber J, Boyd J, et al (1994) Mutations in the BRCA1 gene in families with early-onset breast and ovarian cancer. Nat Genet 8:387-391
    • (1994) Nat Genet , vol.8 , pp. 387-391
    • Castilla, L.1    Couch, F.2    Erdos, M.3    Hoskins, K.4    Calzone, K.5    Garber, J.6    Boyd, J.7
  • 10
    • 0027433563 scopus 로고
    • Genetic linkage analysis in familial breast and ovarian cancer: Results from 214 families
    • Easton DF, Bishop DT, Ford D, Crockford GP, Breast Cancer Linkage Consortium (1993) Genetic linkage analysis in familial breast and ovarian cancer: results from 214 families. Am J Hum Genet 52:678-701
    • (1993) Am J Hum Genet , vol.52 , pp. 678-701
    • Easton, D.F.1    Bishop, D.T.2    Ford, D.3    Crockford, G.P.4
  • 11
    • 0028843102 scopus 로고
    • Breast and ovarian cancer incidence in BRCA1-mutation carriers
    • Easton DF, Ford D, Bishop DT, Breast Cancer Linkage Consortium (1995) Breast and ovarian cancer incidence in BRCA1-mutation carriers. Am J Hum Genet 56:265-271
    • (1995) Am J Hum Genet , vol.56 , pp. 265-271
    • Easton, D.F.1    Ford, D.2    Bishop, D.T.3
  • 12
    • 0028798979 scopus 로고
    • The genetics of breast and ovarian cancer
    • Ford D, Easton D (1995) The genetics of breast and ovarian cancer. Br J Cancer 72:805-812
    • (1995) Br J Cancer , vol.72 , pp. 805-812
    • Ford, D.1    Easton, D.2
  • 13
    • 0028330276 scopus 로고
    • Risks of cancer in BRCA1-mutation carriers
    • Ford D, Easton D, Bishop D, Narod S, Goldgar D, Breast Cancer Linkage Consortium (1994) Risks of cancer in BRCA1-mutation carriers. Lancet 343:692-695
    • (1994) Lancet , vol.343 , pp. 692-695
    • Ford, D.1    Easton, D.2    Bishop, D.3    Narod, S.4    Goldgar, D.5
  • 14
    • 0028826709 scopus 로고
    • Estimates of the gene frequency of BRCA1 and its contribution to breast and ovarian cancer incidence
    • Ford D, Easton DF, Peto J (1995) Estimates of the gene frequency of BRCA1 and its contribution to breast and ovarian cancer incidence. Am J Hum Genet 57:1457-1462
    • (1995) Am J Hum Genet , vol.57 , pp. 1457-1462
    • Ford, D.1    Easton, D.F.2    Peto, J.3
  • 15
    • 0028034348 scopus 로고
    • Confirmation of BRCA1 by analysis of germline mutations linked to breast and ovarian cancer in ten families
    • Friedman L, Ostermeyer E, Szabo C, Dowd P, Lynch E, Rowell S, King M (1994) Confirmation of BRCA1 by analysis of germline mutations linked to breast and ovarian cancer in ten families. Nat Genet 8:399-404
    • (1994) Nat Genet , vol.8 , pp. 399-404
    • Friedman, L.1    Ostermeyer, E.2    Szabo, C.3    Dowd, P.4    Lynch, E.5    Rowell, S.6    King, M.7
  • 16
    • 0028863564 scopus 로고
    • Novel inherited mutations and variable expressivity of BRCA1 alleles, including the founder mutation 185delAG in Ashkenazi Jewish families
    • Friedman LS, Szabo CI, Ostermeyer EA, Dowd P, Butler L, Park T, Lee MK, et al (1995) Novel inherited mutations and variable expressivity of BRCA1 alleles, including the founder mutation 185delAG in Ashkenazi Jewish families. Am J Hum Genet 57:1284-1297
    • (1995) Am J Hum Genet , vol.57 , pp. 1284-1297
    • Friedman, L.S.1    Szabo, C.I.2    Ostermeyer, E.A.3    Dowd, P.4    Butler, L.5    Park, T.6    Lee, M.K.7
  • 17
    • 0028844202 scopus 로고
    • Germline mutations of the BRCA 1 gene in breast and ovarian cancer families provide evidence for a genotype-phenotype correlation
    • Gayther SA, Warren W, Mazoyer S, Russell PA, Harrington PA, Chiano M, Seal S, et al (1995) Germline mutations of the BRCA 1 gene in breast and ovarian cancer families provide evidence for a genotype-phenotype correlation. Nat Genet 11:428-433
    • (1995) Nat Genet , vol.11 , pp. 428-433
    • Gayther, S.A.1    Warren, W.2    Mazoyer, S.3    Russell, P.A.4    Harrington, P.A.5    Chiano, M.6    Seal, S.7
  • 22
    • 0024284028 scopus 로고
    • A simple salting out procedure for extracting DNA from human nucleated cells
    • Miller SA, Dykes DD, Polesky HF (1988) A simple salting out procedure for extracting DNA from human nucleated cells. Nucleic Acids Res 16:1215
    • (1988) Nucleic Acids Res , vol.16 , pp. 1215
    • Miller, S.A.1    Dykes, D.D.2    Polesky, H.F.3
  • 23
    • 19144362921 scopus 로고    scopus 로고
    • Haplotype and phenotype analysis of six recurrent BRCA1 mutations in 61 families: Results of an international study
    • Neuhausen SL, Mazoyer S, Friedman L, Stratton M, Offit K, Caligo A, Tomlinson G, et al (1996) Haplotype and phenotype analysis of six recurrent BRCA1 mutations in 61 families: results of an international study. Am J Hum Genet 58: 271-280
    • (1996) Am J Hum Genet , vol.58 , pp. 271-280
    • Neuhausen, S.L.1    Mazoyer, S.2    Friedman, L.3    Stratton, M.4    Offit, K.5    Caligo, A.6    Tomlinson, G.7
  • 25
    • 0028819262 scopus 로고
    • Genetic analysis of idiopathic torsion dystonia in Ashkenazi Jews and their recent descent from a small founder population
    • Risch N, De Leon D, Ozelius L, Kramer P, Almasy L, Singer B, Fahn S, et al (1995) Genetic analysis of idiopathic torsion dystonia in Ashkenazi Jews and their recent descent from a small founder population. Nat Genet 9:152-159
    • (1995) Nat Genet , vol.9 , pp. 152-159
    • Risch, N.1    De Leon, D.2    Ozelius, L.3    Kramer, P.4    Almasy, L.5    Singer, B.6    Fahn, S.7
  • 26
    • 0029794992 scopus 로고    scopus 로고
    • Ashkenazi Jewish population frequencies for common mutations in BRCA1 and BRCA2
    • Roa BB, Boyd AA, Volcik K, Richards CS (1996) Ashkenazi Jewish population frequencies for common mutations in BRCA1 and BRCA2. Nat Genet 14:185-187
    • (1996) Nat Genet , vol.14 , pp. 185-187
    • Roa, B.B.1    Boyd, A.A.2    Volcik, K.3    Richards, C.S.4
  • 27
    • 0023022499 scopus 로고
    • Analysis of enzymatically amplified β-globin and HLA-DQa DNA with allele-specific oligonucleotide probes
    • Saiki RK, Bugavvan TL, Horn GT, Mullis KB, Ehrlich HA (1986) Analysis of enzymatically amplified β-globin and HLA-DQa DNA with allele-specific oligonucleotide probes. Nature 324:163-166
    • (1986) Nature , vol.324 , pp. 163-166
    • Saiki, R.K.1    Bugavvan, T.L.2    Horn, G.T.3    Mullis, K.B.4    Ehrlich, H.A.5
  • 29
    • 0028834145 scopus 로고
    • A collaborative survey of 80 mutations in the BRCA1 breast and ovarian cancer susceptibility gene: Implications for presymptomatic testing and screening
    • Shattuck-Eidens D, McClure M, Simard J, Labrie F, Narod S, Couch F, Hoskins K, et al (1995) A collaborative survey of 80 mutations in the BRCA1 breast and ovarian cancer susceptibility gene: implications for presymptomatic testing and screening. JAMA 273:535-541
    • (1995) JAMA , vol.273 , pp. 535-541
    • Shattuck-Eidens, D.1    McClure, M.2    Simard, J.3    Labrie, F.4    Narod, S.5    Couch, F.6    Hoskins, K.7
  • 31
    • 0029083814 scopus 로고
    • The carrier frequency of the BRCA1 185delAG mutation is approximately 1 percent in Ashkenazi Jewish individuals
    • Struewing J, Abeliovich D, Peretz T, Avishai N, Kaback M, Collins F, Brody L (1995a) The carrier frequency of the BRCA1 185delAG mutation is approximately 1 percent in Ashkenazi Jewish individuals. Nat Genet 11:198-200
    • (1995) Nat Genet , vol.11 , pp. 198-200
    • Struewing, J.1    Abeliovich, D.2    Peretz, T.3    Avishai, N.4    Kaback, M.5    Collins, F.6    Brody, L.7
  • 34
    • 0028289053 scopus 로고
    • Rapid detection of translation-terminating mutations at the adenomatous polyposis coli (APC) gene by direct protein truncation test
    • Van der Luijt R, Meera Khan P, Vasen H, Van Leeuwen C, Tops C, Roest P, Den Dunnen J, et al (1994) Rapid detection of translation-terminating mutations at the adenomatous polyposis coli (APC) gene by direct protein truncation test. Genomics 20:1-4
    • (1994) Genomics , vol.20 , pp. 1-4
    • Van Der Luijt, R.1    Meera Khan, P.2    Vasen, H.3    Van Leeuwen, C.4    Tops, C.5    Roest, P.6    Den Dunnen, J.7
  • 36
    • 0027161022 scopus 로고
    • Mutation of human short tandem repeats
    • Weber J, Wong C (1993) Mutation of human short tandem repeats. Hum Mol Genet 2:1123-1128
    • (1993) Hum Mol Genet , vol.2 , pp. 1123-1128
    • Weber, J.1    Wong, C.2


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.