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Statements

Subject Item
n2:RIV%2F00216224%3A14310%2F01%3A00005020%21RIV%2F2002%2FMSM%2F143102%2FN
rdf:type
n4:Vysledek skos:Concept
dcterms:description
Germline mutations in breast cancer susceptibility genes, BRCA1 and BRCA2, are responsible for a substantial proportion of high-risk breast and breast/ovarian cancer families. To characterize the spectrum of BRCA1 and BRCA2 mutations, we screened Czech families with reast/ovarian cancer using the non-radioactive protein truncation test, heteroduplex analysis and direct sequencing. In a group of 100 high-risk breast and breast/ovarian cancer families, four novel frame shift mutations were identified in BRCA1 and BRCA2 genes. In BRCA1, two novel frame shift mutations were identified as 3761-3762delGA and 2616-2617ins10; in BRCA2, two novel frame shift mutations were identified as 5073-5074delCT and 6866delC. Furthermore, a novel missense substitution M18K in BRCA1 gene in a breast/ovarian cancer family was identified which lies adjacent just upstream of the most highly conserved C3HC4 RING zinc finger motif. To examine the tertiary structure of the RING zinc finger domain and possible effects of M18K s Germline mutations in breast cancer susceptibility genes, BRCA1 and BRCA2, are responsible for a substantial proportion of high-risk breast and breast/ovarian cancer families. To characterize the spectrum of BRCA1 and BRCA2 mutations, we screened Czech families with reast/ovarian cancer using the non-radioactive protein truncation test, heteroduplex analysis and direct sequencing. In a group of 100 high-risk breast and breast/ovarian cancer families, four novel frame shift mutations were identified in BRCA1 and BRCA2 genes. In BRCA1, two novel frame shift mutations were identified as 3761-3762delGA and 2616-2617ins10; in BRCA2, two novel frame shift mutations were identified as 5073-5074delCT and 6866delC. Furthermore, a novel missense substitution M18K in BRCA1 gene in a breast/ovarian cancer family was identified which lies adjacent just upstream of the most highly conserved C3HC4 RING zinc finger motif. To examine the tertiary structure of the RING zinc finger domain and possible effects of M18K s
dcterms:title
Four novel germline BRCA1 and BRCA2 mutations in breast and breast-ovarian cancer Four novel germline BRCA1 and BRCA2 mutations in breast and breast-ovarian cancer
skos:prefLabel
Four novel germline BRCA1 and BRCA2 mutations in breast and breast-ovarian cancer Four novel germline BRCA1 and BRCA2 mutations in breast and breast-ovarian cancer
skos:notation
RIV/00216224:14310/01:00005020!RIV/2002/MSM/143102/N
n3:strany
545
n3:aktivita
n11:P
n3:aktivity
P(LN00A016)
n3:cisloPeriodika
1
n3:dodaniDat
n7:2002
n3:domaciTvurceVysledku
n17:1030175
n3:druhVysledku
n8:J
n3:duvernostUdaju
n13:S
n3:entitaPredkladatele
n18:predkladatel
n3:idSjednocenehoVysledku
680686
n3:idVysledku
RIV/00216224:14310/01:00005020
n3:jazykVysledku
n6:eng
n3:klicovaSlova
Four novel germline BRCA1 and BRCA2 mutations in breast and breast-ovarian cancer
n3:klicoveSlovo
n15:Four%20novel%20germline%20BRCA1%20and%20BRCA2%20mutations%20in%20breast%20and%20breast-ovarian%20cancer
n3:kodStatuVydavatele
GB - Spojené království Velké Británie a Severního Irska
n3:kontrolniKodProRIV
[48F680B2B24B]
n3:nazevZdroje
Human Mutation
n3:obor
n12:EB
n3:pocetDomacichTvurcuVysledku
1
n3:pocetTvurcuVysledku
4
n3:pocetUcastnikuAkce
0
n3:pocetZahranicnichUcastnikuAkce
0
n3:projekt
n10:LN00A016
n3:rokUplatneniVysledku
n7:2001
n3:svazekPeriodika
18
n3:tvurceVysledku
Macháčková, Eva Valík, Dalibor Damborský, Jiří Foretová, Lenka
s:numberOfPages
5
n16:organizacniJednotka
14310