About: Four novel germline BRCA1 and BRCA2 mutations in breast and breast-ovarian cancer

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About: Four novel germline BRCA1 and BRCA2 mutations in breast and breast-ovarian cancer Goto Sponge NotDistinct Permalink

An Entity of Type : http://linked.opendata.cz/ontology/domain/vavai/Vysledek, within Data Space : linked.opendata.cz associated with source document(s)

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rdf:type	skos:Concept http://linked.opendata.cz/ontology/domain/vavai/Vysledek
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 (en)
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 (en)
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 (en)
skos:notation	RIV/00216224:14310/01:00005020!RIV/2002/MSM/143102/N
http://linked.open.../vavai/riv/strany	545
http://linked.open...avai/riv/aktivita	P
http://linked.open...avai/riv/aktivity	P(LN00A016)
http://linked.open...iv/cisloPeriodika	1
http://linked.open...vai/riv/dodaniDat	2002
http://linked.open...aciTvurceVysledku	Damborský, Jiří
http://linked.open.../riv/druhVysledku	J - Článek v odborném periodiku
http://linked.open...iv/duvernostUdaju	S - Úplné a pravdivé údaje nepodléhající ochraně podle zvláštních právních předpisů
http://linked.open...titaPredkladatele	Masarykova univerzita / Přírodovědecká fakulta
http://linked.open...dnocenehoVysledku	680686
http://linked.open...ai/riv/idVysledku	RIV/00216224:14310/01:00005020
http://linked.open...riv/jazykVysledku	eng - angličtina
http://linked.open.../riv/klicovaSlova	Four novel germline BRCA1 and BRCA2 mutations in breast and breast-ovarian cancer (en)
http://linked.open.../riv/klicoveSlovo	Four novel germline BRCA1 and BRCA2 mutations in breast and breast-ovarian cancer
http://linked.open...odStatuVydavatele	GB - Spojené království Velké Británie a Severního Irska
http://linked.open...ontrolniKodProRIV	[48F680B2B24B]
http://linked.open...i/riv/nazevZdroje	Human Mutation
http://linked.open...in/vavai/riv/obor	EB
http://linked.open...ichTvurcuVysledku	1 (xsd:int)
http://linked.open...cetTvurcuVysledku	4 (xsd:int)
http://linked.open...ocetUcastnikuAkce	0 (xsd:int)
http://linked.open...nichUcastnikuAkce	0 (xsd:int)
http://linked.open...vavai/riv/projekt	BIOMOLECULAR CENTER
http://linked.open...UplatneniVysledku	2001
http://linked.open...v/svazekPeriodika	18
http://linked.open...iv/tvurceVysledku	Damborský, Jiří Foretová, Lenka Macháčková, Eva Valík, Dalibor
number of pages	5 (xsd:int)
http://localhost/t...ganizacniJednotka	14310

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