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rdf:type
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Description
| - The mutational spectra of BRCA1 and BRCA2 include many high-penetrance, individually rare genomic rearrangements. Among patients with breast cancer and severe family histories of cancer who test negative (wild type) for BRCA1 and BRCA2, approximately 12% can be expected to carry a large genomic deletion or duplication in one of these genes, and approximately 5% can be expected to carry a mutation in CHEK2 or TP53. Effective methods for identifying these mutations should be made available to women at high risk.
- The mutational spectra of BRCA1 and BRCA2 include many high-penetrance, individually rare genomic rearrangements. Among patients with breast cancer and severe family histories of cancer who test negative (wild type) for BRCA1 and BRCA2, approximately 12% can be expected to carry a large genomic deletion or duplication in one of these genes, and approximately 5% can be expected to carry a mutation in CHEK2 or TP53. Effective methods for identifying these mutations should be made available to women at high risk. (en)
- Spektrum mutací v BRCA1 a BRCA2 genu zahrnuje řadu vysoce penetrantních genomických přeskupení s vzácným výskytem. Mezi pacienty s karcinomem prsu se závažnou rodinnou anamnézou s výskytem karcinomů v rodině, kteří byli negativně testováni na BRCA1 a BRCA2 (wild type), přibližně v 12% lze očekávat, že nesou rozsáhlé genomické delece nebo duplikace v jednom z těchto genů, přibližně v 5% lze očekávat mutaci v CHEK2 nebo TP53 genu. Efektivní metody pro identifikaci těchto mutací by měly být dostupné pro ženy s vysokým rizikem. (cs)
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Title
| - Spectrum of mutations in BRCA1, BRCA2, CHEK2, and TP53 in families at high risk of breast cancer
- Spectrum of mutations in BRCA1, BRCA2, CHEK2, and TP53 in families at high risk of breast cancer (en)
- Spektrum mutací v BRCA1, BRCA2, CHEK2 a TP53 v rodinách s vysokým rizikem karcinomu prsu (cs)
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skos:prefLabel
| - Spectrum of mutations in BRCA1, BRCA2, CHEK2, and TP53 in families at high risk of breast cancer
- Spectrum of mutations in BRCA1, BRCA2, CHEK2, and TP53 in families at high risk of breast cancer (en)
- Spektrum mutací v BRCA1, BRCA2, CHEK2 a TP53 v rodinách s vysokým rizikem karcinomu prsu (cs)
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skos:notation
| - RIV/00209805:_____/06:0000027!RIV07-MZ0-00209805
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http://linked.open.../vavai/riv/strany
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http://linked.open...avai/riv/aktivita
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http://linked.open...avai/riv/aktivity
| - P(OC B20.001), Z(MZ0MOU2005)
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http://linked.open...iv/cisloPeriodika
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http://linked.open...vai/riv/dodaniDat
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http://linked.open...aciTvurceVysledku
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http://linked.open.../riv/druhVysledku
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http://linked.open...iv/duvernostUdaju
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http://linked.open...titaPredkladatele
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http://linked.open...dnocenehoVysledku
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http://linked.open...ai/riv/idVysledku
| - RIV/00209805:_____/06:0000027
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http://linked.open...riv/jazykVysledku
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http://linked.open.../riv/klicovaSlova
| - breast cancer, mutations BRCA1, BRCA2, CHEK2, TP53 (en)
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http://linked.open.../riv/klicoveSlovo
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http://linked.open...odStatuVydavatele
| - US - Spojené státy americké
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http://linked.open...ontrolniKodProRIV
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http://linked.open...i/riv/nazevZdroje
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http://linked.open...in/vavai/riv/obor
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http://linked.open...ichTvurcuVysledku
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http://linked.open...cetTvurcuVysledku
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http://linked.open...vavai/riv/projekt
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http://linked.open...UplatneniVysledku
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http://linked.open...v/svazekPeriodika
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http://linked.open...iv/tvurceVysledku
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http://linked.open...n/vavai/riv/zamer
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issn
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number of pages
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