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First BRCA1 and BRC...
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Arver, BritaKarolinska Institutet
(författare)
First BRCA1 and BRCA2 gene testing implemented in the health care system of Stockholm
- Artikel/kapitelEngelska2001
Förlag, utgivningsår, omfång ...
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Mary Ann Liebert Inc,2001
Nummerbeteckningar
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LIBRIS-ID:oai:lup.lub.lu.se:272c9267-1bed-4a61-bc49-9ff4e24d8c21
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https://lup.lub.lu.se/record/1119279URI
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https://doi.org/10.1089/109065701750168581DOI
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http://kipublications.ki.se/Default.aspx?queryparsed=id:1945088URI
Kompletterande språkuppgifter
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Språk:engelska
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Sammanfattning på:engelska
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Ämneskategori:art swepub-publicationtype
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Ämneskategori:ref swepub-contenttype
Anmärkningar
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The aim of the study was to optimize the criteria for the BRCA1 and BRCA2 gene testing and to improve oncogenetic counseling in the Stockholm region. Screening for inherited breast cancer genes is laborious and a majority of tested samples turn out to be negative. The frequencies of mutations in the BRCA1 and BRCA2 genes differ across populations. Between 1997 and 2000, 160 families with breast and/or ovarian cancer were counseled and screened for mutations in the two genes. Twenty-five BRCA1 and two BRCA2 disease-causing mutations were found. Various factors associated with the probability of finding a BRCA1 mutation in the families were estimated. Age of onset in different generations and other malignancies were also studied. Families from our region in which both breast and ovarian cancer occur were likely to carry a BRCA1 mutation (34%). In breast-only cancer families, mutations were found only in those with very early onset. All breast-only cancer families with a mutation had at least one case of onset before 36 years of age and a young median age of onset (< 43 years). Other malignancies than breast and ovarian cancers did not segregate in the BRCA1 families and surveillance for other malignancies is not needed, in general. Decreasing age of onset with successive generations was common and must be taken into account when surveillance options are considered.
Ämnesord och genrebeteckningar
Biuppslag (personer, institutioner, konferenser, titlar ...)
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Borg, ÅkeLund University,Lunds universitet,Bröstcancer-genetik,Sektion I,Institutionen för kliniska vetenskaper, Lund,Medicinska fakulteten,Breastcancer-genetics,Section I,Department of Clinical Sciences, Lund,Faculty of Medicine(Swepub:lu)onk-abo
(författare)
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Lindblom, AnnikaKarolinska Institutet
(författare)
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Karolinska InstitutetBröstcancer-genetik
(creator_code:org_t)
Sammanhörande titlar
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Ingår i:Genetic Testing: Mary Ann Liebert Inc5:1, s. 41282-412821557-74731090-6576
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