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First BRCA1 and BRCA2 gene testing implemented in the health care system of Stockholm

Arver, Brita (författare)
Borg, Åke, (författare)
Lunds universitet, Lund University, Medicinska fakulteten, Faculty of Medicine, Institutionen för kliniska vetenskaper, Lund, Department of Clinical Sciences, Lund, Sektion V, Division V, Onkologi och Patologi, MV, Oncology and Pathology, MV
Lindblom, Annika (författare)
visa fler...
Borg, A (författare)
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Lunds universitet Onkologi och Patologi, MV. (creator_code:org_t)
2001
Engelska.
Ingår i: Genetic Testing. - Mary Ann Liebert, Inc.. - 1557-7473. ; 5:1, s. 41282-41282
  • Tidskriftsartikel (refereegranskat)
Abstract Ämnesord
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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

MEDICIN OCH HÄLSOVETENSKAP  -- Klinisk medicin -- Cancer och onkologi (hsv//swe)
MEDICAL AND HEALTH SCIENCES  -- Clinical Medicine -- Cancer and Oncology (hsv//eng)

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Av författaren/redakt...
Arver, Brita
Borg, Åke
Lindblom, Annika
Borg, A
Om ämnet
MEDICIN OCH HÄLSOVETENSKAP
MEDICIN OCH HÄLS ...
och Klinisk medicin
och Cancer och onkol ...
Artiklar i publikationen
Genetic Testing
Av lärosätet
Lunds universitet
Karolinska Institutet

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