The clinical utility of genetic testing in breast cancer kindreds: a prospective study in families without a demonstrable BRCA mutation
| Autor: | Lovise Maehle, Anita Vabø, Marit Muri Holmen, Astrid Stormorken, Anne Irene Hagen, Pål Møller |
|---|---|
| Jazyk: | angličtina |
| Předmět: |
Oncology
Adult Risk medicine.medical_specialty Cancer Research Population Family history BRCA Genes BRCA2 Genes BRCA1 Breast Neoplasms Breast cancer Internal medicine medicine Humans Genetic Testing Prospective Studies First-degree relatives education Prospective cohort study skin and connective tissue diseases Genetic testing education.field_of_study medicine.diagnostic_test business.industry Norway Incidence BRCA mutation Middle Aged medicine.disease Clinical Trial Mutation SIR Screening Hereditary Breast and Ovarian Cancer Syndrome Female Population Risk business Mammography Follow-Up Studies |
| Zdroj: | Breast Cancer Research and Treatment |
| ISSN: | 0167-6806 |
| DOI: | 10.1007/s10549-014-2902-1 |
| Popis: | We report prospectively observed risk for breast cancer in breast cancer kindreds without a demonstrable BRCA1/2 mutation. According to family history, the optimal available member(s) of each breast cancer kindred attending our clinic was tested for BRCA mutations. Women in families without a demonstrable BRCA mutation were subjected to annual mammography. BRCA mutations were demonstrated in 496/2,118 (23 %) breast cancer kindreds. In families without a demonstrable BRCA mutation, a total of 3,161 healthy women aged 25–59 years were prospectively followed for 24,808 observation years. Sixty-four cancers were observed, compared to 34.0 expected (p 0.05). Excluding these, cumulative risk at 60 years was 8.8 % (RR = 2.2). The highest cumulative risk at 60 years was 11.4 %, found in families with two cases ≤55 years (RR = 2.8). In breast cancer kindreds without a demonstrable BRCA mutation, the risk for breast cancer in female first degree relatives was about twice the risk in the general population. Women with one early affected relative only did not have increased risk for early onset breast cancer, while those with more than one young affected relative had close to three times population risk. |
| Databáze: | OpenAIRE |
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