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Hereditary Cancer in Clinical Practice
Article . 2010 . Peer-reviewed
License: Springer TDM
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Hereditary Cancer in Clinical Practice
Article
License: CC BY
Data sources: UnpayWall
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PubMed Central
Other literature type . 2010
License: CC BY
Data sources: PubMed Central
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High penetrances of BRCA1 and BRCA2 mutations confirmed in a prospective series

Authors: Møller Pål; Mæhle Lovise; Engebretsen Lars F; Ludvigsen Trond; Jonsrud Christoffer; Apold Jaran; Vabø Anita; +1 Authors

High penetrances of BRCA1 and BRCA2 mutations confirmed in a prospective series

Abstract

Penetrances of BRCA1 and BRCA2 mutations have been derived from retrospective studies, implying the possibility of ascertainment biases to influence the results.We have followed women at risk for breast and/or ovarian cancer for two decades, and report the prospectively observed age-related annual incidence rates to contract breast or ovarian cancer for women with deleterious BRCA1 or BRCA2 mutations based on 4830 observation years. Patients were grouped according to mutation, age and having/not having had previous cancer.In women not having had previous cancer and aged 40-59 years, the annual incidence rate to contract breast or ovarian cancer in those having the most frequent BRCA1 founder mutations was 4.0%, for women in this age group and with less frequent BRCA1 mutations annual incidence rate was 5.9%, and for women with BRCA2 mutations 3.5%.The observed figures may be used for genetic counseling of healthy mutation carriers in the respective age groups. The results may indicate that less frequent BRCA1 mutations have higher penetrances than BRCA1 founder mutations.

Keywords

Research, Genetics, Neoplasms. Tumors. Oncology. Including cancer and carcinogens, QH426-470, RC254-282

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    This indicator reflects the "current" impact/attention (the "hype") of an article in the research community at large, based on the underlying citation network.
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    impulse
    This indicator reflects the initial momentum of an article directly after its publication, based on the underlying citation network.
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citations
This is an alternative to the "Influence" indicator, which also reflects the overall/total impact of an article in the research community at large, based on the underlying citation network (diachronically).
BIP!Citations provided by BIP!
popularity
This indicator reflects the "current" impact/attention (the "hype") of an article in the research community at large, based on the underlying citation network.
BIP!Popularity provided by BIP!
influence
This indicator reflects the overall/total impact of an article in the research community at large, based on the underlying citation network (diachronically).
BIP!Influence provided by BIP!
impulse
This indicator reflects the initial momentum of an article directly after its publication, based on the underlying citation network.
BIP!Impulse provided by BIP!
7
Average
Top 10%
Average
Green
gold