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Novel genomic tools increase accuracy of breast cancer risk assessment
Findings from the FinnGen study encompassing 120,000 women indicate that inherited breast cancer risk should be assessed in an increasingly comprehensive manner. Currently, only individual gene mutations are taken into consideration in breast cancer therapy and prevention. The study demonstrates that more extensive genomic data can be used to identify women who are at high risk of breast cancer with considerably greater accuracy. Such knowledge can especially improve risk assessment among the close relatives of breast cancer patients.
In women, breast cancer is the most commonly diagnosed cancer and the leading cause of cancer-related deaths. Genetic predisposition is one of the key risk factors associated with the disease.
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IMAGE: Clinical gene panel tests identify moderate-risk mutations (including mutations in the CHEK2 gene), and high-risk mutations (including mutations in genes PALB2, BRCA1, and BRCA2). However, moderate to high polygenic risk. view more
Credit: Nina Mars, University of Helsinki
In women, breast cancer is the most commonly diagnosed cancer and the leading cause of cancer-related deaths. Genetic predisposition is one of the key risk factors associated with the disease.
A study coordinated by University of Helsinki researchers examined the risk of developing the disease on both the population level and in individual carriers of specific gene defects which significantly increase breast cancer risk. The results, published today in the journal
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