AI Article Synopsis
- Breast cancer is the most common cancer in women, with 10% being hereditary, largely due to mutations in the BRCA1 and BRCA2 genes.
- Advances in gene panel testing allow for more comprehensive genetic analysis, aiming to provide personalized care.
- However, this approach is not yet suitable for general use because it produces many unclear results and tests genes that aren't currently helpful for management.
Article Abstract
Breast cancer is the most frequent cancer occurring in women. Ten percent of these cancers are considered hereditary. Among them, 30% are attributed to germline mutations in the tumor suppressor genes BRCA1 and BRCA2. Other genes of lower penetrance are also known, explaining together up to 40% of the hereditary risk of breast cancer. New techniques, such as next-generation sequencing, allow the simultaneous analysis of multiple genes in a cost-effective way. As a logical consequence, gene panel testing is entering clinical practice with the promise of personalized care. We however advocate that gene panel testing is not ready for non-specialist clinical use, as it generates many variants of unknown significance and includes more genes than are presently considered clinically useful. We hereby review the data for each gene that can change the risk management of patients carrying a pathogenic variant.
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| http://dx.doi.org/10.1016/j.critrevonc.2016.10.008 | DOI Listing |
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