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The usability of gene panels in the diagnosis of hereditary breast cancer

Bonasia, C (2016) The usability of gene panels in the diagnosis of hereditary breast cancer. Bachelor's Thesis, Biology.

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Worldwide many women are diagnosed with hereditary breast cancer. Breast cancer is characterized by a high mortality rate and therefore detection of hereditary breast cancer is important. The traditional method of mutation screening is Sanger sequencing with which first the BRCA1 and BRCA2 genes are analyzed for mutations and is proceeded to less likely genes when nothing is found. But mutated BRCA1 and BRCA2 account only for a small part as the cause of hereditary breast cancer and thus testing can be very time con-suming. Since the emergence of Next Generation Sequencing a new type of testing is introduced called gene panel testing. With gene panel testing a lot of genes related to hereditary breast cancer can be tested simultaneously. Many companies provide different panels for screening hereditary breast cancer. However, the utility of gene panel testing is not clear. The clinical significance of finding variants in the tested genes is questioned. Also little is known about the accuracy of detection and the gain of diagnoses compared to traditional testing. Furthermore, the increase of findings of which the association with breast cancer risk is unknown, which can result in confusion for the physician and patient is unclear. Because gene panel testing is already much used, it is important to get more clarity about these key questions. Therefore, in this review we will focus on the usability of gene panels in the molecular diagnosis of hereditary breast cancer. An overview will be given on genes related to high breast cancer risk, the analytical performance, gain of diagnoses and gain of variants of unknown clinical significance. Also, briefly will be talked about new found variants or genes that are associated to breast cancer which is the result of collecting data of gene panel testing.

Item Type: Thesis (Bachelor's Thesis)
Degree programme: Biology
Thesis type: Bachelor's Thesis
Language: English
Date Deposited: 15 Feb 2018 08:11
Last Modified: 15 Feb 2018 08:11

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