domingo, 28 de enero de 2018

Multi-gene Panel Testing in Breast Cancer Management. - PubMed - NCBI

Multi-gene Panel Testing in Breast Cancer Management. - PubMed - NCBI



 2018;173:121-140. doi: 10.1007/978-3-319-70197-4_8.

Multi-gene Panel Testing in Breast Cancer Management.

Abstract

Hereditary predisposition accounts for approximately 10% of all breast cancers and is mostly associated with germline mutations in high-penetrance genes encoding for proteins participating in DNA repair through homologous recombination (BRCA1 and BRCA2). With the advent of massive parallel next-generation DNA sequencing, simultaneous analysis of multiple genes with a short turnaround time and at a low cost has become possible. The clinical validity and utility of multi-gene panel testing is getting better characterized as more data on the significance of moderate-penetrance genes are collected from large, cancer genetic testing studies. In this chapter, we attempt to provide a general guide for interpretation of panel gene testing in breast cancer and use of the information obtained for clinical decision-making.

KEYWORDS:

BRCA1/2; Deleterious mutations; Gene panel testing; Hereditary breast cancer syndrome; Penetrance; Prevention

PMID:
 
29349761
 
DOI:
 
10.1007/978-3-319-70197-4_8

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