Ovarian cancer risk assessment in the era of next-generation sequencing

Renata Colombo Bonadio; Jéssica Rojas Crespo; Maria Del Pilar Estevez-Diz

doi:10.21037/atm-20-1582

Ovarian cancer risk assessment in the era of next-generation sequencing

Ann Transl Med. 2020 Dec;8(24):1704. doi: 10.21037/atm-20-1582.

Authors

Renata Colombo Bonadio^{1

2}, Jéssica Rojas Crespo¹, Maria Del Pilar Estevez-Diz^{1

2}

Affiliations

¹ Instituto do Cancer do Estado de São Paulo, Faculdade de Medicina do Estado de Sao Paulo, Sao Paulo, Brazil.
² Instituto D'Or de Ensino e Pesquisa, Oncologia D'Or, Sao Paulo, Brazil.

Abstract

Ovarian cancer is one of the cancers most influenced by hereditary factors. Testing for hereditary susceptibility genes is recommended for every woman with epithelial ovarian cancer (EOC). Pathogenic germline variants in BRCA1 and BRCA2 genes are responsible for a substantial fraction of hereditary ovarian cancer. However, alterations in other genes, such as BRIP1, RAD51C, RAD51D, and mismatch repair genes, also enhance ovarian cancer risk. Other genes may also participate in ovarian carcinogenesis, but their role as ovarian cancer susceptibility genes still needs to be clarified. With several genes involved, the complexity of genetic testing increases. In this context, next-generation sequencing (NGS) allows testing for multiple genes simultaneously, with rapid turn-around time. However, the incorporation of this technology into clinical practice faces some challenges. In this review, we will discuss the ovarian cancer risk assessment in the era of NGS.

Keywords: Ovarian cancer; cancer risk; hereditary; next-generation sequencing (NGS).

Publication types

Review