RT Journal Article
SR Electronic
T1 Ovarian cancer predisposition beyond BRCA1 and BRCA2 genes
JF International Journal of Gynecologic Cancer
JO Int J Gynecol Cancer
FD BMJ Publishing Group Ltd
SP ijgc-2020-001556
DO 10.1136/ijgc-2020-001556
A1 Antonella Pietragalla
A1 Martina Arcieri
A1 Claudia Marchetti
A1 Giovanni Scambia
A1 Anna Fagotti
YR 2020
UL http://ijgc.bmj.com/content/early/2020/09/03/ijgc-2020-001556.abstract
AB Several genes associated with hereditary ovarian cancer have been discovered as a result of the work done with next generation sequencing. It is estimated that approximately 23% of ovarian carcinomas have a hereditary predisposition. The most common hereditary condition is represented by germline mutations in BRCA1 or BRCA2 genes that account for 20–25% of high grade serous ovarian cancer. A number of other hereditary ovarian cancers are associated with different genes, with a crucial role in the DNA damage response pathway, such as the mismatch repair genes in Lynch syndrome, TP53 in Li-Fraumeni syndrome, STK11 in Peutz-Jeghers syndrome, CHEK2, RAD51, BRIP1, and PALB2. The goal of this manuscript is to summarize the published data regarding the molecular pathways involved in the pathogenesis of non-BRCA related hereditary ovarian cancer and to provide a tool that might be useful in discussing risk assessment, genetic testing, prevention strategies, as well as clinical and therapeutic implications for patients with ovarian cancer.