PT  - JOURNAL ARTICLE
AU  - Antonella Pietragalla
AU  - Martina Arcieri
AU  - Claudia Marchetti
AU  - Giovanni Scambia
AU  - Anna Fagotti
TI  - Ovarian cancer predisposition beyond BRCA1 and BRCA2 genes
AID  - 10.1136/ijgc-2020-001556
DP  - 2020 Nov 01
TA  - International Journal of Gynecologic Cancer
PG  - 1803--1810
VI  - 30
IP  - 11
4099  - http://ijgc.bmj.com/content/30/11/1803.short
4100  - http://ijgc.bmj.com/content/30/11/1803.full
SO  - Int J Gynecol Cancer2020 Nov 01; 30
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.