More than one- h of ovarian tumors have hereditary susceptibility and, in about 65–85% of these cases, the genetic abnormality is a germline mutation in BRCA genes. Nevertheless, several other suppressor genes and oncogenes have been associated with hereditary ovarian cancers, including the mismatch repair (MMR) genes in Lynch syndrome, the tumor suppressor gene, TP53, in the Li-Fraumeni syndrome, and several other genes involved in the double-strand breaks repair system, such as CHEK2, RAD51, BRIP1, and PALB2. e study of genetic discriminators and deregulated pathways involved in hereditary ovarian syndromes is relevant for the future development of molecular diagnostic strategies and targeted therapeutic approaches. e recent development and implementation of next-generation sequencing technologies have provided the opportunity to simultaneously analyze multiple cancer susceptibility genes, reduce the delay and costs, and optimize the molecular diagnosis of hereditary tumors. Particularly, the identi cation of mutations in ovarian cancer susceptibility genes in healthy women may result in a more personalized cancer risk management with tailored clinical and radiological surveillance, chemopreventive approaches, and/or prophylactic surgeries. On the other hand, for ovarian cancer patients, the identi cation of mutations may provide potential targets for biologic agents and guide treatment decision-making.
More than one-fifth of ovarian tumors have hereditary susceptibility and, in about 65–85% of these cases, the genetic abnormality
is a germline mutation in BRCA genes. Nevertheless, several other suppressor genes and oncogenes have been associated with
hereditary ovarian cancers, including the mismatch repair (MMR) genes in Lynch syndrome, the tumor suppressor gene, TP53, in
the Li-Fraumeni syndrome, and several other genes involved in the double-strand breaks repair system, such as CHEK2, RAD51,
BRIP1, and PALB2. The study of genetic discriminators and deregulated pathways involved in hereditary ovarian syndromes is
relevant for the future development ofmolecular diagnostic strategies and targeted therapeutic approaches.The recent development
and implementation of next-generation sequencing technologies have provided the opportunity to simultaneously analyzemultiple
cancer susceptibility genes, reduce the delay and costs, and optimize the molecular diagnosis of hereditary tumors. Particularly, the
identification of mutations in ovarian cancer susceptibility genes in healthy women may result in a more personalized cancer risk
management with tailored clinical and radiological surveillance, chemopreventive approaches, and/or prophylactic surgeries. On
the other hand, for ovarian cancer patients, the identification of mutations may provide potential targets for biologic agents and
guide treatment decision-making.
