I Carnevali1, C Riva2, A M Chiaravalli3, N Sahnane2, E Di Lauro4, A Viel5, F Rovera6, G Formenti7, F Ghezzi8, F Sessa2, M G Tibiletti3. 1. Department of Pathology, Ospedale di Circolo, ASST-Sette Laghi, Via O. Rossi 9, 21100 Varese, Italy; Research Center for the Study of Hereditary and Familial Tumors, Department of Medicine and Surgery, University of Insubria, Varese, Italy. Electronic address: ileana.carnevali@asst-settelaghi.it. 2. Research Center for the Study of Hereditary and Familial Tumors, Department of Medicine and Surgery, University of Insubria, Varese, Italy; Department of Medicine and Surgery, University of Insubria, Varese, Italy. 3. Department of Pathology, Ospedale di Circolo, ASST-Sette Laghi, Via O. Rossi 9, 21100 Varese, Italy; Research Center for the Study of Hereditary and Familial Tumors, Department of Medicine and Surgery, University of Insubria, Varese, Italy. 4. Department of Pathology, Ospedale di Circolo, ASST-Sette Laghi, Via O. Rossi 9, 21100 Varese, Italy. 5. Unit of Functional Onco-genomics and Genetics, Centro di Riferimento Oncologico di Aviano (CRO) IRCCS, Aviano, PN, Italy. 6. Research Center for the Study of Hereditary and Familial Tumors, Department of Medicine and Surgery, University of Insubria, Varese, Italy; Breast Unit Ospedale di Circolo, ASST Settelaghi, Varese, Italy. 7. Department of Obstetrics and Gynaecology, Ospedale F.Del Ponte, ASST Settelaghi, Varese, Italy. 8. Research Center for the Study of Hereditary and Familial Tumors, Department of Medicine and Surgery, University of Insubria, Varese, Italy; Department of Obstetrics and Gynaecology, Ospedale F.Del Ponte, ASST Settelaghi, Varese, Italy.
Abstract
BACKGROUND: A subsets of ovarian carcinomas (OCs) are related to inherited conditions including Hereditary Breast and Ovarian Cancers (HBOC) and Lynch Syndrome (LS). The identification of inherited conditions using genetic testing might be a strategic model for cancer prevention that include benefits for the ovarian cancer patients and for their family members. METHODS: We describe a retrospective Italian experience for the identification of inherited conditions in 232 patients affected by OCs using both somatic and germline analyses. RESULTS: Immunohistochemical and microsatellite analyses performed on OCs identified 20 out of 101 MMR defective cancers and 15 of these were from patients carriers of the MMR germline pathogenetic variants. BRCA1 and BRCA2 testing offered to 198 OC patients revealed 67 (34%) pathogenetic variant carriers of BRCA1/2 genes. Interestingly LS patients revealed a mean age of OC onset of 45.4 years, which was significantly lower than the mean age of OCs onset of HBOC patients. CONCLUSIONS: Somatic and germline analyses offered to OC patients has proved to be an efficient strategy for the identification of inherited conditions involving OC also in absence of suggestive family histories. The identification of LS and HBOC syndromes through OC patients is an effective tool for OC prevention.
BACKGROUND: A subsets of ovarian carcinomas (OCs) are related to inherited conditions including Hereditary Breast and Ovarian Cancers (HBOC) and Lynch Syndrome (LS). The identification of inherited conditions using genetic testing might be a strategic model for cancer prevention that include benefits for the ovarian cancerpatients and for their family members. METHODS: We describe a retrospective Italian experience for the identification of inherited conditions in 232 patients affected by OCs using both somatic and germline analyses. RESULTS: Immunohistochemical and microsatellite analyses performed on OCs identified 20 out of 101 MMR defective cancers and 15 of these were from patients carriers of the MMR germline pathogenetic variants. BRCA1 and BRCA2 testing offered to 198 OC patients revealed 67 (34%) pathogenetic variant carriers of BRCA1/2 genes. Interestingly LS patients revealed a mean age of OC onset of 45.4 years, which was significantly lower than the mean age of OCs onset of HBOCpatients. CONCLUSIONS: Somatic and germline analyses offered to OC patients has proved to be an efficient strategy for the identification of inherited conditions involving OC also in absence of suggestive family histories. The identification of LS and HBOC syndromes through OC patients is an effective tool for OC prevention.
Authors: Amit Atwal; Tristan Snowsill; Marcus Cabrera Dandy; Thomas Krum; Claire Newton; Dafydd Gareth Evans; Emma J Crosbie; Neil A J Ryan Journal: Int J Cancer Date: 2022-07-06 Impact factor: 7.316