TY - JOUR
T1 - BRCAmut and "founder effect"
T2 - A prospective study in a single academic institution
AU - Loizzi, Vera
AU - Cicinelli, Ettore
AU - Santamaria, Francesco
AU - Murgia, Ferdinando
AU - Minicucci, Valentina
AU - Resta, Leonardo
AU - Resta, Nicoletta
AU - Natalicchio, Maria Iole
AU - Ranieri, Girolamo
AU - Cormio, Gennaro
PY - 2018/4/27
Y1 - 2018/4/27
N2 - Introduction: About 25% of ovarian cancers can be classified as hereditary. Of these, 80-90% are correleted with the Hereditary Breast-Ovarian Cancer Syndrome (HBOC), which is linked to BRCA 1/2 genes mutations. Our study was set up to study the BRCA-mutation incidence in Apulian population affected with ovarian cancer and to understand the characteristics of the ovarian disease BRCAmut-related. Results: One hundred and five Apulian patients affected by ovarian cancer with serous high grade histotype, were collected. Of these, 39% were carriers of BRCA 1/2 mutation. BRCAmut patients present a lower median age of onset, a lower percentage of neoplasms in advanced stages and a lower mortality than wild type patients; BRCAmutated patients have longer mean values of Progression Free Survival (PFS) and Overall Survival (OS). Conclusions: Apulia is a geographical area with a significant BRCA-mutation incidence variation in the population affected by ovarian cancer. BRCAmut-related ovarian disease is characterized by an earlier median age of onset, an earlier diagnosis and a better outcome than the sporadic disease. Materials and Methods: From July 2015 to October 2017, all ovarian cancer patients with serous high grade histotype referred to our Institution were prospectly collected. A BRCA-mutation genetic testing after counselling was offered to all of these patients. Clinical characteristics of all ovarian cancer patients were evaluated. Survival curves were estimated by Kaplan-Meier method and compared with log-rank test.
AB - Introduction: About 25% of ovarian cancers can be classified as hereditary. Of these, 80-90% are correleted with the Hereditary Breast-Ovarian Cancer Syndrome (HBOC), which is linked to BRCA 1/2 genes mutations. Our study was set up to study the BRCA-mutation incidence in Apulian population affected with ovarian cancer and to understand the characteristics of the ovarian disease BRCAmut-related. Results: One hundred and five Apulian patients affected by ovarian cancer with serous high grade histotype, were collected. Of these, 39% were carriers of BRCA 1/2 mutation. BRCAmut patients present a lower median age of onset, a lower percentage of neoplasms in advanced stages and a lower mortality than wild type patients; BRCAmutated patients have longer mean values of Progression Free Survival (PFS) and Overall Survival (OS). Conclusions: Apulia is a geographical area with a significant BRCA-mutation incidence variation in the population affected by ovarian cancer. BRCAmut-related ovarian disease is characterized by an earlier median age of onset, an earlier diagnosis and a better outcome than the sporadic disease. Materials and Methods: From July 2015 to October 2017, all ovarian cancer patients with serous high grade histotype referred to our Institution were prospectly collected. A BRCA-mutation genetic testing after counselling was offered to all of these patients. Clinical characteristics of all ovarian cancer patients were evaluated. Survival curves were estimated by Kaplan-Meier method and compared with log-rank test.
KW - BRCA 1-2
KW - Ovarian cancer
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U2 - 10.18632/oncotarget.24959
DO - 10.18632/oncotarget.24959
M3 - Article
AN - SCOPUS:85046109114
VL - 9
SP - 22353
EP - 22358
JO - Oncotarget
JF - Oncotarget
SN - 1949-2553
IS - 32
ER -