Related Experiment Video
Updated: Jan 5, 2026
In Vivo and Ex Vivo Approaches to Study Ovarian Cancer Metastatic Colonization of Milky Spot Structures in Peritoneal Adipose
Published on: October 14, 2015
The clinical features associated with mutated BRCA1 and 2 genes in ovarian cancer patients
Paul Kubelac1, Catalin Vlad, Ioana Berindan Neagoe
1Department of Medical Oncology, The Oncology Institute "Prof. Dr. Ion Chiricuta", Cluj-Napoca, Romania.
Purpose:
The treatment of ovarian cancer continues to pose a challenge especially through the development of platinum-resistant disease and still has the highest mortality rate among gynecologic cancers. Patients are usually diagnosed with advanced stages where complete cytoreduction and standard platinum-based chemotherapy are the mainstay of treatment. Advances into the molecular underpinnings of DNA damage repair highlighted BRCA 1/2 and other related genes as key regulators of platinum sensitivity. Our study characterizes clinical features and outcomes associated with BRCA mutations in a cohort of ovarian cancer patients.
Methods:
Patient data from our Institute was retrospectively extracted for all patients that were tested for the presence of BRCA germline or somatic mutations through next generation sequencing between May 2016 and August 2018.
Results:
Eighty-eight patients were included in the present analysis. Advanced FIGO stage IIIC-IV was common at presentation (71.6%), with 58% of patients undergoing primary debulking surgery. BRCA mutant cases represented 44% and were associated with a significantly higher frequency for complete pathologic response, first and second platinum sensitive relapse and a significantly longer overall survival for advanced stage cases treated with neoadjuvant chemotherapy. Mean age at presentation was significantly lower in the BRCA mutated (52 years) compared to BRCA wildtype patients (54.2 years, p=0.045).
Conclusions:
Upfront knowledge of BRCA status is encouraged, given the recent advent of targeted therapies and for the decision regarding optimal sequence of available therapeutic strategies.
More Related Videos
09:08Integration of Bioinformatics Approaches and Experimental Validations to Understand the Role of Notch Signaling in Ovarian Cancer
Published on: January 12, 2020
10:27Testing Targeted Therapies in Cancer using Structural DNA Alteration Analysis and Patient-Derived Xenografts
Published on: July 25, 2020
Related Concept Videos
01:33Cancer-Critical Genes I: Proto-oncogenes
When the function of certain critical genes, especially those involved in cell cycle regulation and cell growth signaling cascades, gets disrupted, it upsets the cell cycle progression. Such cells with unchecked cell cycles start proliferating uncontrollably and eventually develop into tumors.
Such genes that act...
01:05Cancer-Critical Genes II: Tumor Suppressor Genes
When the function of certain critical genes, especially those involved in cell cycle regulation and cell growth signaling cascades, gets disrupted, it upsets the cell cycle progression. Such cells with unchecked cell cycles start proliferating uncontrollably and eventually develop into tumors.
Such genes that act...
02:21Cancers Originate from Somatic Mutations in a Single Cell
01:20The Retinoblastoma Gene
The first-ever tumor suppressor gene called Rb was identified in retinoblastoma - a rare eye tumor in children. In inherited forms of the disease, a child inherits one defective copy of the Rb gene, which predisposes them to retinoblastoma. However,...
02:07Oogenesis
01:12Loss of Tumor Suppressor Gene Functions
When the tumor suppressor genes develop mutations or are lost, cells start growing out of control, leading to cancer. However, a single functional copy of the tumor suppressor gene is enough for the cells to maintain their normal functions and cell...