Ovarian cancer remains the leading cause of death from gynecologic cancer [1, 2]. Epithelial carcinoma of the ovary represents a public health problem because of its considerable impact on morbidity and mortality being the 7th most common cancer and the 8th cause of cancer-related death in women worldwide [2,3,4].
Although cancer-related deaths have been decreasing in the last 5 decades for the majority of solid cancers, ovarian cancer survival does not show a significant improvement since about 1980 [3].
There is a multiplicity of histologic types of ovarian cancer; however, 90% of these are epithelial carcinomas [5].
The lifetime risk of ovarian epithelial carcinoma is 0.7% in sporadic cases; however, this risk is significantly increased in patients with familial or genetic predisposition (10-40%) [4, 6].
There are multiple well-established risk factors for ovarian cancer. One of the most important is BRCA germline mutation; nevertheless, other genomic mutations have been linked to this type of cancer as BARD1, CHEK2, MRE11A, RAD50, PALB2, and ATM mutations. Other known risk factors include familial history of cancer, early menarche, late menopause, nulliparous, obesity, diabetes, and smoking [3].
A scrupulous histopathologic evaluation of BRCA positive women has revealed that the majority of ovarian cancers in these patients are high-grade serous carcinomas (HGSC) [7]. In fact, they are associated with BRCA mutations in 15-17% of cases [4].
Thus, patients that carry the genetic mutation of the tumor suppressor gene BRCA1 or BRCA2 have a greater risk of developing a wide range of cancers, in particular ovarian and breast cancer. Moreover, 90% of BRCA-associated ovarian cancers will be HGSC of higher grade than sporadic ones [4, 8].
Approximately 40% of BRCA1 mutated patients may develop ovarian cancer and 17% of BRCA2-mutated patients may develop ovarian cancer by the age of 70 years old [4, 6, 7].
This increased risk is well established and has a paramount importance on cancer screening in this particular group of patients.
HGSC is also almost invariably associated with P53 mutation and genomic instability due to deficient DNA repair [3].
The recognition of patterns of disease is crucial to identify distinctive imaging features between disease forms that could be useful for predicting prognosis and therapeutic response and enabling us to provide valuable information for a possible personalized therapy and family counseling in the future [1, 9].
BRCA1 and BRCA2 are tumor suppressor genes located on chromosomes 17 and 13, respectively. These genes encode proteins that are responsible for genomic stability. The BRCA-mutated patients are incapable of repairing DNA damage that will lead to uncontrolled cell proliferation with tumor development [4].
Recent studies, both from the same group, suggested that the pattern of peritoneal disease distribution in HGSC is influenced by the BRCA mutation and that these variables may have an impact on treatment response and prognosis [10].
Computed tomography (CT) and magnetic resonance imaging (MRI) play a decisive role in the diagnosis and staging of ovarian neoplasms. Contrast-enhanced CT as an accuracy of 94% for ovarian cancer staging and is the current imaging modality of choice in the preoperative assessment of HGSG. It is an accurate method for identifying sites of disease involvement and for the assessment of resectability of ovarian cancer MRI has a reported equivalent accuracy to CT in predicting peritoneal tumor spread [11, 12].
Previous studies indicate that the mutation of the BRCA gene produces characteristic differences in the histology of ovarian serous carcinoma, but it is not clear whether these translate into morphological and radiological manifestations and, if so, that these can be safely identified. Furthermore, although some studies have demonstrated that CT features may help as useful predictors of cytoreductive outcome in HGSC, it is not known if these features differ depending on BRCA mutation status nor between different groups of BRCA-mutated patients (BRCA 1/2, ) [13,14,15,16].
Given the potential prognostic and therapeutic implications of BRCA mutation status is important to pursue imaging or histopathologic differences between distinct genetic mutated and wild-type ovarian cancers that could help us to provide an optimal personalized cancer treatment strategy. Our goal is to review the radiological and pathological features of all BRCA-associated HGSC cases while comparing them to a control group of non-BRCA-associated HGSC, aiming to investigate a possible association of its morphological patterns with the BRCA mutation status/type of mutation.