J Gynecol Oncol.  2017 Sep;28(5):e61. 10.3802/jgo.2017.28.e61.

Young Israeli women with epithelial ovarian cancer: prevalence of BRCA mutations and clinical correlates

• Helpman L
• Zidan O
• Friedman E
• Kalfon S
• Perri T
• Ben-Baruch G
• Korach J

• KMID: 2413221
• DOI: http://doi.org/10.3802/jgo.2017.28.e61

Abstract

OBJECTIVE
The current study investigates disease patterns and outcomes in young Israeli epithelial ovarian cancer (EOC) patients and their association with BRCA mutation status.
METHODS
Consecutive EOC patients diagnosed at or below 50 years in a single institution between 1995-2011 were identified. All patients are referred for genetic counseling and testing for the predominant Jewish BRCA mutations: BRCA1-185delAG, BRCA1-5382insC, and BRCA2-6174delT. A comparison between BRCA mutation carriers and non-carriers was undertaken across demographic, pathologic, and clinical features; recurrence and survival were compared using the Kaplan-Meier method and associations with the variables of interest were analyzed using the Cox proportional hazards method.
RESULTS
One hundred eighty-six patients diagnosed with EOC at 50 years or younger were included, with a total follow-up of 1,088 person years. Mean age at diagnosis was 44±5 years. Of 113 patients with documented BRCA testing, 49.6% carried a germline BRCA mutation, compared with 29% in the general Israeli EOC population (p=0.001). BRCA mutation carriers had a higher rate of serous tumors (75% vs. 64%, p=0.040) and higher CA125 levels at diagnosis (median, 401 vs. 157, p=0.001) than non-carriers. No significant association between BRCA mutations and recurrence (hazard ratio [HR]=1.03; p=0.940) or survival (HR=1.40; p=0.390) was found.
CONCLUSION
BRCA mutations are encountered in almost 50% of young Israeli ovarian cancer patients; they are associated with serous tumors and high CA125 levels at diagnosis, but are not independently associated with recurrence or survival in this patient population.

Keyword

BRCA1; BRCA2; Glandular and Epithelial Neoplasms; Ovarian Neoplasms; Young Adult; Women

MeSH Terms

Adult
Age Factors
BRCA2 Protein/*genetics
CA-125 Antigen/blood
Cohort Studies
Female
Genes, BRCA1
Genetic Counseling
Genotyping Techniques
Germ-Line Mutation/*genetics
Humans
Israel
Jews/genetics
Membrane Proteins/blood
Middle Aged
Neoplasm Recurrence, Local/genetics
Neoplasm Staging
Neoplasms, Glandular and Epithelial/*genetics/pathology
Ovarian Neoplasms/*genetics/pathology
Prognosis
Retrospective Studies
Survival Rate
Ubiquitin-Protein Ligases/*genetics
BRCA2 Protein
CA-125 Antigen
Membrane Proteins
Ubiquitin-Protein Ligases