Surgically treated ovarian endometriosis association with BRCA1 and BRCA2 mutations.
Endometriosis is associated with an increased risk of ovarian cancer. Few studies have also shown increased risk of breast cancer. BRCA1/2 mutations are linked to an increased risk of breast and ovarian cancers but their relation to endometriosis is unknown. The objective of this study was to examine the mutation rate of BRCA1/2 among women with surgically treated ovarian endometriosis. We collected 126 specimens from Jewish Ashkenazi women with endometriotic (76) and control non-endometriotic (50) ovarian cysts, reviewed the pathological diagnoses and extracted DNA from all samples. Using matrix-assisted laser desorption/ionization time-of-flight mass spectrometry (MALDI-TOF MS), samples were examined for the founder germline mutations of BRCA1/2, most common among Ashkenazi Jews. The rate of mutations in each group was calculated and compared. BRCA1/2 mutation rate was 1/76 (1.3%) in the endometriotic cyst study group and 1/50 (2%) in the control non-endometriotic cysts, showing no statistically significant difference between the groups (p=0.84). BRCA1/2 mutation rate was similar to the previously reported rate among Jewish Ashkenazi women. BRCA1/2 mutation rates in patients with endometriotic ovarian cysts and with non-endometriotic ovarian cysts are similar. A larger cohort is required to completely exclude the possibility of an association between BRCA1/2 mutations and surgically treated endometriosis.
Department of Pathology, Sheba Medical Center, Israel; Talpiot Medical Leadership Program, Sheba Medical Center, Israel.
Sarit
S
Aviel-Ronen
Department of Obstetrics and Gynecology, Sheba Medical Center, Israel; Sackler Faculty of Medicine, Tel Aviv University, Tel Aviv, Israel.
David
D
Soriano
Department of Obstetrics and Gynecology, Sheba Medical Center, Israel.
Elyasaf
E
Shmuel
Department of Obstetrics and Gynecology, Sheba Medical Center, Israel.
Ron
R
Schonman
Department of Pathology, Sheba Medical Center, Israel.
Kinneret
K
Rosenblatt
Department of Pathology, Sheba Medical Center, Israel.
Oranit
O
Zadok
Department of Statistics and Operations Research, Tel Aviv University, Tel Aviv, Israel.
Aya
A
Vituri
Department of Obstetrics and Gynecology, Sheba Medical Center, Israel.
Daniel
D
Seidman
Department of Pathology, Sheba Medical Center, Israel; Sackler Faculty of Medicine, Tel Aviv University, Tel Aviv, Israel.
Iris
I
Barshack
Department of Obstetrics and Gynecology, Sheba Medical Center, Israel; Sackler Faculty of Medicine, Tel Aviv University, Tel Aviv, Israel. Electronic address: ycohen1@gmail.com.
Yoram
Y
Cohen
D000328:Adult; D004252:DNA Mutational Analysis; D004715:Endometriosis / Q000235:genetics* / Q000601:surgery; D005260:Female; D019398:Genes, BRCA1; D024522:Genes, BRCA2; D018095:Germ-Line Mutation; D006801:Humans; D010048:Ovarian Cysts / Q000235:genetics / Q000601:surgery; D010049:Ovarian Diseases / Q000235:genetics* / Q000601:surgery; D019032:Spectrometry, Mass, Matrix-Assisted Laser Desorption-Ionization
BRCA1; BRCA2; Endometriosis; MALDI-TOF-MS; Ovarian cancer