Surgically treated ovarian endometriosis association with BRCA1 and BRCA2 mutations

Sarit Aviel-Ronen, David Soriano, Elyasaf Shmuel, Ron Schonman, Kinneret Rosenblatt, Oranit Zadok, Aya Vituri, Daniel Seidman, Iris Barshack, Yoram Cohen*

*Corresponding author for this work

Research output: Contribution to journalArticlepeer-review


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.

Original languageEnglish
Pages (from-to)250-255
Number of pages6
JournalPathology Research and Practice
Issue number4
StatePublished - Apr 2014


FundersFunder number
Talpiot Medical Leadership Program
Israel Cancer Research Fund
Israel Science Foundation1716/08


    • BRCA1
    • BRCA2
    • Endometriosis
    • Ovarian cancer


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