Researchers at Hadassah Medical Organization in Israel have linked the essential role of the BRCA2 gene to puberty and healthy ovary development and function, announced Ellen Hershkin, National President, Hadassah, The Women’s Zionist Organization of America Inc., which owns two world-class research hospitals in Jerusalem.  The study published in the New England Journal of Medicine, reveals a new role for the BRCA2 gene and highlights its importance to the puberty process.

Dr. David Zangen, director of pediatric endocrinology at HMO is principal investigator of the study. His collaborative team includes Professor Levy-Lahad at Shaare Zedek Medical Center and Dr. Offer Gerlitz at the Hadassah-Hebrew University School of Medicine, both based in Jerusalem.

Dr. Zangen recalls the origin of the study: “A few years ago, a mother brought her teenage daughter to see me at HMO. … (I)n imaging studies no ovaries could be detected.  Fast forward a few years, and the girl’s sister came to see me and she, too, did not reach puberty, and she also had no ovaries.”

Through full gene sequencing, Dr. Zangen and his collaborative team discovered that both sisters had the same mutation of the BRCA2 gene.

Dr. Zangen and the team knew that BRCA2 has a crucial role in DNA repair and explains: “Throughout our lives, our bodies’ cells undergo cell division. When all goes well during this process, the DNA is copied exactly. But when it does not, the body must collect the mistakes and correct them.”

“Uncorrected mistakes can lead to cancer or to other disasters,” Dr. Zangen adds.  “And so, it was for these two sisters.  Because the correction failed to occur, they failed to develop ovaries.”