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Fertility and Breast Cancer

a blog by Elena Trukhacheva, M.D., Reproductive Medicine Institute, August 20, 2013

This past summer brought the news that Angelina Jolie had undergone prophylactic double mastectomy after discovering that she carried the BRCA 1 gene, associated with significantly higher risks for Breast and Ovarian Cancer, responsible for the early death of her Mother and Grandmother. This action goes a long way in protecting Jolie from succumbing to Breast and Ovarian Cancer, but does not address the possibility that she has may have unknowingly passed on the defective genes to her young daughters and son.

Preimplantation Genetic Diagnosis (PGD) is an outstanding way to help families eradicate genetic diseases and/or the genetic component of a disease such as hereditary Breast Cancer, ovarian cancer, and prostate cancer” says Elena Trukhacheva MD, MSCI and partner in Reproductive Medicine Institute ( in Chicago. “Rather than facing the issue of what to do when you know you carry a gene, medicine and technology have come up with solutions so that generations to come may not even have to make those difficult decision.” In families that carry BRCA 1 or BRCA 2 genes, not only the girls are more likely to develop breast and ovarian cancer, but the boys are also more likely to suffer from prostate cancer. The boys can also “give” these genes to their daughters, passing along the disease through generations.

When BRCA1 or 2 runs in the family, careful monitoring can promote early detection and treatment of cancer, and improve survival. Preventative surgery, the route Angelina Jolie took, can significantly reduce the chances of cancer in the future by 90% or more. However, pre-implantation genetic diagnosis can actually be the least invasive, and least traumatic strategy, both emotionally and physically. PGD can also do something even more important…eliminate the mutated genes and transform the ‘high risk’ families into ‘normal ‘ones.

First, individual genetic testing must be done through a simple blood test to determine whether BRCA 1 or 2 is present. Once the specific genes are identified, screening of embryos for these mutations became possible through IVF with PGD. When IVF is combined with PGD, the embryos can be created and tested for specific mutations, including BRCA 1 and 2, and only mutation-free embryos used for transfer in the future.

By utilizing this approach, generations to come can thank their parents for passing on healthy genes and avoiding difficult decisions, and disease, in the future.
We’ve come a long way. Pass it on!


As one of the field’s devoted female reproductive endocrinologists, Elena Trukhacheva, MD, MSCI, demonstrates a unique rapport and understanding of her patients. As a woman and a mother, she takes pride in providing comprehensive care and strives to bring hope and support to her patients. Dr. Trukhacheva is Board Certified in the specialty of obstetrics and gynecology and in the subspecialty of reproductive endocrinology and infertility.

Dr. Elena Trukhacheva has devoted her professional life to academic medicine, research, and clinical practice in the field of Reproductive Endocrinology and Infertility. She received her medical degree from the Russian State Medical University in Moscow, Russia. She graduated magna cum laude in 2000 and received multiple awards for research and academic excellence during her studies. Dr. Trukhacheva completed her residency in Obstetrics and Gynecology at Baylor College of Medicine, consistently rated among the top medical schools in the country.

Following her residency, Dr. Trukhacheva entered a three-year fellowship in Reproductive Endocrinology and Infertility at Northwestern University in Chicago. During her fellowship she also received a Master of Science degree in Clinical Investigation. She has formal training in biostatistics, epidemiology, and design of the clinic.

Dr. Trukhacheva is a speaker for the American College of Obstetrics and Gynecology. She also serves as a reviewer for the Fertility and Sterility journal and is a member of the nominating committee for the Preimplantation Genetic Diagnosis International Society (PGDIS). She is actively involved in teaching medical students and OBGYN residents at the Midwestern University and at the Illinois Masonic Medical Center.

Her clinical interests include Invitro fertilization, previous IVF failures, special approaches for poor responders, prenatal genetic screening and diagnosis, as well as advanced laparoscopic and hysteroscopic gynecologic surgery.

Dr. Trukhacheva is fluent in English, Russian, and Ukrainian. A native of Russia, she now calls Chicago home.


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