Advocate uses genetic history to increase knowledge of hereditary cancer risk

By | April 11, 2015

The 33-year-old mother who has tested positive for the BRCA2 cancer gene is one of 12 people in her family over three generations linked to the gene or diagnosed with cancer.

Now Koszegi is using her family’s genetic history to contribute to cancer research, prevention and treatment — with the aim of improving the quality of life for those facing hereditary risk.

“Cancer has always been part of my life,” said Koszegi, owner of Brushed Inc., a professional makeup, hair and wardrobe styling business. “Even though it has always been there, I want to aggressively monitor and protect my health and be my own advocate, and I want the same for my family members.”

Koszegi’s efforts began with enrolling herself and her cousins in the Gilda Radner Hereditary Cancer Program, part of the Women’s Cancer Program at the Cedars-Sinai Samuel Oschin Comprehensive Cancer Institute.

Founded in 1991, the program consists of several research studies for women at higher risk for breast and ovarian cancer.

Led by Beth Y. Karlan, MD, the program works to gain a better understanding of the relationship of genes to the growth of specific cancers, and to understand why some mutation carriers develop breast, ovarian and other types of cancer, while other mutation carriers do not.

“Family is an essential part of our program,” said Karlan, director of the Women’s Cancer Program.

Koszegi traces her family’s history of cancer to her maternal grandfather and his siblings. In all, five of the seven siblings were diagnosed with breast or prostate cancer.

Prostate cancer claimed the life of Koszegi’s grandfather. Two of his daughters — including Koszegi’s mother and aunt — were diagnosed with breast cancer. Her mother died from the disease at 58 and her aunt is in remission.

Of the family’s current generation, six women, including Koszegi, have tested positive for the BRCA2 gene mutation, putting them at a higher risk for developing breast and ovarian cancer. No male cousins have been tested, though they each have young daughters. Koszegi’s 5-year-old son also is too young to be tested.

Koszegi looks forward to recruiting additional family members to the Gilda Radner Hereditary Cancer Program.

“I want to know why the BRCA mutation is so strong in my family,” she said.

More Information About Rachel Koszegi

With her family’s support, Rachel Koszegi underwent a prophylactic mastectomy in July 2014 to cut her risk of being diagnosed with breast cancer and in the future, plans to undergo a prophylactic oophorectomy to decrease her risks of ovarian cancer.

“The decision and process of undergoing prophylactic surgery was tough, but worth it,” said Koszegi.

And somehow in the midst of her busy schedule, Koszegi has found time to raise even more awareness — this time, outside of only her family. She’s embarking in a new organization that she and three female cousins created to shift the focus from the ugliness of cancer to the lives of women with the disease and their personal stories.

source : http://www.sciencedaily.com/releases/2015/04/150410095529.htm