Research follows DNA clues
Terry Searson, a retired Bergen County teacher, gave a vial of blood and a pile of personal medical information to researchers at the Cancer Institute of New Jersey for a study about genetic factors that play a role in the development of breast cancer.
She is one of the first 1,800 participants -- women and men, with and without breast cancer -- recruited for a study that aims to identify which gene mutations increase the likelihood that a pre-menopausal woman will develop a certain type of breast cancer.
“I don't know whether it's the educator in me or the mother in me,” said Searson, a River Vale resident who taught in the Harrington Park public schools for 36 years and has two adult daughters. She was diagnosed with breast cancer a month after her retirement in 2005, and has participated in other studies.
Led by Dr. Kim Hirshfield, the research at the Cancer Institute aims to identify tiny changes in the makeup of genes that predispose a woman to develop breast cancer. The majority of women diagnosed with breast cancer have no known risk factors and fewer than 10 percent carry mutations in the two genes known to increase the risk of breast cancer, BRCA1 and BRCA2.
“If we can identify who's at higher risk, we can offer screening strategies and prevention strategies” tailored to their needs, said Hirshfield, a Rutgers University graduate who has a Ph.D. in biochemistry from Johns Hopkins University and an M.D. from the University of Medicine and Dentistry of New Jersey-Robert Wood Johnson Medical School, specializing in medical oncology.
“Maybe starting screening at 40 isn't ideal for them,” she said. “Maybe they need different screening. That's where this information is becoming important.”
More than 192,000 women around the country are diagnosed with breast cancer each year, and 40,000 die. This year, more than 6,400 cases are expected in New Jersey, according to the American Cancer Society.
Breast cancer in women younger than 50 is harder to treat and more likely to result from genetic factors.
“If we are to achieve better results of treatment for patients with breast cancer, the choice of treatment must eventually benefit from a more precise understanding of the genetic abnormalities not only present in each individual's tumor, but also part of an individual's underlying makeup,” Hirshfield said. “Using the same dose of drug or amount of radiation for each breast cancer cannot possibly be consistent with our understanding of modern molecular medicine.”
Part of the study focuses on one particular variation in the genetic code that was discovered at the Cancer Institute by Dr. Arnold Levine, Hirshfield and their colleagues. The variation increases the chances of developing breast cancer at a young age and also decreases the effectiveness of chemotherapy and radiation.
The activity of the DNA mutation appears to be under the control of estrogen in the body. It may predispose some patients to recurrences or relapses of breast cancer, because the treatment for the original cancer is less effective.
“There are many variations in the human genome,” Hirshfield added. “Some are silent, without clinical applications. Ultimately, it's not going to be a single genetic variation” that determines whether breast cancer develops or how it responds to treatment. “It's probably going to be a combination, along with environmental factors,” she said.
Men and women over age 18 who are willing to give a blood sample and answer a health questionnaire are invited to participate in the study. For more information, call the study team at 732-235-7428.