Co-Director of The New York Breast Cancer Study
Sarah Lawrence College
Bronxville, New York
Seeking to characterize the genetic susceptibility to breast cancer in high-risk groups to improve screening and risk stratification strategies.
The NYBCS team will examine genetic profiles of Jewish families severely affected with breast cancer, but who have no mutations in any known breast cancer gene.
These collaborative efforts continue to inform our understanding of inherited risks of breast cancer in diverse populations.
The New York Breast Cancer Study (NYBCS) is a study to identify all genes responsible for inherited predisposition to breast cancer among women of Ashkenazi Jewish ancestry and, by extension, among women of all ancestries.
The study employs genomic sequencing to evaluate DNA from women who have developed breast cancer and from their relatives to identify inherited mutations in genes critical to the development of breast cancer.
Recent analysis revealed that 10 percent of breast cancer patients of Jewish ancestry carried one of three relatively common “founder mutations” in BRCA1 or BRCA2, dramatically increasing the risk of breast and ovarian cancer. About 1 percent carry some other damaging mutation in BRCA1 or BRCA2, and 3 to 4 percent of patients had a damaging mutation in one of the other “moderate risk” breast cancer genes.
The goal of the NYBCS for the coming year is to identify mutations responsible for breast cancer in families of any ancestry with no inherited mutations in any of the known breast cancer genes. The research team believes that breast cancer in these patients may be due to mutations in DNA that regulate the timing of expression of genes, rather than mutations that directly alter the sequences of genes.
Joan H. Marks is Co-Director of The New York Breast Cancer Study, a research project examining the role of breast cancer genes in increasing the incidence of breast cancer in Ashkenazi Jewish women.
From 1972 to 1998 Joan Marks directed two unique graduate programs in health care at Sarah Lawrence College. The Human Genetics program, which she developed into the largest program in the country to educate genetic counselors, pioneered the field of genetic counseling and served as a model for 26 similar programs at universities in the U.S. and several others in Canada, Argentina, Australia, Puerto Rico, Taiwan, England and Israel. In 1979, Marks founded the Graduate Program in Health Advocacy at Sarah Lawrence, the first graduate degree program to train advocates who work within the complex health care delivery system in the U.S. to ensure the rights of patients and health care consumers.
Joan Marks has served on a number of advisory boards in medicine such as the American Board of Internal Medicine, the American Academy of Physicians and Patients, and the Women's Health Initiative of the National Institutes of Health. She has also chaired the Ethics Committee of the National Neurofibromatosis Association and is a member of their Clinical Care Advisory Board. She is the author of The Genetic Connection: How To Protect Your Family Against Genetic Disease and editor of Advocacy in Health Care: The Silent Constituency.
In 2003, Joan Marks became the first woman and first non-MD to receive the Excellence in Human Genetics Education Award, presented by the American Society of Human Genetics. In April 2006, in recognition of her "enduring contributions to Sarah Lawrence College, and of her legacy as pioneer, educator, mentor, advocate and leader in genetic counseling," the College formally named its human genetics program the Joan H. Marks Graduate Program in Human Genetics.