Co-Director of The New York Breast Cancer Study
Sarah Lawrence College
Bronxville, New York
The goal of the New York Breast Cancer Study conducted with Ms. Joan Marks is 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. To discover these genes, Dr. King and Ms. Marks use 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. BRCA1 was originally identified by this approach, and sister genes of BRCA1 have been identified by this approach as well.
With the development of relatively low cost whole genome technologies, the research team has identified new classes of mutations in BRCA1 and BRCA2 and other known breast cancer genes. Examples of these include mutations of single DNA nucleotides that affect normal protein synthesis and chimeric genes which, as the name suggests, are mutations with the head of one gene and the tail of another. These mutant genes cannot create normal products and lead to breast cancer.
The team expects that their methods will continue to reveal multiple different, heretofore under-appreciated classes of mutations. They predict that each one of these mutations will be individually very rare, but collectively more common.
The practical importance of this phase of the NYBCS will be to reveal the range of mutations that can occur among women with breast cancer whose family history suggests inherited predisposition to breast cancer, but also for whom the critical mutations have not yet been found.
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. X’s indicate no changes