Joan H. Marks, MS

2009-2010 BCRF Project:

The New York Breast Cancer Study
Co-Investigator: Mary-Claire King, PhD, New York Breast Cancer Study at the University of Washington, Seattle, WA

The goals of the New York Breast Cancer Study are to identify genes underlying inherited risk of breast cancer among women of Ashkenazi Jewish ancestry, then to generalize their findings from Jewish women to women of all ancestries. This year, for the first time, the researchers have the capacity to address this question by sequencing the entire genomes of selected breast cancer patients. Their subjects for complete genome sequencing are five Ashkenazi Jewish women who developed breast cancer and whose families have been severely affected, but who have normal sequence of all known breast cancer genes. Inherited mutations predisposing to breast cancer in these patients could occur in anywhere in the human genome. By determining their complete genome sequences, the investigators will identify every rare genetic variant and evaluate which are coinherited with breast cancer in their families and which are associated with breast cancer in the Ashkenazi population as a whole. New breast cancer genes identified in the Ashkenazi Jewish populations will then be sequenced for other mutations in other populations.

Mid-Year Progress Report:
The goals of the New York Breast Cancer Study are to identify genes underlying inherited risk of breast cancer among women of Ashkenazi Jewish ancestry, then to generalize these findings from Jewish women to women of all ancestries. This year, for the first time, the researchers have introduced complete human genome sequencing to address this goal. They carry out this sequencing entirely in the King laboratory.

The first subjects for sequencing are DNA samples from five Ashkenazi Jewish women who developed breast cancer and whose families have been severely affected, but who have normal sequence of all known breast cancer genes. Inherited mutations predisposing to breast cancer in these patients could occur in anywhere in the human genome. From their genomic sequences, the researchers will identify every rare genetic variant and evaluate which are co-inherited with breast cancer in their families and which are associated with breast cancer in the Ashkenazi population as a whole. New breast cancer genes identified in the Ashkenazi Jewish populations will then be sequenced for other mutations in other populations. This is the first application of complete genome sequencing to inherited breast cancer anywhere in the world.

Bio:
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. Mp>In 2003 Joan Marks became the first woman and first non-M.D. 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.