Susan Domchek

Susan Domchek

Nationality	American
Known for	Research on BRCA1 and BRCA2 mutations

Susan Domchek is a prominent American oncologist and researcher, known for her work in the field of genetics and oncology, particularly focusing on hereditary breast and ovarian cancer syndromes. She is a leading expert in the study of BRCA1 and BRCA2 gene mutations and their implications for cancer risk and prevention.

Early Life and Education

Susan Domchek was born in the United States. She pursued her undergraduate studies at Harvard University, where she developed an interest in the biological sciences. She then attended Johns Hopkins University School of Medicine, where she earned her medical degree. During her time at Johns Hopkins, she became deeply interested in the genetic aspects of cancer, which would shape her future research career.

Career

After completing her medical degree, Dr. Domchek completed her residency in internal medicine and a fellowship in medical oncology at the Massachusetts General Hospital. She then joined the faculty at the University of Pennsylvania, where she has been a key figure in the field of cancer genetics.

Dr. Domchek is the Executive Director of the Basser Center for BRCA at the University of Pennsylvania, the first comprehensive center focused on the prevention and treatment of cancers associated with BRCA mutations. Under her leadership, the Basser Center has become a leading institution for research and education on hereditary cancer syndromes.

Research

Dr. Domchek's research primarily focuses on the genetic factors that contribute to breast and ovarian cancer. She has conducted extensive studies on the BRCA1 and BRCA2 genes, which are critical in understanding hereditary breast and ovarian cancer. Her work has contributed to the development of genetic testing guidelines and risk assessment models for individuals with a family history of these cancers.

She has also been involved in clinical trials exploring targeted therapies for patients with BRCA mutations, including the use of PARP inhibitors, which have shown promise in treating BRCA-related cancers.

Awards and Honors

Dr. Domchek has received numerous awards for her contributions to cancer research, including recognition from the American Association for Cancer Research and the American Society of Clinical Oncology. She is widely published in peer-reviewed journals and is a sought-after speaker at international conferences on cancer genetics.

Personal Life

Dr. Domchek is married and has children. She is an advocate for patient education and empowerment, often speaking about the importance of genetic counseling and informed decision-making in cancer prevention.

Also see

• BRCA1
• BRCA2
• Basser Center for BRCA
• Genetic counseling
• PARP inhibitors