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Highlights of research conducted with data and samples from the Familial OCR:

BRCA1 and Cancer

Can BRCA1 Mutations Lead to Other Kinds of Tumors?

Primary Ovarian Dysgerminoma in a Patient with a Germline BRCA1 Mutation

International Journal of Gynecological Pathology, 2000,
Bruce A. Werness, MD; Susan J. Ramus, PhD; Alice S. Whittemore, PhD; Kim Garlinghouse-Jones, MS; Ingrid Oakley-Girvan, MPH; Richard A. DiCioccio, PhD; Yoshiaki Tsukada, MD; Bruce A.J. Ponder, MD, PhD; and M. Steven Piver, MD

Different kinds of tumors often behave a certain away. These characteristics aid in the understanding of how cancer develops, and how it can best be treated. But it’s often just as important when scientists discover an anomaly in their understanding of a certain kind of cancer.

Until the findings of this study were published, all known cases of ovarian cancer in patients with a mutation in the BRCA1 gene involved epithelial tumors—a common kind of tumor that originates on the outer membrane of an organ or gland. This was the first report of a primary ovarian germ cell tumor known as a dysgerminoma in a patient who carried the BRCA1 germline mutation. Her family history included other women with breast and ovarian cancer, as well as male relatives with skin cancer, each of whom also carried the BRCA1 mutation.

While this kind of tumor is still considered extremely rare in patients with the BRCA1 mutation, these findings opened up the possibility that the mutation could be linked with the development of other kinds of cancer.