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June 7, 1995

Oncology and Hematology

Author Affiliations

Yale University School of Medicine, New Haven, Conn

JAMA. 1995;273(21):1702-1703. doi:10.1001/jama.1995.03520450072037

Since the mapping in 1990 of a breast cancer susceptibility gene—dubbed BRACA1—to the long arm of chromosome 17,1 an intensive effort has been under way to isolate the gene. This gene was predicted to account for a large proportion of breast cancers arising in families with histories of early onset of both breast and ovarian cancers, and some sporadic cases of breast cancer. A strong candidate was announced in the past year.2 The new gene is very large and contains sequences that suggest that it has DNA binding and translational activity, consistent with function as a transcription factor. Mutations were identified in five of eight kindreds tested; those identified to date are predicted to lead to protein with altered or lost function. In each of the kindreds with early onset of breast cancer, at least one woman carried the gene but survived to the age of 80

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