American Cancer Society and the United Kingdom's Cancer Research Campaign.
Researchers estimated that about 5 percent of the breast cancer cases result
from inherited genetic mutations.
"BRCA1 seems to be responsible for about half of inherited breast
cancers," said Futreal, an assistant research professor of surgery
and assistant professor of genetics. "Our findings strongly suggest
that BRCA2 accounts for most of the remaining 50 percent."
With the help of physicians and scientists in five countries, Futreal and
Stratton studied a series of families with multiple cases of early-onset
breast cancer that did not have mutations in BRCA1.
Using DNA from these families, they were able to track the gene to a region
on chromosome 13. A recent finding of a pancreatic cancer with a deletion
of genetic material in the precise region of BRCA2 also aided in localizing
the region where the gene resides, Futreal said.
The inherited mutations appear to damage the cell's ability to avoid the
abnormal growth that characterizes cancer, Futreal said.
"Like BRCA1, the gene appears to function as a tumor suppressor gene,"
Futreal said. "In these families, the normal copy of the gene is knocked
out, the mutated copy is retained, and the gene loses its ability to function
The process of mapping and cloning the gene was faster this time, said
Stratton, who heads the Institute for Cancer Research's section of molecular
"BRCA1 took four years to go from the initial mapping stage to isolation
and characterization of the specific gene involved," Stratton said.
"Due to many recent advances in molecular biology, we have managed
to shorten the process for BRCA2 to half that time."
The researchers do not yet know whether BRCA2 plays a role in the development
of sporadic, or non-inherited, breast cancers.
Contact: David Rice
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