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Posts with tag mutated

Four more breast cancer genes found

Four more breast cancer genes have been uncovered by a team of international scientists, a discovery that may rival in importance the cloning of the BRCA2 gene in 1995. Scientists say women with mutated versions of these genes have a pretty low risk of contracting breast cancer, though, and it's unlikely that screening tests for such mutations will be developed.

Genetic causes of breast cancer account for 5 to 10 percent of all cases. Lifestyle factors, such as smoking and environmental influences, account for the rest.

Until now, only 25 percent of the genes suspected to cause inherited breast cancer had been identified. The four new genes -- FRFR2, TNRC9, MAP3K1, and LSP1 -- are believed to be fairly common yet account for only four percent of all cases. The genes BRCA1 and BRCA2, in contrast, are not very common but indicate a high risk for disease.

Continue reading Four more breast cancer genes found

Family helps identify gene linked to pancreatic cancer

A decade of research specific to the inherited form of pancreatic cancer has turned up a gene that could lead to earlier diagnosis and treatment for one of the deadliest forms of cancer.

The magical gene -- called palladin -- was discovered at the University of Washington after the extensive study of one family that has lost nine members over four generations to pancreatic cancer and has nine additional members with early signs of the disease.

Washington resident Ryan Chappell, a member of this family who had his pancreas removed just before cancer could strike, is very excited about this breakthrough.

"I feel really good that my family has not suffered (in vain)," the 21-year-old says. "Something has been accomplished from their contribution."

What the Chappell family has contributed to research is an understanding of a breakdown in a gene that makes a protein for the skeleton of pancreas cells. In this one family, the gene was mutated and produced large amounts of a misshapen protein that rolls like tumbleweed through the body, migrating 50 percent faster than other cells.

Scientists hope to translate their research findings into a diagnostic test to find excess amounts of the protein and to prevent the cancer cells from moving.

For now, early detection of pancreatic cancer rare because the pancreas is deep in the body, making it difficult to feel or see tumors through imaging tests. Symptoms -- like jaundice, abdominal and back pain, and digestive problems -- usually surface only after the cancer has spread.

Cancer of the pancreas is rare but is the third-leading cause of cancer death among people age 40 to 60.

New gene discovery is small piece in breast cancer puzzle

Researchers have identified a damaged gene -- BRIP1 -- that doubles the risk of familial breast cancer in a small percentage of women. BRIP1 is a DNA repair gene that can lead to uncontrollable cell growth if not functioning properly. Researchers have concluded that the damaged gene increases risk for breast cancer from eight to 16 percent by age 70.

These findings won't change patient care but they may offer comfort to women who develop breast cancer and cannot pinpoint the occurrence to the commonly mutated BRCA1 and BRCA2 genes -- mutations that are responsible for the disease 80 percent of the time. And while the study of BRIP1 does add to the pool of research on breast cancer, it does not warrant screening at this time. It's just a small piece of the puzzle that one day may prove significant. For now, the risk of breast cancer resulting from a damaged BRIP1 gene is modest.

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