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Another Gene that Increases Breast Cancer Risk

Posted 8/14/2014

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  Researchers in the UK have identified another gene that increases breast cancer risk to 1 in 3 women by age 70. This makes this gene almost as powerful as the better known BRCA1 and BRCA2 genes. Called PALB2, I suspect it is something we will be hearing more about.

  This is a much less common gene than the BRCA1 or BRCA2, but, for families that have it, surely it is powerful. Here is the start of an article from The New York Times and than a link to read it all. As an aside, before I post this, I am adding this second blog today as I will be traveling tomorrow.

Study Confirms Third Gene as Strong Indicator of Breast Cancer
Mutations in a gene called PALB2 raise the risk of breast cancer in women by almost as much as mutations in
BRCA1 and BRCA2, the infamous genes implicated in most inherited cases of the disease, a team of
researchers reported on Wednesday.
Previous data had indicated that mutations in PALB2 were linked to breast cancer, and many genetic tests
already screen for them. But it had not been clear to what extent these mutations raised a carrier’s odds of
developing the disease.
Dr. Marc Tischkowitz, an associate professor of medical genetics at the University of Cambridge, and his
colleagues studied 362 members of 154 families with PALB2 mutations. None had BRCA1 or BRCA2
mutations, but all had at least one family member with breast cancer and a mutation in PALB2. There were
311 women with PALB2 mutations, of whom 229 had breast cancer, and 51 men with the mutation, of whom
seven had the disease.
The results were published in the New England Journal of Medicine.


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