| Abstract: |
However, almost half of families with multiple cases of breast cancer only (site-specific breast cancer families) do not have an identifiable BRCA1 or BRCA2 mutation. l Reasons why families with multiple cases of breast cancer only may not have an identifiable BRCA1 or BRCA2 mutation include (i) the cluster of cancers is a chance event, (ii) the individual tested may be a phenocopy (i.e., the tested individual has a sporadic cancer unrelated to an inherited familial predisposition), (iii) the inherited predisposition is due to a mutation in an as yet undiscovered cancer predisposition gene, or (iv) currently used mutation techniques are unable to detect a mutation that is present within BRCA1 or BRCA2. © 2008 by Informa Healthcare USA, Inc. |
