(This is the second part of a series that began with a previous post – “The Important Role of Rearrangements, Duplications, and Deletions of BRCA1 and BRCA2“.) In Part 1 of this series, we provided an introduction to the role that large rearrangements of the BRCA1 and BRCA2 genes play in Hereditary Breast and Ovarian [...]
The Important Role of Rearrangements, Duplications, and Deletions of BRCA1 and BRCA2 – Part 2
Posted on May 23, 2012 Written by Leave a Comment
The Important Role of Rearrangements, Duplications, and Deletions of BRCA1 and BRCA2
Posted on May 22, 2012 Written by Leave a Comment
(this is the 1st part of a 7 part series) The Hereditary Breast and Ovarian Cancer risk genes, BRCA1 and BRCA2, are the most important genetic risk factors known for breast and ovarian cancer. Individuals with a disease-associated mutation in one of these genes have markedly elevated breast cancer and ovarian cancer risks. The identification [...]
Mutations in the DIS3L2 Gene Cause Perlman Syndrome: Another Key Clue in Unraveling the Puzzle of Wilms Tumor Development
Posted on February 7, 2012 Written by Leave a Comment
A new study shows that mutations in the DIS3L2 gene cause Perlman syndrome – which is associated with Wilms tumor risk
Other Cancers Seen in Families with RAD51D Mutations
Posted on August 9, 2011 Written by Leave a Comment
Two days ago we discussed a recent study by Dr. Nazneen Rahman and colleagues which clearly demonstrated that inherited mutations in a gene called RAD51D result in a substantial elevation in risk for ovarian cancer. This elevation in risk was seen in some families in which other cancer types were seen in the family tree. So, does this mean that the other cancer types in these families are also due to the RAD51D mutations?
RAD51D – A New Hereditary Ovarian Cancer Gene With Important Implications
Posted on August 7, 2011 Written by Leave a Comment
If you have a compelling family history of ovarian cancer that is not explained by a mutation in the BRCA1 or BRCA2 gene, it is possible that a mutation in the RAD51D gene could be the explanation.
New Financial Assistance Program for Young Women with BRCA1 and BRCA2 Mutations Needing Help Paying for Screening Breast MRI
Posted on July 6, 2011 Written by Leave a Comment
In a previous post we mentioned a Christina Applegate appearance on Oprah to discuss both learning that she (Ms. Applegate) had Hereditary Breast and Ovarian Cancer risk due to a BRCA1 mutation and the aftermath. Since then, The Christina Applegate Foundation has worked to promote awareness of the importance of breast MRI screening for high-risk women. However, one key impediment for some women is the cost of MRI. Now, Right Action for Women is doing something to address this problem.