(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 [...]
ATM and Pancreatic Cancer Risk
Posted on May 21, 2012 Written by Leave a Comment
Inherited pancreatic cancer risk is a very challenging problem. Pancreatic cancer strikes fear into many who have seen a relative diagnosed with the disease – which is unfortunately often relentlessly progressive and extremely challenging to treat. Over the last couple of decades, extensive efforts to study families with aggregations of pancreatic cancer cases have led [...]
Hereditary Mixed Polyposis Syndrome: A New Genetic Explanation Involving the GREM1 Gene
Posted on May 20, 2012 Written by Leave a Comment
If you or someone you know may have Hereditary Mixed Polyposis Syndrome, there is some interesting news from the research world that is worth knowing about. What is Hereditary Mixed Polyposis Syndrome? Hereditary Mixed Polyposis Syndrome (HMPS) is a very rare inherited cancer predisposition syndrome in which a significant number of polyps develop in the [...]
A New Look for Cancer and Your Genes
Posted on April 17, 2012 Written by Leave a Comment
If you’re a returning visitor, you’ve almost certainly noticed a few changes around the site. We’ve gone from this… …to this. Our goals in switching things up were several-fold: 1. CancerAndYourGenes was long overdue for a redesign. Since 2007, our focus has been primarily on writing and content, while using an old, tired Typepad® [...]
More on Triple-Negative Breast Cancer and BRCA1 Mutations: This Time from Greece
Posted on March 26, 2012 Written by Leave a Comment
A Greek study provides further evidence that we must seriously consider testing for BRCA1 mutations in all triple-negative breast cancer patients under the age of 50 regardless of family history.
Abraxas: A New Hereditary Breast Cancer Gene
Posted on March 6, 2012 Written by Leave a Comment
If you have a compelling family history of breast cancer that is not explained by a BRCA1 or BRCA2 gene mutation, another gene – Abraxas – has been added to the list of possible explanations.
New Evidence Supports BRCA1 Testing for All Women with Triple-Negative Breast Cancer Diagnosed Before Age 50
Posted on March 6, 2012 Written by Leave a Comment
If you were diagnosed with triple-negative breast cancer before age 50, your chance of having a BRCA1 mutation is likely ~20%
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?