(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 [...]
(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 [...]
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 [...]
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 [...]
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® [...]
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.
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
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
A new study shows that mutations in the DIS3L2 gene cause Perlman syndrome – which is associated with Wilms tumor risk
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?