Genetics University of Utah - Tour of the Basics - Understanding Genes, Chromsomes

What is DNA?
What is a Gene?
What is a Protein?
What is Hereditary?
What is a Trait?

U of Toronto researcher discovers key protein involved in DNA repair Discovery gives insight into the way cells protect their own genetic material

Note: in research

"In a groundbreaking study, U of T researchers including Professors Daniel Durocher, Anne‐Claude Gingras and Frank Sicheri have uncovered a protein called OTUB1 that blocks DNA damage in the cell—a discovery that may lead to the development of strategies to improve some cancer therapies.
Lead author Durocher, a senior investigator at Mount Sinai Hospital’s Samuel Lunenfeld Research Institute and the Thomas Kierans Research Chair in Mechanisms of Cancer Development, as well as colleagues at U of T, Mount Sinai Hospital and the Keio University in Japan, have revealed pivotal new information on how cells regulate their genetic material. In addition, the discovery improves understanding of familial breast and ovarian cancer, as the research shows that OTUB1 inhibits the action of BRCA1, a DNA repair protein often mutated in these cancers...."cont'd

Functional Proteomic Analysis of Advanced Serous Ovarian Cancer Using Reverse Phase Protein Array: TGF-β Pathway Signaling Indicates Response to Primary chemotherapy

Abstract Purpose: Using reverse phase protein array, we measured protein expression associated with response to primary chemotherapy in patients with advanced-stage, high-grade serous ovarian cancer. Conclusion: TGF-β pathway signaling likely plays an important role as a marker or mediator of chemoresistance in advanced serous ovarian cancer. On this basis, future studies to develop and validate a useful predictor of treatment failure are warranted.

Gene link to cancer risk in families - protein RAD51C (news item) breast and ovarian

Note: this report is worthwhile reading especially for those who test negative for BRCA 1/2

"No significant mutations were found in RAD51C in the 620 families with breast cancer only.  However, when they looked at the breast and ovarian cancer families, things got really interesting.  In all, they were able to identify a total of 6 mutations in the 480 families that had sufficient evidence to implicate them in the breast and ovarian cancer susceptibility.  Thus, in this German study of women with unexplained familial breast and ovarian cancer, the cancer susceptibility in 1.3% of the families could be explained by heterozygous mutations in the RAD51C gene."

Exons: Researchers Sequence 'Exomes' Of New Strategy For Finding Disease Genes

"....demonstrated the feasibility and value of a new strategy for identifying relatively rare genetic variants that may cause or contribute to disease....The new strategy involves isolating and sequencing all exons which are the parts of the human genome that contain the information needed to produce proteins, the building blocks of the body. The complete set of exons – referred to as the "exome" – makes up only one percent of the human genome. By selecting only the exome to sequence, the important information about an individual can be obtained at a much lower cost than sequencing a person's entire genome."