One gene, three types of cancer

APA
Jun 25, 2013

French scientists have discovered that a BAP1 gene mutation causes a predisposition to kidney cancer. The mutation has been known to play a role in eye cancer (retinoblastoma or uveal melanoma as well as in mesothelioma). The researchers at the Institute Curie’s department of genetics in Paris have published their findings in the “American Journal of Human Genetics”.

For the study, the scientists analyzed data from a family with a history of many unexplained cases of cancer. One family member who developed multiple instances of cancer was observed over an extended period of time; however, no change in genetic predisposition for that particular tumour was found.

The BAP1 mutation was only discovered after examining the genome. An analysis of kidney tumours confirmed the findings. The malignant cells contained only the mutated version of the gene.

In a cooperation with two other research teams, the scientists found 11 families with the BAP1 mutation. They were able to ascertain that six families showed an unusually high number of cases of kidney cancer. Of the nine persons to have developed kidney cancer, genetic analysis of four family members’ tumours showed the BAP1 gene to be inactive in malignant cells.

One day we will have identified the genes that cause a variety of cancers. We already have done this from Breast, Ovarian and Cervical cancers. Discoveries of genes that produce certain types of leukemia have treatments based upon genes that cause the disease. Today, we are seeing discoveries like this one and our future will hold the possibility that we can diagnose and treat these diseases early in their course and save lives. One day we will supply a drop of blood and hundreds of disease markers will be analyzed. That day is getting closer and closer.

People with a rare genetic mutation in the gene encoding apolipoprotein C3 (APOC3) not only have lower plasma triglyceride levels, they also have a decreased risk of developing coronary heart disease (CHD), researchers report in two independent studies published online June 18, 2014, in the New England Journal of Medicine [1,2]. This could eventually lead to the development of new drugs that mimic this genetic effect, although that potential therapy is far away.

They further reported that the gene is present in one out of 150 people. I wonder if the old age in my mother’s family line (Her father died at age 102 who was also 5 foot tall and weighted 300 lbs, and her grandmother died at 114 years old) reflected that they may have had this particular genetic coding. Her diet was terrible by today’s standards, so this might explain her long life.

Snippet:

Question: I may have to have chemotherapy. Will I go bald?

Answer: Hair loss is not certain with chemotherapy. Whether you lose hair depends upon the medication and dose your doctor prescribes.

Chemotherapy is a systemic treatment that uses drugs to kill malignant cells, bacteria, viruses and fungi. Chemotherapy drugs are used to treat cancer, bone marrow diseases, rheumatoid arthritis and lupus. The drugs can be given by injection or taken orally. There are also topical creams.

Chemotherapy drugs attack rapidly growing cancer cells. They also attack other rapidly growing cells in your body such as those in your hair roots. Each patient reacts differently to these drugs. Some newer chemotherapy drugs may cause fewer side effects.

Read the rest — Does Chemotherapy Always Cause Hair Loss?

This is a pretty good write-up about chemo and hair loss.