The notion that there is a particular gene or genes for a specific cancer is attractive, but most of the time only reflects the scientists' tendency to attract the community interest on their findings. There is nothing wrong with that because their work needs recognition. Recent advances in cure and novel therapeutic approaches have occurred to convince the common of mortals that Researchers are hard at work. But by now we know that most standard genetic family abnormalities involve only 5-10% of cancers. That means that no one genetic abnormality stands to justify any specific cancer in-toto. The case of BRCA1 and 2 in Breast cancer.
Breast cancer survivor Women who participated in My talk in El Paso,TX were surprised to learn that 85% of women newly diagnosed with Breast cancer in the US were first in their family. Everybody was assuming that breast cancer happens because of family predisposition. This is clearly an underestimation of the heterogeneity of our genetic material. Don't understand me wrong, there are clear cases of family predispositions, however, we have an approximate 25,000 genes, something and somewhere a significant event can happen anytime. Also, one should know that there is primary and secondary amplification. In some cases it is hard to determine which came first (Chicken and egg dilemma ).
Another compounding factor complicating our interpretation in rare cases, is the notion that the cause of cancer can be located in the promoter gene which all of a sudden becomes difficult to methylate or suppress, causing secondary amplification of a gene or of its regulators.
When one wants to look at the genes involved in ovarian cancers, it is good to focus on particular genes (HNF1B) as clearly publicized, but we can't ignore the story of BRCAs, and other family syndromes which harbor Ovarian cancer as a component of the syndrome. Therapies that are being developed and being effective in Ovarian cancer (Anti MEK) are also pointing to relevant genes. The story of lung cancer with its ever expanding list of DRIVER MUTATIONS and the advent of MULTIPLEX gene screening is just another proof of the danger of claiming to have discovered THE GENE for a specific cancer!
GENES OF OVARIAN CANCER (to follow)
Showing posts with label genetic predispostion to cancer. Show all posts
Showing posts with label genetic predispostion to cancer. Show all posts
Thursday, April 4, 2013
Friday, December 21, 2012
STUDY OF GENETIC PREDISPOSITION TO CANCER.
Human genome has been uncovered, and laboratories can now give us our genomes quickly. What took years to develop is now readily available. Pretty soon we are all going to have a credit card/ID with our genome on it. Already, scientists are working at studying the patterns of DNA as they relate to disease development. It will soon become obligatory to write the patient's genome sequence to support the diagnosis doctors give to their patients before insurance will pay for the drug.
For Colon cancer, people will be swallowing disposable cameras to detect early masses. Colonoscopies will be things of the past (it will be indicated just for biopsies of masses seen on cameras). Hemocult test as we know it, will be replaced by gene detection on the stool sample.
Presence of Mismatch repair gene, APC gene, loss of 5q,18q,17q,8q (these numbers are not random, this is how cancer evolves from a normal cell to a cancer cell in Colon cancer). If a stool sample gives you a 8q, you know pretty much this man or woman has more likely the cancer, based on the current model of colon cancer genetic evolution.
In families with many cancers, comparing sequences of genes of family members is now being further improved. Who actually develops the cancer and who stays safe, is being mapped to see the differences that triggered cancer development (phylogenetics). As we are uncovering DRIVER ONCOGENES, our treatment will be computer generated. No one will be able to remember all the genes and their heterogeneous presentations.
We got to face this, our future is to have a Gene Card for ID. There is no Doctor who will know all the gene abnormalities, so the first thing you do when you enter the medical office is to hand over your gene card. We put it in a READER and we have your disease, real, or tendencies and all potential treatments you may benefit from. Drs will be there to hold your hand and give you some additional comforting advice.
Our infectious disease specialist will be giving a prescription with the genes of the infectious agent spelled out, with the likely Antibiotic to give. Science is moving forward, let's embrace it!
Human genome has been uncovered, and laboratories can now give us our genomes quickly. What took years to develop is now readily available. Pretty soon we are all going to have a credit card/ID with our genome on it. Already, scientists are working at studying the patterns of DNA as they relate to disease development. It will soon become obligatory to write the patient's genome sequence to support the diagnosis doctors give to their patients before insurance will pay for the drug.
For Colon cancer, people will be swallowing disposable cameras to detect early masses. Colonoscopies will be things of the past (it will be indicated just for biopsies of masses seen on cameras). Hemocult test as we know it, will be replaced by gene detection on the stool sample.
Presence of Mismatch repair gene, APC gene, loss of 5q,18q,17q,8q (these numbers are not random, this is how cancer evolves from a normal cell to a cancer cell in Colon cancer). If a stool sample gives you a 8q, you know pretty much this man or woman has more likely the cancer, based on the current model of colon cancer genetic evolution.
In families with many cancers, comparing sequences of genes of family members is now being further improved. Who actually develops the cancer and who stays safe, is being mapped to see the differences that triggered cancer development (phylogenetics). As we are uncovering DRIVER ONCOGENES, our treatment will be computer generated. No one will be able to remember all the genes and their heterogeneous presentations.
We got to face this, our future is to have a Gene Card for ID. There is no Doctor who will know all the gene abnormalities, so the first thing you do when you enter the medical office is to hand over your gene card. We put it in a READER and we have your disease, real, or tendencies and all potential treatments you may benefit from. Drs will be there to hold your hand and give you some additional comforting advice.
Our infectious disease specialist will be giving a prescription with the genes of the infectious agent spelled out, with the likely Antibiotic to give. Science is moving forward, let's embrace it!
Sunday, October 14, 2012
Conference with the Cancer Survivor Dialogue Group
On October 9, 2012, the CRBCM had a chance to submit a comprehensive mission and plan of activities intended for implementation annually. The plan was presented before the Dialogue Cancer Group, the largest Breast cancer survivors group in El Paso. Some members including a local physician were current patients undergoing chemotherapy. We took that opportunity to conduct a small survey to detect perception by El Pasoans as to what would be the most frequent or predominant risk factors for Breast cancer. Certainly, this was to tailor our education program for a potential primary prevention intervention. We asked the participants to rank the first 10 risk factors by importance out of 28 risk factors documented by BreastCancer.org on their web page. The list was randomly proposed for this small study. We have not concluded our analysis yet, but one can already suggest that 85% of survivors and current patients in El Paso feel that the 2 predominant Risk factors at equal rates were FAMILY HISTORY and GENETIC PREDISPOSITION.
This finding is striking because of the following reasons:
1. The group under observation is made of people who discuss monthly about Breast Cancer. Current patients speak with their Doctors almost everyday. This is a group of people that is clearly very well informed about this topic. But they still believe that the disease is either hereditary or follows a Mendelian inheritance pattern. That somehow the family history determines who will get Breast Cancer. Te truth is that 85 percent of newly diagnosed Breast cancers happen in women who are the first in their family to have the disease. In other words, just because there is no family history of breast cancer, women should not feel protected against the disease.
Take your mammogram if you are over 40 years of age: Please!
2. The consequence of the belief that "nobody in my family has it, so I am not at risk and so why would I want to go for a mammogram?" clearly is one of the barriers to taking a screening mammogram. Our Health Education material will feature it as a major objective to discuss in order to increase local rates of screening mammograms here in El Paso.
3. The Other truth is that most research literature suggests that only 5 to 10% of breast cancers (including BRCA 1 and BRCA 2) have a true genetic or familial hereditary or Mendelian inheritance pattern. The rest is random!
TO BE CONTINUED
This finding is striking because of the following reasons:
1. The group under observation is made of people who discuss monthly about Breast Cancer. Current patients speak with their Doctors almost everyday. This is a group of people that is clearly very well informed about this topic. But they still believe that the disease is either hereditary or follows a Mendelian inheritance pattern. That somehow the family history determines who will get Breast Cancer. Te truth is that 85 percent of newly diagnosed Breast cancers happen in women who are the first in their family to have the disease. In other words, just because there is no family history of breast cancer, women should not feel protected against the disease.
Take your mammogram if you are over 40 years of age: Please!
2. The consequence of the belief that "nobody in my family has it, so I am not at risk and so why would I want to go for a mammogram?" clearly is one of the barriers to taking a screening mammogram. Our Health Education material will feature it as a major objective to discuss in order to increase local rates of screening mammograms here in El Paso.
3. The Other truth is that most research literature suggests that only 5 to 10% of breast cancers (including BRCA 1 and BRCA 2) have a true genetic or familial hereditary or Mendelian inheritance pattern. The rest is random!
TO BE CONTINUED
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