This is a story of a families suffered from hereditary non polyposis colon cancer that was left undiagnoses for a long period.
The index patient is a 68 yr old women. She came to thyroid clinic as a regular basis to reevaluate her neck mass that was diagnosis later as benign hyroid nodule for about 2 years. Last time, my resident asked her about her family, and this resident found that this is a very interesting family. She was diagnosed transitional cell carcinoma of left kidneys and was undergone success total nephrectomy for 20 years. She also had undergone hysterectmy (cut out the womb) that was diagnosed benign smooth muscle tumor. Her brother was suffered from small intestinal adenocardinoma in his 40 years. She had 5 offsprings, two males and three females. Her son was healthy, her daughters are diagnosed ovarian cancer and colon cancer each. Left only one daughter in her 40 normal.
So this family had four members suffered from cancers which can be group to fit for hereditary non polyposis colon cancer syndrome, which is a cancer predisposing syndrome. Member who carried the abnormal gene have about 70% risk to developed colon cancer and a substantial risks to develop other tumors such as kidneys, ovaries, small intestines like this family.
The family memebers were arranged to see me. I gave them a new information that they never heard before. Surveillance colonoscopy (only the index patient go for virtual CT colonoscopy), pelvic ultrasound, serum tumor marker screening are recommended for patients and who are at 50% risk to carrier the mutated gene.
Genetic testing of this syndrome is very exhaustive, due to different genes (up to 4 or more) can be the cause of the syndrome, very large gene and many other limited factors, so this genetic test are not adopted as routine practice in our country.
The family member said " We feel that we are lucky to know this information. For more than 20 years, we see our relatives diagnosed with cancer and we cannot do anything. Now we know that genetics play important part and we can surveillance as a regular basis to find it and to manage it promptly. We are happier that we were."
Showing posts with label cancer. Show all posts
Showing posts with label cancer. Show all posts
Monday, 19 November 2007
Is cancer a genetic disorders?
What is cancer?
Cancer is a disease of the cells in the body. There are many different types of cell in the body, and many different types of cancer which arise from different types of cell. What all types of cancer have in common is that the cancer cells are abnormal and multiply 'out of control'. However, there are often great differences between different types of cancer. For example:
Some grow and spread more quickly than others.
Some are more easy to treat than others, particularly if diagnosed at an early stage.
Some respond much better than others to chemotherapy, radiotherapy, or other treatments.
Some have a better outlook (prognosis) than others. For some types of cancer there is a very good chance of being cured. For some types of cancer, the outlook is poor.
So, cancer is not just one condition. In each case it is important to know exactly what type of cancer has developed, how large it has become, whether it has spread, and how well the particular type of cancer responds to various treatments. This will enable you to get reliable information on treatment options and outlook.
What causes cancer?
Each cancer is thought to first start from one abnormal cell. What seems to happen is that certain vital genes which control how cells divide and multiply are damaged or altered. This makes the cell abnormal. If the abnormal cell survives it may multiply 'out of control' into a malignant tumour.
We all have a risk of developing cancer. Many cancers seem to develop for no apparent reason. However, certain risk-factors are known to increase the chance that one or more of your cells will become abnormal and lead to cancer. Risk factors include the following:
Chemical carcinogens
A carcinogen is something (chemical, radiation, etc) which can damage a cell and make it more likely to turn into a cancerous cell. As a general rule, the more the exposure to a carcinogen, the greater the risk. A list of known and suspected chemical carcinogens can be found at http://physchem.ox.ac.uk/MSDS/carcinogens.html Well known examples include:
Tobacco smoke. If you smoke, you are more likely to develop cancer of the lung, mouth, throat, oesophagus, bladder and pancreas. Smoking is thought to cause about a quarter of all cancers. About 1 in 10 smokers die from lung cancer. The heavier you smoke, the greater the risk. If you stop smoking, your risk goes down considerably.
Workplace chemicals such as asbestos, benzene, formaldehyde, etc. If you have worked with these without protection you have an increased risk of developing certain cancers. For example, a cancer called mesothelioma is linked to past exposure to asbestos.
Age The older you become, the more likely that you will develop a cancer. This is probably due to an accumulation of damage to cells in the body over time. Also, the body's defences and resistance against abnormal cells may become less good as you become older. For example, the ability to repair damaged cells, and the immune system which may destroy abnormal cells, may become less efficient with age. So, eventually one damaged cell may manage to survive and multiply 'out of control' into a cancer. Most cancers develop in older people.
Lifestyle factors
Diet and other lifestyle factors may increase or decrease the risk of developing cancer. For example:
If you eat a lot of fruit and vegetables you have a reduced risk of developing certain cancers. The exact way in which they protect against cancer is not fully understood. These foods are rich in vitamins and minerals, and also contain chemicals called 'anti-oxidants'. They may protect against damaging chemicals that get into the body. We should all eat at least five portions of fruit and vegetables per day (some experts recommend even more).
Eating too much fatty food possibly increases the risk of developing certain cancers.
The risk of developing certain cancers is increased by: obesity, lack of regular exercise, and drinking a lot of alcohol.
Radiation
Radiation is a carcinogen. For example, exposure to radioactive materials and nuclear 'fallout' can increases the risk of leukaemia and other cancers. Too much sun exposure and sunburn (radiation from UVA and UVB) increase your risk of developing skin cancer.
The larger the dose of radiation, the greater the risk of developing cancer. But note: the risk from small doses such as from a single X-ray test is very small.
Infection
Some viruses are linked to certain cancers. For example, people with persistent infection with the hepatitis B virus or the hepatitis C virus have an increased risk of developing cancer of the liver. But, most viruses and viral infections are not linked to cancer.
Immune system
People with a poor immune system have an increased risk of developing certain cancers. For example, people with AIDS, or people on immunosuppressive therapy.
Your genetic make-up
Some cancers have a strong genetic link. For example, in certain childhood cancers the abnormal gene or genes which may trigger a cell to become abnormal and cancerous are inherited. Other types of cancer may have some genetic factor which is less clear-cut. It may be that in some people their genetic make-up means that they are less resistant to the effect of carcinogens or other factors such as diet.
Cancer is a disease of the cells in the body. There are many different types of cell in the body, and many different types of cancer which arise from different types of cell. What all types of cancer have in common is that the cancer cells are abnormal and multiply 'out of control'. However, there are often great differences between different types of cancer. For example:
Some grow and spread more quickly than others.
Some are more easy to treat than others, particularly if diagnosed at an early stage.
Some respond much better than others to chemotherapy, radiotherapy, or other treatments.
Some have a better outlook (prognosis) than others. For some types of cancer there is a very good chance of being cured. For some types of cancer, the outlook is poor.
So, cancer is not just one condition. In each case it is important to know exactly what type of cancer has developed, how large it has become, whether it has spread, and how well the particular type of cancer responds to various treatments. This will enable you to get reliable information on treatment options and outlook.
What causes cancer?
Each cancer is thought to first start from one abnormal cell. What seems to happen is that certain vital genes which control how cells divide and multiply are damaged or altered. This makes the cell abnormal. If the abnormal cell survives it may multiply 'out of control' into a malignant tumour.
We all have a risk of developing cancer. Many cancers seem to develop for no apparent reason. However, certain risk-factors are known to increase the chance that one or more of your cells will become abnormal and lead to cancer. Risk factors include the following:
Chemical carcinogens
A carcinogen is something (chemical, radiation, etc) which can damage a cell and make it more likely to turn into a cancerous cell. As a general rule, the more the exposure to a carcinogen, the greater the risk. A list of known and suspected chemical carcinogens can be found at http://physchem.ox.ac.uk/MSDS/carcinogens.html Well known examples include:
Tobacco smoke. If you smoke, you are more likely to develop cancer of the lung, mouth, throat, oesophagus, bladder and pancreas. Smoking is thought to cause about a quarter of all cancers. About 1 in 10 smokers die from lung cancer. The heavier you smoke, the greater the risk. If you stop smoking, your risk goes down considerably.
Workplace chemicals such as asbestos, benzene, formaldehyde, etc. If you have worked with these without protection you have an increased risk of developing certain cancers. For example, a cancer called mesothelioma is linked to past exposure to asbestos.
Age The older you become, the more likely that you will develop a cancer. This is probably due to an accumulation of damage to cells in the body over time. Also, the body's defences and resistance against abnormal cells may become less good as you become older. For example, the ability to repair damaged cells, and the immune system which may destroy abnormal cells, may become less efficient with age. So, eventually one damaged cell may manage to survive and multiply 'out of control' into a cancer. Most cancers develop in older people.
Lifestyle factors
Diet and other lifestyle factors may increase or decrease the risk of developing cancer. For example:
If you eat a lot of fruit and vegetables you have a reduced risk of developing certain cancers. The exact way in which they protect against cancer is not fully understood. These foods are rich in vitamins and minerals, and also contain chemicals called 'anti-oxidants'. They may protect against damaging chemicals that get into the body. We should all eat at least five portions of fruit and vegetables per day (some experts recommend even more).
Eating too much fatty food possibly increases the risk of developing certain cancers.
The risk of developing certain cancers is increased by: obesity, lack of regular exercise, and drinking a lot of alcohol.
Radiation
Radiation is a carcinogen. For example, exposure to radioactive materials and nuclear 'fallout' can increases the risk of leukaemia and other cancers. Too much sun exposure and sunburn (radiation from UVA and UVB) increase your risk of developing skin cancer.
The larger the dose of radiation, the greater the risk of developing cancer. But note: the risk from small doses such as from a single X-ray test is very small.
Infection
Some viruses are linked to certain cancers. For example, people with persistent infection with the hepatitis B virus or the hepatitis C virus have an increased risk of developing cancer of the liver. But, most viruses and viral infections are not linked to cancer.
Immune system
People with a poor immune system have an increased risk of developing certain cancers. For example, people with AIDS, or people on immunosuppressive therapy.
Your genetic make-up
Some cancers have a strong genetic link. For example, in certain childhood cancers the abnormal gene or genes which may trigger a cell to become abnormal and cancerous are inherited. Other types of cancer may have some genetic factor which is less clear-cut. It may be that in some people their genetic make-up means that they are less resistant to the effect of carcinogens or other factors such as diet.
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