Understanding your cancer diagnosis
Cancer is the name given to the disease that is caused when cells start to divide uncontrollably and spread into surrounding tissues. Your cancer cells are related to your normal cells, but they have some genomic changes (sometimes called variants, mutations, or biomarkers biomarkers A measurable indicator that can be identified in your tumor genome or your blood. Some biomarkers provide physicians with information about how patients with a specific disease will react to a specific drug. Testing for biomarkers is important for cancer patients. Also called variants, mutations, alterations, or gene defects.) in their DNA, compared to the DNA of your healthy cells. Actually, every human has cells that have the potential to become cancerous, but in healthy people they don’t grow uncontrollably. Since cancer cells are related to your unique normal cells, no two cancers are the same. Although cancer diseases are often named after the organ that is the primary site, cancer is not necessarily an organ-specific disease. You may have the same cancer disease as another patient but need a different medicine that targets your unique genomic variants.
Identifying the genomic variants variantsChanges in the patterns in the nucleotides our genes are made of are called variants. Humans share 99.5% of all DNA, the 0.5% that differs between individuals is responsible for all the diversity in how we look and develop, and also how healthy we are. in your tumor cells will help your physician to find the right medication.
Most cancers are linked to genomic variants that happen during our lifetime, sometimes caused by environmental factors, often occurring for reasons that are not fully understood yet. These are called somatic somaticA somatic variant is a DNA change that happens to a person’s genes during their lifetime. The change can be caused by damage to genes due to smoking or exposure to the sun, or by chance. Somatic variants may cause disease or they may be harmless. Cancer growth is associated with somatic variants. variants. An analysis of genomic variants done with MH Guide lists the treatments that are known to be effective against cancers caused by somatic variants.
Some cancers are hereditary, meaning that we inherit a predisposition in the form of variants from our father or mother that significantly increases the risk of getting cancer and also reduces the age of disease onset. These inherited variants are called germline germlineA germline variant is a DNA change that has been inherited from a parent. It passes from an egg cell or a sperm cell into every cell of the body. Germline variants define a person’s characteristics, from eye color to a predisposition of disease. variants. For example, up to 30% of all colon cancers up to 30% of all colon cancersSee Jespersen KW, Hereditary and Familial Colon Cancer, Gastroenterology. 2010 Jun and 10% of breast and ovarian cancer 10% of breast and ovarian cancerSee cancer.org, https://www.cancer.org/cancer/breast-cancer/risk-and-prevention/breast-cancer-risk-factors-you-cannot-change.html is hereditary.
As the variants involved in somatic and hereditary cancers can be different, a genomic test that checks specifically for variants associated with hereditary cancer (for example, a hereditary/phenotype test using MH Mendel or MH BRCA) might be useful before defining any therapy.
The best treatment for a cancer disease depends on the type of the cancer, the stage of the cancer, the general health of the patient, and the biomarkers present in the cancer.
Physicians use the stage to describe the extent of a cancer’s growth and to decide on the treatment they will recommend.
The stage of your cancer is decided by tests done when your cancer is first diagnosed. Sometimes Roman numerals are used (stage IV), sometimes Arabic numerals (stage 4), sometimes numbers and letters are used (stage 3A). The higher the number, the more advanced the cancer. The stage may be revised if new information becomes available, but usually it is kept for the duration of the disease. For example, if your stage II lung cancer spreads to your lymph system, it is a called a stage II metastatic lung cancer, not a stage III lung cancer.
At any stage, a genomic test done on a sample from a biopsy biopsyThis is a procedure by which your physician collects a small sample of cells from your cancer for testing in the lab. Depending on the cancer type, the cells are either taken from the tumor itself, or from bone marrow, or from skin. or resection resectionA procedure by which tissue is surgically removed from your body, for example, to remove all or part of a tumor. Cells can then be collected from the tumor for testing in the lab. is likely to provide important insights into the genomic changes involved in your cancer and help your physician to find a medication that is most likely to be effective based on the genomic variants involved in your tumor.
Cancer, if untreated, often progresses by growing and spreading to other parts of the body (metastatic cancer). Cancer staging measures the size and spread of cancer at the time of diagnosis.
For many cancers with solid tumors, surgery is a commonly chosen first-line treatment during stages I and II. For stage III cancers, one or a combination of the following treatment types can be considered: surgery, radiation, or medication. Medication can be either chemotherapy, targeted therapy, or immunotherapy. For stage IV cancers, treatment can be one or a combination of medications, either using chemotherapy, targeted therapy, or immunotherapy.
Before the fourth stage, the treatment goal is to cure the cancer. After this, with the right medication, the goal is to stop the cancer from spreading, so that patients can optimize their physical well-being and long-term survival.
Your physician might speak of progression-free survival progression-free survivalThe median length of time patients are on a specific treatment before their cancer starts growing again or overall survival overall survivalThe length of time patients are on a specific treatment and still alive..
Cancer staging helps physicians select the best treatment, for example, for breast cancer:
Stage 0 (carcinoma in situ):
abnormal cells were detected, but they haven’t grown into a tumor. They may in the future, or they may never do so.
Stage I (early stage):
the tumor is limited to the primary site.
Stage II (localized):
The cancer is larger but does not yet affect nearby tissues. The lymph nodes may be affected.
Stage III (locally advanced):
the cancer has extended beyond the primary (smaller) site and cancer cells were found in the nearby lymph nodes, maybe also the muscles and skin in the breast area.
Stage IV (distant spread or metastatic cancer):
the cancer has spread from its original site to other parts of the body.
The more you and your physicians know about your cancer, the more precisely focused your treatment can be. Ask your physician if further tests, such as genomic tests , can be done.
Are you happy with your treatment plan? Ask your physician if other treatment options could be considered. You could also consider looking for a specialist who can give you a second opinion.
You will meet many physicians during your cancer treatment. It will make communication easier if you keep a written copy of your pathology report, all your test results, and of your treatment plan. Keep a list of any drugs you take, as well as the dose and the duration of the treatment, and how you felt during the treatment.
Explanations of medical and technical terms
An actionable variant or biomarker is a variant identified in a patient’s genetic test that makes the cancer grow and that can be targeted by a medicine known to be effective against that combination of variant and cancer.
These are the molecules used to build proteins. Proteins are made of chains of amino acids, and the sequence of the amino acids is encoded in our genes.
A measurable indicator that can be identified in your tumor genome or your blood. Some biomarkers provide physicians with information about how patients with a specific disease will react to a specific drug. Testing for biomarkers is important for cancer patients. Also called variants, mutations, alterations, or gene defects.
This is a procedure by which your physician collects a small sample of cells from your cancer for testing in the lab. Depending on the cancer type, the cells are either taken from the tumor itself, or from bone marrow, or from skin.
A segment of DNA or RNA, with information on how the amino acids of a protein are encoded. Most genes have multiple exons.
The study of heredity. If you are born with a cancer-causing gene variant inherited from your mother or father, you have a higher risk of developing cancer. This type of cancer is called hereditary cancer.
The study of genes and their functions. Cancer genomics studies the DNA of cancer cells compared to healthy cells.
Also called genomic profiling, genetic tests, or molecular diagnostics. These are medical diagnostic tests that check whether variations (variants) are present in a person’s genetic code (genome) that tell physicians about the type of cancer they have and how their disease may react to specific drugs. This combination of gene and drug information is called biomarker, from biological + marker.
The basic building blocks of DNA and RNA.
Written by experts, using up-to-date evidence, they provide physicians with recommendations on the best care options.
Also called genomic tests, genomic profiling, genetic tests, or molecular diagnostics, are medical diagnostic tests that check whether variations (variants) are present in a person’s genetic code (genome) that tell physicians about the type of cancer they have and how their disease may react to specific drugs. This combination of gene and drug information is called biomarker, from biological + marker.
The median length of time patients are on a specific treatment before their cancer starts growing again.
Physicians use genomic diagnostic tests to find the medication that will work best for each patient.
The length of time patients are on a specific treatment and still alive.
A procedure by which tissue is surgically removed from your body, for example, to remove all or part of a tumor. Cells can then be collected from the tumor for testing in the lab.
The preparation and fixation of the sample for the lab. This is important for the accuracy of the interpretation of the genomic test results.
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