Posts Tagged ‘cure’

Breast Cancer: Symptoms, Causes, Genetics and Genetic Testing

May 11, 2010

Breast cancer is defined as cancer that originates in the breast cells. Women are 100 times more likely to develop it than men. It is the second most common form of cancer after lung cancer. Every year about 200,000 American women are diagnosed with breast cancer. It killed half a million people in 2005.

Breast cancer can spread through the lymphatic system or blood vessels to other parts of the body. This spread is referred to as metastasizing. It can metastasize to the lungs, brain, liver or bones.

There are non-specific and specific symptoms. Non-specific means that they could be symptoms for some other condition. Some non-specific symptoms include:

  • bone and joint pain
  • chills
  • discharge from one nipple
  • fever
  • jaundice.

Some specific symptoms include change in the size or shape of the breast or nipple and a lump in the breast or the lymph nodes in the armpit and/or collarbone

Inflammatory breast cancer occurs when breast cancer cells enter the small lymph vessels next to the skin. Symptoms include:

  • orange peel texture of the skin
  • pain
  • redness
  • swelling
  • warmth.

Paget’s disease of the breast also manifests itself in the skin and resembles eczema. Symptoms may include:

  • discharge
  • itching
  • lump
  • mild flaking of the skin around the nipple
  • redness
  • sensitivity
  • tingling.

Causes of Breast Cancer

Breast cancer stems from a combination of hereditary and environmental influences. People who have a family history with multiple cases of breast or ovarian cancer are at higher risk of getting breast cancer. Breast cancer is more common if one has an Ashkenazi (Eastern European) Jewish background. It usually occurs sporadically and is not inherited. Some risk factors include:

  • age
  • alcohol intake
  • childbearing
  • environmental factors like radiation and tobacco use
  • high fat intake
  • hormones
  • obesity
  • sex.

Genetics of Breast Cancer

About 5-10% of those diagnosed have a hereditary form of breast cancer. If a person inherits a mutation in the breast cancer 1 (BRCA1) or breast cancer 2 (BRCA2) genes, she is at higher risk of developing breast cancer. It is rare to inherit a mutation. Only one in 1000 has a mutation in one of these genes.

People who have the mutation may get cancer or may lead a long healthy life. Having a mutation does not guarantee the individual will develop cancer. About 13% of the population develops breast cancer. Those with a mutation in either of these genes are three to seven times more likely to get it.

How Genetic Testing Is Done for Breast Cancer Patients

Genetic testing looks at sequences of DNA to identify changes. The sequence of DNA has been determined for healthy people. If there is a mutation in a gene, it can make a person more susceptible to certain diseases. Certain inherited conditions have been linked to mutations in certain genes. Genetic testing is the comparison of the sequence of sample DNA to the agreed upon sequence for a normal gene to identify these risks.

Genetic testing for breast cancer is only performed on people who are at high risk of getting cancer. This blood test identifies the presence of mutations in the BRCA genes. A breast cancer genetic testing lab determines the patient’s risk of getting cancer. Genetic counseling is included in this test to make sure people are informed of their risk and options for the future.

Progress toward a Cure

Treatment for breast cancer today relies heavily on surgery, chemotherapy and radiation. Gene therapy is one option of curing breast cancer. It is not yet possible, but eventually doctors will be able to fix the mutations in the genes. Research continues to search for more genes that influence a person’s risk of developing breast cancer.

Some ways to prevent breast cancer include:

  • Chemoprevention – Some medications, such as tamoxifen, decrease one’s chance of developing cancer.
  • Mastectomy – Preventative removal of breast tissue reduces the risk of cancer by 90%.
  • Surveillance – More frequent self-exams, clinical exams, MRI’s and mammograms discover cancer earlier.