Breast Cancer  <ul><li>Breast cancer specifically refers to a cancer that forms in tissues of the breast  </li></ul><ul><l...
 
 
Prevalence
Estimated Statistics for US in 2007 New Cases:  Women (178,480)  Men (2030) Deaths:   Women (40,460)  Men (450)
Could you have it? <ul><li>Common Symptoms: </li></ul><ul><ul><li>How the breast or nipple feels: nipple tenderness, lump ...
 
<ul><li>Prognosis: with Breast Cancer, it depends on the severity when detected. Earlier detection yields stronger surviva...
The Genetics of Breast Cancer <ul><li>BRCA1 and BRCA2 are both tumor suppressor genes and mutations lead to an increased r...
Person without a mutated copy of BRCA2 gene Person with a mutated copy of BRCA2 gene Risks for developing Breast Cancer
BRCA2 = Breast Cancer 2, Early Onset <ul><li>Located on the long arm (q) of chromosome 13 </li></ul><ul><li>The protein is...
BRCA2 and Breast Cancer <ul><li>Over 800 mutations of the BRCA2 gene identified </li></ul><ul><li>Lead to the production o...
 
WHO? <ul><li>About 2.3% of individuals of Ashkenazi Jewish descent have a mutated or “altered” BRCA1 or BRCA2 gene.  </li>...
WHO? cont. <ul><li>People with a close family member who is known to have the mutation (which can be inherited from either...
<ul><li>Also, the frequency of this gene mutation is also higher in people of Norwegian, Dutch, and Icelandic origin </li>...
What Does a Positive Result Mean? <ul><li>A person who has inherited a mutation on the BRCA2 gene has an increased RISK of...
What Does an Ambiguous Result Mean? <ul><li>Sometimes, it is not possible to tell whether certain alterations found during...
Why? <ul><li>People get tested so that they can make better, more informed decisions about what actions to take in the fut...
Problems With Getting Tested <ul><li>Most problems associated with getting tested are psychological, for example… </li></u...
More Problems with Getting Tested <ul><li>Receiving genetic counseling before and after testing is very important </li></u...
How? <ul><li>Testing for mutations or alterations in the BRCA2 gene can be done through a simple blood test </li></ul><ul>...
Kaiser Permanente Criteria for BRCA1/2 Genetic Testing <ul><li>Women with breast cancer plus one of the following… </li></...
http://video.on.nytimes.com/?fr_story=0aff7eb1147f98a41e989541f3fc114c8e71dcd2 Video of a “Previvor”
 
Surgery <ul><li>Lumpectomy-tumor and surrounding tissue removed.  </li></ul><ul><li>Partial Mastectomy-cancer tissue is re...
Lumpectomy
Radical Mastectomy
Mastectomy with breast reconstruction
Therapy <ul><li>Radiation therapy- X-rays can be used to shrink or kill the cancer cells at the tumor site. </li></ul><ul>...
<ul><li>Chemotherapy- Drugs are injected or taken orally to kill the cancer cells. </li></ul><ul><li>Clinical treatment- e...
Side Effects <ul><li>Chemotherapy </li></ul><ul><ul><li>Nausea and vomiting </li></ul></ul><ul><ul><li>Loss of appetite </...
<ul><li>Radiation therapy </li></ul><ul><ul><li>Occasional fatigue </li></ul></ul><ul><ul><li>Swelling and heaviness in th...
Post-treatment therapy <ul><li>Doctors may refer their patients to support groups, councilors, or a psychologist for help ...
Reconstructive Breast Implant Surgery
Latissimus Dorsi Flap Breast Reconstruction
TRAM Flap Breast Reconstruciton
Breast Cancer Risk  Calculator! <ul><li>http://www.cancer.gov/bcrisktool/ </li></ul>The room will split up into two halves...
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Surgery

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Surgery

  1. 2. Breast Cancer <ul><li>Breast cancer specifically refers to a cancer that forms in tissues of the breast </li></ul><ul><li>Usually in the ducts – which are the tubes that carry milk to the nipple </li></ul><ul><li>Or the lobules – glands that make milk </li></ul><ul><li>It occurs in both men and women </li></ul><ul><li>Male breast cancer is rare </li></ul>
  2. 5. Prevalence
  3. 6. Estimated Statistics for US in 2007 New Cases: Women (178,480) Men (2030) Deaths: Women (40,460) Men (450)
  4. 7. Could you have it? <ul><li>Common Symptoms: </li></ul><ul><ul><li>How the breast or nipple feels: nipple tenderness, lump on the breast </li></ul></ul><ul><ul><li>How the breast looks: change in size or shape, scaly/red/swollen areas of the skin </li></ul></ul><ul><ul><li>Nipple Discharge </li></ul></ul>
  5. 9. <ul><li>Prognosis: with Breast Cancer, it depends on the severity when detected. Earlier detection yields stronger survival rates </li></ul><ul><li>Examples from the American Cancer Society below: </li></ul><ul><ul><ul><li>100% of women survive breast cancer if it is detected before it starts to spread </li></ul></ul></ul><ul><ul><ul><li>88% of women survive breast cancer if it is detected while it is 2-5cm in diameter and has spread to axillary lymph nodes </li></ul></ul></ul><ul><ul><ul><li>56% of women survive breast cancer if it is detected after it has spread to axillary lymph nodes and to axillary tissues </li></ul></ul></ul><ul><ul><ul><li>49% of women survive breast cancer if it is detected after it has attached itself to the chest wall and chest lymph nodes </li></ul></ul></ul><ul><ul><ul><li>16% of women survive breast cancer if it is detected after it has spread to other parts of the body such as bone, lung or liver </li></ul></ul></ul>
  6. 10. The Genetics of Breast Cancer <ul><li>BRCA1 and BRCA2 are both tumor suppressor genes and mutations lead to an increased risk of developing breast cancer </li></ul><ul><li>BRCA1 and BRCA2 mutations account for 5-10% of breast cancer cases today </li></ul><ul><li>With the mutation, a person is 3-7 times more likely to develop breast cancer </li></ul>
  7. 11. Person without a mutated copy of BRCA2 gene Person with a mutated copy of BRCA2 gene Risks for developing Breast Cancer
  8. 12. BRCA2 = Breast Cancer 2, Early Onset <ul><li>Located on the long arm (q) of chromosome 13 </li></ul><ul><li>The protein is a DNA repair protein </li></ul><ul><li>Works with RAD51 </li></ul><ul><li>Protein large, ~20 exons </li></ul><ul><li>Autosomal Dominant </li></ul>
  9. 13. BRCA2 and Breast Cancer <ul><li>Over 800 mutations of the BRCA2 gene identified </li></ul><ul><li>Lead to the production of an abnormally small, nonfunctional protein unable to repair damaged DNA or fix mutations occurring in other genes </li></ul><ul><li>Mutations lead to cancer when the second (unmutated) copy of BRCA2 gene is lost </li></ul><ul><li>Other cancers: esp. prostate, but also ovarian & pancreatic </li></ul><ul><li>If two copies of the mutated BRCA2 gene inherited = Fanconi anemia </li></ul>
  10. 15. WHO? <ul><li>About 2.3% of individuals of Ashkenazi Jewish descent have a mutated or “altered” BRCA1 or BRCA2 gene. </li></ul><ul><li>The most common BRCA2 mutation found in Ashkenazi Jews is the 6174delT mutation </li></ul><ul><ul><li>This mutation is thought to have a frequency of .3% among Ashkenazi Jewish </li></ul></ul>
  11. 16. WHO? cont. <ul><li>People with a close family member who is known to have the mutation (which can be inherited from either the mother or the father) </li></ul><ul><li>People with a family member who got breast or ovarian cancer before the age of 50 </li></ul><ul><li>Those who have a male family member with breast cancer </li></ul>
  12. 17. <ul><li>Also, the frequency of this gene mutation is also higher in people of Norwegian, Dutch, and Icelandic origin </li></ul>
  13. 18. What Does a Positive Result Mean? <ul><li>A person who has inherited a mutation on the BRCA2 gene has an increased RISK of getting certain types of cancer associated with the mutation </li></ul><ul><li>It is impossible, however, to determine from this result whether or not the individual will actually get cancer </li></ul><ul><li>A mutated BRCA2 gene produces protein that cannot carry out its normal function in helping to fix mutations, leading to a build up of mutated cells in the form of a Tumor </li></ul>
  14. 19. What Does an Ambiguous Result Mean? <ul><li>Sometimes, it is not possible to tell whether certain alterations found during testing will increase the risk of getting cancers associated with the mutation. This is called an ambigious result. </li></ul>
  15. 20. Why? <ul><li>People get tested so that they can make better, more informed decisions about what actions to take in the future </li></ul><ul><li>For example, people who test positively may choose to get preventative treatments involving surgery and/or medication </li></ul><ul><li>Some people testing positively choose to participate in medical research that could decrease their chances of getting cancer </li></ul><ul><li>Different test results can also affect people’s decision about having children </li></ul>
  16. 21. Problems With Getting Tested <ul><li>Most problems associated with getting tested are psychological, for example… </li></ul><ul><ul><li>People cannot deal with their results emotionally </li></ul></ul><ul><ul><ul><li>If they test positive then they may become depressed </li></ul></ul></ul><ul><ul><ul><li>If they test negative they may feel guilty for not having the mutation while other family members do </li></ul></ul></ul><ul><li>Test results can affect people’s decisions regarding marriage and having children </li></ul>
  17. 22. More Problems with Getting Tested <ul><li>Receiving genetic counseling before and after testing is very important </li></ul><ul><li>Confidentiality of results is not guaranteed if they are placed in a patient’s medical records </li></ul><ul><ul><li>Insurance companies may find out and insurance prices could shoot up </li></ul></ul><ul><li>Positive results may lead to genetic discrimination by insurance companies and employers </li></ul>
  18. 23. How? <ul><li>Testing for mutations or alterations in the BRCA2 gene can be done through a simple blood test </li></ul><ul><li>Some insurance policies cover testing while others do not </li></ul><ul><li>450 mutations have been identified in the BRCA2 gene, but there are many more yet to be identified </li></ul><ul><ul><li>If a person has a mutation that has not yet been identified, his/her test result might be incorrect </li></ul></ul><ul><ul><li>Most of these mutations involve insertions or deletions of base pairs </li></ul></ul>
  19. 24. Kaiser Permanente Criteria for BRCA1/2 Genetic Testing <ul><li>Women with breast cancer plus one of the following… </li></ul><ul><li>B. Women with ovarian cancer plus one of the following… </li></ul><ul><li>C. Men with breast cancer plus one of the following… </li></ul><ul><li>D. Women or men without personal history of breast cancer, but with family history of breast and/or ovarian cancer plus one of the following… </li></ul>
  20. 25. http://video.on.nytimes.com/?fr_story=0aff7eb1147f98a41e989541f3fc114c8e71dcd2 Video of a “Previvor”
  21. 27. Surgery <ul><li>Lumpectomy-tumor and surrounding tissue removed. </li></ul><ul><li>Partial Mastectomy-cancer tissue is removed along with a portion of the surrounding breast tissue. </li></ul><ul><li>Total Mastectomy-entire breast is removed. </li></ul><ul><li>Modified Radical Mastectomy-entire breast, the lining over the chest muscles, many of the underarm lymph nodes are removed. </li></ul><ul><li>Radical Mastectomy-entire breast, the underlying chest muscle, and all of the underarm lymph nodes are removed. </li></ul>
  22. 28. Lumpectomy
  23. 29. Radical Mastectomy
  24. 30. Mastectomy with breast reconstruction
  25. 31. Therapy <ul><li>Radiation therapy- X-rays can be used to shrink or kill the cancer cells at the tumor site. </li></ul><ul><li>Hormone therapy- some types of breast cancer have receptors that are affected by different hormones. </li></ul>
  26. 32. <ul><li>Chemotherapy- Drugs are injected or taken orally to kill the cancer cells. </li></ul><ul><li>Clinical treatment- experimental treatments are available for breast cancer. </li></ul>
  27. 33. Side Effects <ul><li>Chemotherapy </li></ul><ul><ul><li>Nausea and vomiting </li></ul></ul><ul><ul><li>Loss of appetite </li></ul></ul><ul><ul><li>Loss of hair </li></ul></ul><ul><ul><li>Mouth sores </li></ul></ul><ul><ul><li>Increased susceptibility to infection </li></ul></ul><ul><ul><li>Premature menopause </li></ul></ul><ul><ul><li>Infertility </li></ul></ul>
  28. 34. <ul><li>Radiation therapy </li></ul><ul><ul><li>Occasional fatigue </li></ul></ul><ul><ul><li>Swelling and heaviness in the breast </li></ul></ul><ul><ul><li>Skin changes similar to sunburn at the affected site </li></ul></ul><ul><ul><li>Breasts can possibly become smaller and firmer after treatment </li></ul></ul><ul><ul><li>Can contribute to swelling of the arm if underarm is irradiated after surgery. </li></ul></ul><ul><li>Hormone therapy </li></ul><ul><ul><li>Depends on the specific medication used and the individual patient </li></ul></ul><ul><ul><li>A doctor should be consulted about the possible side effects before beginning treatment. </li></ul></ul>
  29. 35. Post-treatment therapy <ul><li>Doctors may refer their patients to support groups, councilors, or a psychologist for help in dealing with the aftermath of the disease and treatment. </li></ul><ul><li>Breast reconstruction surgery </li></ul><ul><ul><li>Latissimus Dorsi flap: a section of skin, fat, and latissimus dorsi muscle is transferred from the back to the breast area and shaped into a natural-looking breast. </li></ul></ul><ul><ul><li>TRAM flap: a section of skin, fat, and muscle is transferred from the lower half of the abdomen to the breast area and shaped into a natural-looking breast. </li></ul></ul><ul><li>Breast Implants </li></ul>
  30. 36. Reconstructive Breast Implant Surgery
  31. 37. Latissimus Dorsi Flap Breast Reconstruction
  32. 38. TRAM Flap Breast Reconstruciton
  33. 39. Breast Cancer Risk Calculator! <ul><li>http://www.cancer.gov/bcrisktool/ </li></ul>The room will split up into two halves. As we go through the questions, choose the answers that you think will maximize a person’s risk of getting breast cancer.

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