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Breast Cancer • Breast cancer specifically refers to
a cancer that forms in tissues of the breast
• Usually in the ducts – which are the tubes that carry milk to the nipple
• Or the lobules – glands that make milk
• It occurs in both men and women• Male breast cancer is rare
Prevalence
Estimated Statistics for US in 2007 New Cases:
Women (178,480) Men (2030)
Deaths: Women (40,460) Men (450)
Could you have it?Common Symptoms:
How the breast or nipple feels: nipple tenderness, lump on the breast
How the breast looks: change in size or shape, scaly/red/swollen areas of the skin
Nipple Discharge
Prognosis: with Breast Cancer, it depends on the severity when detected. Earlier detection yields stronger survival rates
Examples from the American Cancer Society below:
100% of women survive breast cancer if it is detected before it starts to spread
88% of women survive breast cancer if it is detected while it is 2-5cm in diameter and has spread to axillary lymph nodes
56% of women survive breast cancer if it is detected after it has spread to axillary lymph nodes and to axillary tissues
49% of women survive breast cancer if it is detected after it has attached itself to the chest wall and chest lymph nodes
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
The Genetics of Breast CancerBRCA1 and BRCA2 are
both tumor suppressor genes and mutations lead to an increased risk of developing breast cancer
BRCA1 and BRCA2 mutations account for 5-10% of breast cancer cases today
With the mutation, a person is 3-7 times more likely to develop breast cancer
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
Located on the long arm (q) of chromosome 13
The protein is a DNA repair protein
Works with RAD51Protein large, ~20
exonsAutosomal
Dominant
BRCA2 and Breast CancerOver 800 mutations of the BRCA2 gene
identifiedLead to the production of an abnormally
small, nonfunctional protein unable to repair damaged DNA or fix mutations occurring in other genes
Mutations lead to cancer when the second (unmutated) copy of BRCA2 gene is lost
Other cancers: esp. prostate, but also ovarian & pancreatic
If two copies of the mutated BRCA2 gene inherited = Fanconi anemia
WHO?About 2.3% of individuals of Ashkenazi
Jewish descent have a mutated or “altered” BRCA1 or BRCA2 gene.
The most common BRCA2 mutation found in Ashkenazi Jews is the 6174delT mutation This mutation is thought to have a frequency
of .3% among Ashkenazi Jewish
WHO? cont.People with a close family member who is
known to have the mutation (which can be inherited from either the mother or the father)
People with a family member who got breast or ovarian cancer before the age of 50
Those who have a male family member with breast cancer
Also, the frequency of this gene mutation is also higher in people of Norwegian, Dutch, and Icelandic origin
What Does a Positive Result Mean?
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
It is impossible, however, to determine from this result whether or not the individual will actually get cancer
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
What Does an Ambiguous Result Mean?
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.
Why?People get tested so that they can make
better, more informed decisions about what actions to take in the future
For example, people who test positively may choose to get preventative treatments involving surgery and/or medication
Some people testing positively choose to participate in medical research that could decrease their chances of getting cancer
Different test results can also affect people’s decision about having children
Problems With Getting TestedMost problems associated with getting tested
are psychological, for example…People cannot deal with their results emotionally
If they test positive then they may become depressed
If they test negative they may feel guilty for not having the mutation while other family members do
Test results can affect people’s decisions regarding marriage and having children
More Problems with Getting TestedReceiving genetic counseling before and
after testing is very importantConfidentiality of results is not
guaranteed if they are placed in a patient’s medical recordsInsurance companies may find out and
insurance prices could shoot upPositive results may lead to genetic
discrimination by insurance companies and employers
How?Testing for mutations or alterations in the
BRCA2 gene can be done through a simple blood test
Some insurance policies cover testing while others do not
450 mutations have been identified in the BRCA2 gene, but there are many more yet to be identifiedIf a person has a mutation that has not yet been
identified, his/her test result might be incorrectMost of these mutations involve insertions or
deletions of base pairs
Kaiser Permanente Criteria forBRCA1/2 Genetic Testing
A. Women with breast cancer plus one of the following…
B. Women with ovarian cancer plus one of the following…
C. Men with breast cancer plus one of the following…
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…
http://video.on.nytimes.com/?fr_story=0aff7eb1147f98a41e989541f3fc114c8e71dcd2
Video of a “Previvor”
SurgeryLumpectomy-tumor and surrounding tissue
removed. Partial Mastectomy-cancer tissue is removed
along with a portion of the surrounding breast tissue.
Total Mastectomy-entire breast is removed.Modified Radical Mastectomy-entire breast,
the lining over the chest muscles, many of the underarm lymph nodes are removed.
Radical Mastectomy-entire breast, the underlying chest muscle, and all of the underarm lymph nodes are removed.
Lumpectomy
Radical Mastectomy
Mastectomy with breast reconstruction
TherapyRadiation
therapy- X-rays can be used to shrink or kill the cancer cells at the tumor site.
Hormone therapy- some types of breast cancer have receptors that are affected by different hormones.
Chemotherapy- Drugs are injected or taken orally to kill the cancer cells.
Clinical treatment- experimental treatments are available for breast cancer.
Side EffectsChemotherapy
Nausea and vomitingLoss of appetiteLoss of hairMouth soresIncreased susceptibility to infectionPremature menopauseInfertility
Radiation therapyOccasional fatigueSwelling and heaviness in the breastSkin changes similar to sunburn at the affected
siteBreasts can possibly become smaller and firmer
after treatmentCan contribute to swelling of the arm if underarm
is irradiated after surgery.Hormone therapy
Depends on the specific medication used and the individual patient
A doctor should be consulted about the possible side effects before beginning treatment.
Post-treatment therapyDoctors may refer their patients to support groups,
councilors, or a psychologist for help in dealing with the aftermath of the disease and treatment.
Breast reconstruction surgeryLatissimus 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.
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.
Breast Implants
Reconstructive Breast Implant Surgery
Latissimus Dorsi Flap Breast Reconstruction
TRAM Flap Breast Reconstruciton
Breast Cancer Risk Calculator!
http://www.cancer.gov/bcrisktool/
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.