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.