Are you at risk for breast cancer ?


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Summit Medical Group Senior Breast Surgeon Jerrold S. Lozner, MD, MHA, FACS and Genetic Counselor Nicee Singer Schonberger, MS, CGC, presented this lecture about current, state-of-the-art risk assessment tools, genetic counseling and high risk monitoring at our Berkeley Heights, NJ Campus

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Are you at risk for breast cancer ?

  1. 1. ARE YOU AT RISK FOR BREAST CANCER? Jerrold S. Lozner, M.D., MHA, FACS MHA FACS, ASBS November 10, 2011
  2. 2. Definition of Risk• Understanding risk involves assessing the possibility of suffering harm or loss.• A risk f i k factor i anything that increases your chances of is hi h i h f suffering harm or loss.• We are going to analyze the factors that increase the risk for breast cancer and to evaluate the options that may mitigate that risk.
  3. 3. Breast Cancer Facts• All women are at risk for breast cancer.• Your breast cancer risk increases as you get older.• Most women who develop breast cancer have no other risk factors.• Although breast cancer is more common in women over the age of 40, younger women can also develop breast cancer.• Breast cancer is 100 times more common in women than men.
  4. 4. Breast Cancer Facts• One in eight women in the United States will be diagnosed with breast cancer in her lifetime.• A Approximately 95% of all breast cancers in the United i l f ll b i h U i d States occur in women over the age of 40.• The five year survival rate for breast cancer when caught early before it spreads beyond the breast is 98%.• An estimated 230,480 women and 2140 men will be diagnosed with invasive breast cancer in the United States di d ihi i b i h i dS in 2011. An estimated 39,520 women and 450 men will die from the disease in 2011.
  5. 5. Breast Cancer Facts• There are 2.5 million breast cancer survivors in the United States today, the largest group of cancer survivors in the country. country
  6. 6. Risk Factors• Being a woman• Getting older• Inherited mutations in the BRCA1 or BRCA2 breast cancer genes• Previous biopsy that showed lobular carcinoma in situ (LCIS)• Family history of breast cancer• High breast density on mammogram• Exposure to large amounts of radiation
  7. 7. Risk Factors• Personal history of breast or ovarian cancer• Starting menopause after age 55• Never having children• Having first child after age 35• Overweight after menopause O i ht ft• More than one alcoholic drink each day• Postmenopausal use of estrogen/estrogen plus progestin• Current or recent use of birth control pills
  8. 8. GenderThe main reason women develop breast cancer 100 timesmore frequently than men is because a woman’s breastcells are constantly exposed to the growth-promoting growth promotingeffects of the female hormones estrogen and progesterone.
  9. 9. Aging• About 1 out of 8 invasive breast cancers are found in women younger than 45, while about 2 of 3 breast cancers are found in women age 55 or older. older
  10. 10. Family History of Breast Cancer• Having one first-degree relative (mother, sister, or daughter) with breast cancer approximately doubles a woman s risk. woman’s risk Having 2 first degree relatives increases the first-degree risk about 3-fold.• The exact risk is not known but women with a family y history of breast cancer in a father or a brother also have an increased risk of breast cancer.• Less than 15% of women with breast cancer have a family member with the disease.
  11. 11. Personal History of Breast Cancer• A woman with cancer in one breast has a 3 to 4 fold increased risk of developing a new cancer in the other breast or in another part of the same breast breast.• This is different from a recurrence of the first cancer.
  12. 12. Race and Ethnicity• Caucasian women are slightly more likely to develop breast cancer than are African-American women, but it is more common in African-American women under the age African American of 45.• Asian, Hispanic, and Native-American women have a p lower risk of developing breast cancer.
  13. 13. Dense Breast Tissue• Women with denser breast tissue as seen on a mammogram have more glandular tissue and less fatty tissue, tissue and have a higher risk of breast cancer. cancer• Dense breast tissue makes it more difficult for radiologists to spot problems on mammograms. p p g
  14. 14. Certain “Benign” Breast Conditions• Some conditions found on breast biopsy are more closely linked to breast cancer risk than others.
  15. 15. Non-proliferative Lesions• These conditions are not associated with overgrowth of breast tissue and do not seem to affect breast cancer risk.• Fib Fibrocystic disease i di• Mild hyperplasia• Duct ectasia• Simple fibroadenoma• A single papilloma g p p• Fat necrosis• Mastitis
  16. 16. Proliferative Lesions Without Atypia• These conditions show excessive growth of cells in the ducts or lobules of breast tissue and may increase risk 1.5 to 2 times normal. normal• Usual ductal hyperplasia• Complex fibroadenoma• Sclerosing adenosis• Several papillomas• Radial scar
  17. 17. Proliferative Lesions With Atypia• In theses conditions, there is an overgrowth of cells with some of the cells no longer appearing normal. These may increase breast cancer risk 4 to 5 times higher than normal. normal• Atypical ductal hyperplasia (ADH)• Atypical lobular hyperplasia (ALH)
  18. 18. Lobular Carcinoma in situ• Cells that look like cancer cells grow in the lobules of the glands of the breast, but they do not grow through the wall of the lobules. It differs from DCIS in that it does not seem lobules to become an invasive cancer if not treated.• However, women with LCIS have a 7 to 11 fold increased risk of developing invasive breast cancer in either breast.
  19. 19. Menstrual Periods• Women who have had more menstrual cycles because they started menstruating at an early age (before age 12) and/or went through menopause at a later age (after age 55) have a slightly higher risk of breast cancer.• The increased risk may be caused by a longer lifetime y y g exposure to the hormones estrogen and progesterone.
  20. 20. Previous Chest Radiation• Women who as children or young adults had radiation therapy to the chest area for another cancer such as Hodgkin s Hodgkin’s Disease or non Hodgkin lymphoma have a non-Hodgkin significantly increased risk for breast cancer. If chemotherapy was also given, it may have stopped ovarian hormone production for some time, lowering the risk.• Radiation treatment after age 40 does not seem to increase breast cancer risk risk.
  21. 21. Having Children• Women who have had no children or who had their first child after age 30 have a slightly higher breast cancer risk.• H i many pregnancies and becoming pregnant at a Having i db i young age reduces breast cancer risk. Pregnancy reduces a woman’s total number of lifetime menstrual cycles, which y may be the reason for this effect.
  22. 22. Recent Oral Contraceptive Use• Women using birth control pills have a slightly greater risk of breast cancer than women who have never used them.• W Women who stopped using birth control pills more than 10 h d i bi h l ill h years ago do not seem to have increased breast cancer risk.
  23. 23. Hormone Therapy After Menopause• The Women’s Health Initiative found that those women taking a combination of estrogen and progestin increased their risk of developing breast cancer by 26% (and increased their risk for heart attack by 29% and stroke by 42%).• Among women who stopped taking HRT, rates of breast cancer significantly declined within one year.• Women who stayed on HRT for 5 years doubled their annual risk for breast cancer.
  24. 24. Recommendation on HRT• Women at high risk for breast cancer and those who have been diagnosed with breast cancer should avoid HRT.• W Women at low risk for breast cancer can use HRT to l i kf b control menopausal symptoms, but try for shortest possible duration and lowest possible dose. p• HRT does seem to reduce the risk of colorectal cancer and osteoporosis.
  25. 25. Breast Feeding• Some studies suggest that breast feeding may slightly lower the risk of breast cancer especially if continued for 1.5 1 5 to 2 years. However this is not a common practice in years However, the US.• The explanation may be that breast feeding reduces a p y g woman’s total number of lifetime menstrual cycles.
  26. 26. Alcohol• The use of alcohol is clearly linked to an increased risk of developing breast cancer, with a relationship to the amount consumed. consumed• Those women who have 2 to 5 drinks per day have about 1.5 times the risk of developing breast cancer as compared p g p to non-drinkers.• The American Cancer Society recommends that women have no more than one alcoholic drink per day. day
  27. 27. Being Overweight or Obese• Being overweight has been found to increase breast cancer risk especially for women after menopause. After menopause when the ovaries stop making estrogen, most estrogen of a woman’s estrogen comes from fat tissue.• The risk appears to be increased for women who gained pp g weight as an adult but may not be increased in those who have been overweight since childhood.
  28. 28. Physical Activity• Evidence is growing that physical activity in the form of exercise reduces breast cancer risk.• R l recreational activity such as brisk walking lowered Regular i l i i h b i k lki l d risk more than doing household chores.• Physical activity throughout life was the most protective, but exercising after menopause was more productive than exercising only earlier in life.• Recommendation: Exercise for at least 30 minutes 5 times d i i f l i i per week.
  29. 29. Breast Implants• Breast implants do not increase breast cancer risk.
  30. 30. Which are the Major Risk Factors?• Mutation associated with hereditary cancer• Family history• First degree relative <50 years• Chest radiation <30 years• DCIS, LCIS, ADH, DCIS LCIS ADH ALH• Prior breast or ovarian cancer• Age
  31. 31. Which are the Minor Risk Factors?• Late or no childbirth• Early menarche• Late menopause• HRT• Postmenopausal obesity P t l b it• Sedentary lifestyle• Alcohol• Smoking
  32. 32. Major Factors: Absolute Risk Per Year• BRCA ½ 2-3%• DCIS 1-2%• LCIS 1%• Atypia and Family History 1%• Atypia Alone At i Al 0.5% 0 5%• Prior Invasive Breast Cancer 0.75%• Age >60 0 33% 0.33%
  33. 33. Risk Reduction Options• All Women Lifestyle Changes 30-45%• Atypia Tamoxifen 86%• High Gail Risk Tamoxifen 49%• SERM (Selective estrogen receptor modulator) ( g p )
  34. 34. Recommendations• Limit alcohol• Avoid long term estrogen therapy• Avoid adult weight gain• Exercise• Make healthy di t M k h lth dietary choices h i• BSA versus BSE• Annual screening mammogram• Understand your risk
  35. 35. Modified Gail Risk Model• This is a computer-based multivariate logistic regression model that uses:• Age• Race• Age at menarche• Age at first live birth or nulliparity• Number of first degree relatives with breast cancer• Number of previous breast biopsies• Histology of the breast biopsiesTo produce actuarial estimates of future breast cancer risk.
  36. 36. Breast Cancer Screening• Normal Risk:• Ages 20-40: Clinical breast exam every 1-3 years Breast awareness Age >40: Annual clinical breast exam Annual mammogram Breast awareness
  37. 37. Breast Cancer Screening B tC S i• Increased Risk:• Prior chest radiation therapy• 5 year risk > 1.7 Gail Model y• Lifetime risk > 20%• Pedigree suggestive of genetic predisposition• LCIS/ Atypical hyperplasia• Prior history of breast cancerUse Combination fU C bi i of more frequent complete breast exam and f l b d mammograms; Breast awareness; MRI; Risk reduction strategies; Genetic counseling g g
  39. 39. TOPICS FOR TODAY S DISCUSSION TODAY’SWhat is genetic counseling and testing and who should consider it?What information does genetic testing provide about cancer risks and what can be done to manage these risks?What are the pros and cons of genetic testing?What are the current areas of research and future directions?
  40. 40. WHAT IS GENETIC COUNSELING AND HOW CAN ITHELP?Genetic counseling is a discussion focused around risk assessment; options for medical management; and your perception of the potential benefits, risks, and limitations of genetic testing g gGenetic counseling can help you make informed decisions about whether and what type of genetic testing may be useful and steps that may be taken p p y protect yyour and your family’s healthGenetic counseling can help you develop and implement short and long term p g plans for what to do with information obtained from your risk assessment
  41. 41. WHAT IS GENETIC TESTING? Genetic testing refers to the assessment of inherited changes that result in increased susceptibility to cancer Alterations in several genes contribute to increased risk for breast cancer, the most cancer common of which are called BRCA1 and BRCA2 These genes were identified in the mid 1990s and another major gene has not been found since. This is important because, depending on the setting, 30-80% of families with breast cancer will not harbor a mutation in these genes.
  42. 42. WHAT ROLE DO GENES PLAY IN THE DEVELOPMENT OFBREAST AND OVARIAN CANCER? 15%- 20% 5%-10% ~10% Breast Cancer Ovarian Cancer Sporadic Family a y clusters Hereditary
  43. 43. BRCA1 AND BRCA2 ALTERATIONS IN THE ASHKENAZI JEWISH POPULATION An estimated 1 in 40 Ashkenazi Jews carries a BRCA1 or BRCA2 mut (regardless of family history) BRCA1 187delAG 5385insC• In non-Jewish individuals, only BRCA2about 1 i 400 will have a gene b t in ill halteration 6174delT• There are > 1,000 alterations ineach gene g
  44. 44. HOW DO YOU KNOW IF YOU MAY BE AT-RISKFOR HEREDITARY BREAST CANCER?YOUR FAMILY HISTORY IS KEY • Collect as much family history as you can, document it, share it with your relatives, and update it • Try to obtain medical records (pathology reports) or death certificates • This information can be used to provide a general (qualitative) and numerical estimate of your cancer risk and/or your chance of having a gene mutation
  45. 45. WHAT FEATURES ARE SUGGESTIVE OFHEREDITARY BREAST/OVARIAN CANCER?  Breast cancer diagnosed before age 50  Breast cancer in 2 or more close relatives (same side of the family), especially if one was diagnosed before age 50  Ovarian cancer, with or without a family history of breast cancer (even just one relative with this cancer i ( j t l ti ith thi is significant)  Breast and ovarian cancer in the same woman  Breast cancer and relatives with prostate or pancreatic cancer  Male breast cancer usually in conjunction with female cancer, breast cancer in one or more close relatives  Ashkenazi Jewish ancestry
  46. 46. The Family Pedigree: Initiate testing with a relative g who has had breast or ovarianBreast cancer.dx 61 70 Breast Breast 80 79 dx 51 dx 49 40 38 Breast dx 37
  47. 47. BRCA1/2 ASSOCIATED CANCERS: LIFETIME RISKS Breast cancer 55%-85% (often early age at onset) Breast cancer, opposite breast: 40%-65% Ovarian cancer: 24%-44% • Risks for initial breast cancer and ovarian cancer are tend to be lower for women with BRCA2 mutations • These are published risk ranges; risks in clinical counseling vary
  48. 48. ADDITIONAL CANCER RISKS IN BRCA1/2 CARRIERS Cancers affecting men - prostate - breast (risk less than 10%) Other cancers (risk less than 10%) - pancreatic - stomach - melanoma - other sites to be determined th it t b d t i d
  49. 49. REDUCING RISK: WHAT ARE THE OPTIONS? Surgery does not eliminate the risk of cancer - Risk reducing mastectomy: an option - Risk reducing ovary removal (oophorectomy) – significantly reduces the risk of ovarian cancer; also reduces breast cancer risk in premenopausal women: RECOMMENDED BY AGE 40 OR AFTER CHILDBEARING A very significant implication of oophorectomy in young women is that it results in premature menopause. It can be challenging to effectively manage any associated symptoms. Increased surveillence Drugs may play a role in risk reduction. But other risks and benefits must be g considered. id d - Tamoxifen, Raloxifene, Aromatase Inhibitors? - Oral contraceptives
  50. 50. Insurance Issues Concern about genetic discrimination has been a persistent barrier to individuals’ seeking g g genetic counseling and testing g g • There have been only a few documented cases of insurance discrimination based on genetic testing or genetic conditions • Most insurers will pay for cancer susceptibility testing, although risk th h ld and medical necessity may need t lth h i k thresholds d di l it d to be demonstrated • State laws may provide broader coverage than federal laws; GINA sets a minimum standard
  51. 51. GENETIC INFORMATION NONDISCRIMINATIONACT OF 2008 WHAT GINA DOES 2008: • Prohibits use of an individual’s genetic information in setting eligibility or premium or contribution amounts by group and individual health insurers. • Prohibits health insurers from requesting or requiring an individual to take a genetic test. • Prohibits use of an individual’s genetic information by employers in employment decisions such as hiringhiring, firing, job assignments, and promotions. • Prohibits e p oye s from requesting, requiring, o o b s employers o eques g, equ g, or purchasing genetic information about an individual employee or family member.
  52. 52. Potential Benefits of BRCA1/2 Testing • Identifies high-risk individuals • Id tifi noncarriers i f ili with a Identifies i in families ith known alteration • Informs medical decision-making • May relieve anxiety and provide other psychological benefits
  53. 53. POTENTIAL RISKS AND LIMITATIONS OF BRCA1/2TESTING Testing does not detect all mutations and may not rule out hereditary risk Women who test negative f an alteration in their family for f still have a risk of developing cancer Efficacy of some interventions not well established y May result in mild distress or anxiety; survivor guilt May elicit concerns about insurance discrimination
  54. 54. Concluding Thoughts • The choice to be tested is a personal one and should be made after genetic counseling and careful consideration of the potential implications for yourself and your family. Take time to think about these issues. • Genetic testing can be a life altering, powerful experience. No two people respond the same way to the information. Sometimes the reaction is not information what people anticipate. • We are more than what’s in our genes. Genetic what s testing won’t provide all the answers, but it may provide important, if not life saving, pieces of information. information