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Taking Care of Your Health

April 30, 8 am to noon

Cancer: Know Your Risk

Emily Kuchinsky, MS, CGC, Certified Genetic Counselor

Sporadic Cancer

Lifetime Probability- Women

Family Cluster

Risk factors for breast cancer

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Hereditary Cancer

• 5-10% of all cancer• Young age of onset• Bilateral or more than one cancer• Cancer in many generations

Br 45

5-10% of Breast Cancer is

Inherited

BRCA 1 and 2

Breast Cancer

The names BRCA1 andBRCA2 stand for breast cancer susceptibility gene 1 and breast cancer susceptibility gene 2, respectively.

Genetic Mutations

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Earlier Age of Cancer Onset in

Hereditary Cancer

Cancer

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Autosomal Dominant Inheritance

• If parent carries mutation, each of their

children would have a 50% chance to

inherit the same mutation

BRCA1-Associated Cancers:

Lifetime Risk

Possible increased risk of other cancers (eg: prostate)

Breast cancer 50%-85% (often early age at onset)

Second primary breast cancer 40%-60%

Ovarian cancer 15%-45%

BRCA2-Associated Cancers:

Lifetime Risk

Increased risk of prostate, melanoma, and

pancreatic cancers (magnitude unknown)

breast cancer (40%-85%)

ovarian cancer (10%-25%)

male breast cancer (5-7%)

Red Flags for Hereditary Breast

and Ovarian Cancer Syndrome• Breast Cancer prior to age 50 or premenopausal• 2 or more family members with breast and/or ovarian

cancer• Personal History of Ovarian Cancer• Personal History of breast cancer in both breasts or a

second breast cancer• Triple Negative Breast Cancer• Male Breast Cancer• Ashkenazi Jewish ancestry• Pancreatic Cancer along with Breast Cancer

Surveillance for Female BRCA

Carriers

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Procedure Age to Begin Frequency

Breast Cancer Surveillance

Breast self-exam training

18 yrs

Clinical breast exam

25 yrs Every 6-12 months

Mammography 25 yrs Yearly

MRI 25 yrs Yearly

Ovarian Cancer surveillance

Pelvic exam 35 yrs in patients not electing RRBSO

Every 6 months

TVUS and CA-125 35 years in patients not electing RRBSO

Every 6 months

Beyond BRCA1/2

www.mayo.edu

Change in Testing Paradigm

• 2012 Next Generation Screening/Launch of Cancer Panels

• 2013 Angelina Jolie disclosed BRCA status

• 2013 Supreme Court Decision

Benefits and Limitations of Panel Testing

• Cost

• One sample submission

• Higher likelihood of receiving positive result

• Possible Change in Medical Management

• Incidental Findings

• Lack of data on risk-benefit ratio for moderate penetrance genes

• Higher likelihood of receiving VUS

• Longer TAT

Benefits Limitations

Family History Suggestive of HNPCC

dx. 55

Colon

Endometrial

dx.

65

dx. 49

dx. 42

dx. 62

Immunohistochemistry

• Identify MMR proteins

• Normally present

• If protein is absent, gene is not being expressed (mutation or methylation)

• Helps direct gene testing by predicting likely involved gene

• MLH1/PMS2

• MSH2/MSH6

MSH2MLH1

MSH6PMS2

Courtesy H. Hampel

Germline MLH1 mutationMLH1 MSH2

Screening and Management

• Increased frequency of colonoscopy

– Every 1-2 years beginning in the 20s

“May consider”: at physician’s discretion due to lack of known efficacy:

• Annual transvaginal ultrasound

• Annual Endometrial biopsy

• CA-125 blood test

• Patient education

NCCN 2012

Screening and Management,

con’d

• May consider:

– EGD for gastric and small bowel cancers,

beginning in 30s, every 3-5 yrs

– Urinalysis, beginning at 25yr

– Annual physical exam

NCCN 2015

Genetic Consult

• Detailed Family History

• Discuss benefits and limitations of genetic

testing

• Sample collection

• Results discussion

Testing may:

Clarify the risk for cancer

Provide options for medical management

Have implications for family members

GINA

• Genetic Information Nondiscrimination

Act of 2008 (GINA)

• Covers: health insurers and employers

• Does NOT cover: life insurance, disability

insurance and long-term care insurance

Options for Individuals with Mutations

Positive test result

Increased cancer screening

Non-surgical prevention

Risk-reducing surgery

Limitations of Testing

• Does not detect all mutations; may not rule out hereditary risk

• Effectiveness of some early detection measures is not proven

• Continued risk of sporadic cancer

How/if would use the information

Speak with family

Identify best person to test first

Check on insurance coverage

How to decide about being tested

Summary

• Cancer is a complex disease

• Some risk factors we cannot change

• Many risk factors can be reduced

• The more you know about your risks, the more

you can take control of your health

• Know your family history

• Discuss your cancer risks with your doctor!

Contact Information

• Emily Kuchinsky, MS

– 443-777-7656

– Emily.Kuchinsky@medstar.net

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