Hereditary Cancers-Genetic Screening and Prevention | City of Hope cancer research hospital near Los Angeles

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Hereditary Cancers Screening and Prevention

Why Choose City of Hope?

Sometimes hereditary or genetic factors can increase your risk for cancer. City of Hope’s Cancer Screening & Prevention Program^sm is designed to help you understand more about your personal cancer risks. Armed with this knowledge, you can learn how to minimize your risks and stop cancer from developing. Start here to see how you can do your part to outsmart cancer!

Introduction
City of Hope's Cancer Screening and Prevention Program^sm offers a comprehensive cancer risk assessment that focuses on family history and genetics, taking into account environmental and lifestyle factors. Following this assessment, the program provides concrete steps you can take to mitigate these risks and prevent cancer from developing.

Cancer Screening and Prevention Program^smoperates in partnership with Banner Health System in Phoenix, Arizona to provide cancer screening services at Banner Good Samaritan Medical Center and Banner Desert Medical Center and has similar partnerships with other NCI-designated cancer centers throughout the Western United States.

Key Indicators

Know the Key Indicators of Hereditary Cancer

Many people believe that cancer strikes randomly. But that’s not always true. Sometimes hereditary or genetic factors increase an individual’s risk for cancer. Recent advances in research clearly indicate a link between genes and cancer.

This link is often strongest in families where:

Cancer occurs at a much younger age than average
Cancer occurs in several close relatives
More than one type of cancer occurs in the same close relative
Cancer occurs in paired organs (i.e. cancer in both breasts)
Cancer occurs in more than one generation
Several rare cancers occur in a family

Whereas some commontypes of cancer, such as breast, ovarian, colorectal or prostate cancer, may or may not be inherited, other types of cancer (usually much rarer), are almost always inherited, such asmedullary thyroid cancer.

Counseling and Screening Benefits

Who Might Benefit from Genetic Cancer Risk Assessment?

Just because your immediate family history doesn’t suggest an obvious pattern of hereditary cancer doesn’t mean you aren’t at risk. Your extended family history is equally important.Small families may have fewer cases of cancer or generations may be "skipped" if the cancer expression is sex-limited (meaning a certain kind of cancer only appears in one sex, such as ovarian cancer or prostate cancer). Furthermore, the ethnic origin of your ancestors may play a role in determiningwhether cancer could be hereditary.

Establishing a Frame of Reference

In order to determine the best course of action in assessing cancer risk, we need to have a basic frame of reference. This involves obtaining an accurate family history regarding the occurrence of cancer(s) in you, your immediate and extended family – your children, siblings, parents, grandparents, aunts, uncles and cousins on both sides. The type of cancer and the age of onset are extremely important for us to know.

Initial Screening Criteria for Patients Who Should Have Genetic Cancer Risk

Assessment We look at the number of your relatives with cancer, the closeness of their biological relationship to you, and the specific types of cancer in your family.For more specific information on who should be referred for genetic cancer risk assessment, please see our referral guidelines.

Is Genetic Counseling Right for Me?

Is Genetic Counseling Right for Me

Genetic testing is a powerful tool, and raises many important issues for individuals and their families. The following are frequently asked questions and important information you should know before deciding if cancer risk testing is useful for you.

What is genetic counseling?

Cancer risk genetic counseling entails consulting with a team of health care professionals (usually a genetic counselor, physician or nurse-geneticist) to review personal and family history, help determine cancer risk, and provide recommendations to reduce cancer risk and detect cancer earlier.

What is the role of the genetic counselor?

A genetic counselor will evaluate the likelihood of a genetic trait that is responsible for cancer in an individual or their family and help people understand the genetic, medical, psychological, and other issues related to genetic testing.

Before Genetic Testing: Genetic counseling before genetic testing helps individuals make a truly informed decision about whether testing is right for them.

After Genetic Testing: Genetic counseling is necessary after testing to explain the meaning and implications of the test result, including determining if further testing is necessary.

What is genetic testing for cancer risk?

Genetic testing for cancer risk is used to determine if a genetic change, called a mutation, is present in genes that predispose persons to developing cancer at an earlier age than would be expected. Having a predisposition to developing cancer does not mean you will definitely develop cancer, but does increase your risk. Knowing this may enable you and your doctor to make health care decisions to prevent or reduce your chances for cancer.

What are the benefits of genetic testing?

Testing could identify who is at high risk for particular cancers and who is not. A person found to have a cancer-causing mutation could make healthcare decisions to prevent or lower his/her chances for cancer or help detect cancer at an early stage. A person who does not have the mutation that is responsible for cancer in their family would not need extra healthcare exams and tests, and may be relieved to learn that they, and their children, are not at increased cancer risk because of this mutation. Genetic testing may help determine the cause of cancer for you or your family.

How do genes and heredity affect cancer risk for my children?

Genes are made up of DNA, the hereditary blueprint that makes us who we are. We have two copies of each gene. We get our genes from our parents, inheriting one copy of a gene from our mother and another copy from our father. When a parent has a mutation, there is a 50 percent chance of passing on the mutation to each of his or her children, since each child inherits either the normal copy of the gene or the copy with a mutation.

Are all cancers hereditary?

No. In fact, only about five to 10 percent of all cancers are inherited. Most cancers are due to an accumulation of damage to the DNA in our cells. This occurs naturally as we age, with most cancers occuring at older ages (50+). The development of cancer is a multi-step process. This means that several different changes have to occur in the cell's DNA before cancer develops. An individual who inherits a cancer gene mutation is already one step ahead in this process. Thus, fewer steps have to happen before cancer develops, and cancer may be seen at younger ages than otherwise expected.

What could indicate that I might be at hereditary risk for cancer?

Cancer is a common disease. It is expected that families will have one or more relatives with some form of cancer. Nevertheless, several clues exist to suggest hereditary cancer in a family. These clues include:

Cancer at an early age
More than one generation with cancers
Same type of cancer in at least two closely related relatives
Multiple primaries (more than one type of cancer in the same person)
Bilateral disease (cancer occurring in both sides of a paired organ, e.g., cancer in both breasts)
Multifocal disease (many primary tumors arising in the same organ)
Rare cancers clustered in the same side of the family
Breast & ovarian cancer in the same side of the family
Breast cancer that occurs in a male
Colon and uterine cancer in the same side of the family
Multiple colongrastrointestinal polyps in a young individual (e.g., 10 in a person)

The genes involved with cancer can come from either side of the family. Thus, a cancer gene trait may be passed to a daughter through her father who did not have cancer. Accurately interpreting family history information is an essential aspect of genetic counseling.

What if I don't have much information about my family?

Although a large family may provide more clues to interpreting hereditary risk, many of us have small families or limited information available about our family's past. Sometimes various strategies can be used to find out more information, such as contacting relatives, searching for medical records or obtaining copies of death certificates.

What are the limitations of genetic testing?

Because testing techniques vary, it is important that your genetic counseling team explain the method of testing being used to look for a mutation and the chances that method finds a mutation. Different methods have different levels of sensitivity, therefore, even with the best technology, in some cases testing may not be able to find an existing cancer-causing mutation for you or your family.

Are my test results confidential?

Test results will be part of your medical record, but as all medical records, they will never be shared with anyone other than yourself without your permission, as the law indicates. If your health insurance company paid for your testing, the insurer could ask for the test result. The pros and cons of disclosing your result to others will be discussed with you. Participation in a research study is strictly confidential, as outlined in the requisite informed consent document provided to all study participants.

What are the psychological effects of testing?

Individuals differ in their thoughts about genetic testing for cancer risk, what risk means to them, and ways to manage risk. They might feel that the knowledge gained from testing, regardless of the test result, helps them to feel less uncertain and to make better healthcare decisions armed with more knowledge. They might feel relieved to know that a genetic change was responsible for cancer rather than something about their lifestyle or environment. Others prefer not to know, or decide that the information learned from testing would not be useful to them, perhaps in that it would not change their healthcare management or provide information for other family members.

Genetic testing can also affect family relationships. If a family member has a mutation, a relative who learns that she/he does not have the mutation may feel guilty for being spared. People in whom a mutation is identified may feel a change in self-image, fear of the future, anger, surprise, worry or guilt for possibly passing a mutation on to their children. The inability to identify a mutation in a family could also be upsetting to some people. These are all normal reactions.

Some people seek psychological counseling prior to or after testing to help cope with decisions about testing and the implications of test results.

What about possible discrimination due to having a disease-associated mutation?

There has been concern that people identified as at high risk for cancer could be discriminated against when obtaining or retaining health insurance, disability insurance and life insurance, and when obtaining or retaining employment.

Further, having a cancer-prone genetic makeup could lead to social stigma and social discrimination in terms of choice of schools or careers, adoption, and even dating and marriage relationships.

What are the legal protections?

In the past, laws at the federal and state levels offered some protection against discrimination based on genetic testing or family history information; however those laws did not offer unqualified full protection. Recently, the Genetic Information Nondiscrimination Act (GINA) was signed into law and provides the most comprehensive protection against genetic discrimination of any law thus far.

The Genetic Information Nondiscrimination Act (GINA) of 2008: The Genetic Information Nondiscrimination Act (GINA) is a long-awaited piece of federal legislation prohibiting the use of genetic information in health insurance coverage decisions or employment. This legislation prohibits insurance companies from determining health insurance eligibility or premiums based on genetic test results or family history. In addition, GINA prohibits employers from using genetic information in decisions regarding employment, compensation, conditions, or privileges of employment. For more information see Hudson et al. New England Journal of Medicine 358: 2661-63, 2008.

Other Applicable Law: Federal Law - Health Insurance Portability and Accountability Act (HIPAA): In August 1996, HIPAA was signed into law, expressly stating that people who are covered by a group health insurance policy of 50 or more individuals by their employer may not be denied a similar policy when they change jobs due to genetic information or other pre-existing conditions. This law was a first step in providing federal protection against genetic status discrimination. However, it does not protect self-employed individuals or those working for small employers, so the more comprehensive GINA was later passed.

State Law: California state law prohibits prepaid health care plans, self-funded/self-insured employer/employee welfare benefit plans, non-profit hospital service plans, and life and disability income insurance companies from discrimination based on genetic characteristics to persons unaffected by a genetic-related disorder. Genetic characteristics are defined as a family history of genetic disorders, or gene alterations, causing or increasing the risk of a disease or disorder.

Recommendations for Women at Risk

Recommendations for Women with BRCA1 or BRCA2 mutations (Hereditary Breast Ovarian Cancer Syndrome)

The following are guidelines to help lower your chances of developing breast or ovarian cancer or find cancer at an early stage. Screening recommendations typically begin at age 25 to 30 unless otherwise noted; in some cases an earlier start may be indicated.

Breast cancer screening and risk reduction basics:

Begin breast self-exam monthly at age 18 years
Breast exam every 6 months by a healthcare professional starting at age 25 years
Mammogram every 12 months, starting at age 25 years
Breast MRI every 12 months, especially if there is high mammographic density and/or exceptional complexity to the clinical breast exam

More proactive breast cancer prevention strategies in high-risk women:

Consider Bilateral mastectomy (risk reduction mastectomy expected to reduce risk by more than 90 percent), with reconstruction as desired
Consider Tamoxifen or raloxifene (Evista)– oral medications that may reduce breast cancer risk by about 50 percent
Clinical trials of risk reduction interventions may also be available

Ovarian cancer risk-reduction/screening:

Removal of both ovaries and fallopian tubes between ages 35-40 or after completion of childbearing, because of limitations in the surveillance methods to detect early stage ovarian and fallopian tube cancers.
Women who have not had this surgery are recommended to have transvaginal ultrasound with color Doppler every six months (timed to avoid ovulation in order to reduce the frequency of false-positive results) and a
CA-125 blood test every six months
Taking oral contraceptives – many studies demonstrate significant reduction in ovarian cancer, especially in formulations containing higher progestin levels.

The above recommendations and options should be discussed with a health care provider who has expertise in the management of hereditary cancers so they can be personalized to the individual and her family history. In addition, it is recommended standard screening guidelines for early detection of other cancers be followed. Refer to the American Cancer Society recommendations at www.cancer.org

*Based on the NCCN 2010 guidelines

Ashkenazi Jewish Heritage

Hereditary Breast Cancer

About five percent of all breast cancers and 10 percent of all ovarian cancers are associated with single-gene inherited changes (mutations), primarily in the BRCA1 and BRCA2 genes. Having a BRCA mutation predisposes women to breast and ovarian cancer. Hundreds of different mutations in these genes have been identified.

Specific BRCA gene mutations found in Ashkenazi Jewish individuals

Two specific mutations in the BRCA1 gene and one mutation in the BRCA2 gene occur predominately in persons of Ashkenazi Jewish descent whose ancestors come from eastern or central Europe. It is estimated that 1 in 40 Ashkenazi men and women carry one of these three mutations. About 90 percent of Jewish persons in the U.S. are of Ashkenazi descent.

Cancer risk

As with any woman who has a cancer-associated BRCA gene mutation, Ashkenazi women with one of these mutations have a significantly increased risk for breast and ovarian cancer. Studies indicate that the average lifetime risk associated with these three specific mutations is about 56 percent for breast cancer and 16 percent for ovarian cancer. This risk may be higher or lower dependent upon a woman's personal and family history. Men who have a BRCA mutation also have an increased risk for cancer of about 6 percent for breast cancer and 16 percent for prostate cancer.

Testing for these three mutations

Most Ashkenazi Jewish persons tested for these mutations have a personal or family history of breast or ovarian cancer, or have a blood relative in whom testing has already identified a mutation. Because much is still unknown about cancer genetics, testing is not typically offered to the general population.

Testing is only one of the methods used to estimate cancer risk

Counseling and testing is a multi-step process that begins with assessing cancer risk based on personal factors and family history. This process also includes education and counseling to help understand risk, the usefulness and limitations of genetic testing and other means to assess risk, and individually designed options for early detection and risk reduction strategies. If testing is appropriate and desired, a small blood sample is drawn for analysis. A confidential test result is typically available within two to three weeks. Test results are disclosed in person at a follow-up visit.

Research studies

Ongoing research studies are a vital part of City of Hope's Cancer Screening & Prevention Program's commitment to combating cancer. We will inform you about available studies and eligibility to participate which is entirely voluntary and will not affect your care in any way.

Resources

Hadassah, the Women's Zionist Organization of America
Hadassah is the largest Jewish membership organization in the United States. Hadassah’s educational program, “It's In The Genes,” covers concerns relating to the science of genetics, counseling/psychosocial issues, discrimination, and ethics from a Jewish perspective.
The American Jewish Congress
The Congress’s Commission for Women's Equality supports federal and state legislative campaigns to protect genetic privacy and prohibit genetic discrimination in insurance and employment.
Sharsheret
Sharsheret provides resources and support for young Jewish women, of all backgrounds, facing breast cancer.

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