Breast Cancer Education: Genetic Testing for Those at Higher Risk of Breast Cancer

bc-education-mtp-pinkFamily history and some inherited genetic mutations affect breast cancer risk in both men and women. Having an immediate family member (a parent, sibling or child) with a history of breast cancer increases your own risk of breast cancer.

You should know, however, that genetic mutations linked to breast cancer are rare in the general population. Not all men and women with a family history of breast cancer are likely to have a known genetic mutation. Inherited gene mutations account for only 5 to 10 percent of all breast cancers diagnosed in the U.S.

Mutations are changes in the genetic code of a gene that affect its function. Inherited gene mutations can be passed on from a parent to a child. Some inherited gene mutations increase breast cancer risk.

Genetic testing gives people the chance to learn if they carry a gene mutation that increases their risk of developing breast cancer.

BRCA1 and BRCA2 (BReast CAncer genes 1 and 2) are the most well-known genes linked to breast cancer.

People who have a BRCA1/2 mutation have an increased risk of breast cancer and (for women) ovarian cancer. Although genetic testing for BRCA1/2 is widely advertised, testing is only recommended for certain people, including those with:

  • A known BRCA1/2 gene mutation (or other inherited gene mutation linked to breast cancer) in the family
  • A personal history of breast cancer at age 50 or younger
  • A personal history of breast cancer at any age and a family member (parent, sibling, child, grandparent, grandchild, uncle, aunt, nephew, niece or first cousin) diagnosed with breast cancer at age 50 or younger
  • A personal history of breast cancer and Ashkenazi Jewish heritage
  • A personal history of triple negative breast cancer (breast cancer that is estrogen receptor-negative, progesterone receptor-negative and HER2-negative) diagnosed at age 60 or younger
  • A personal or family history of ovarian cancer
  • A personal or family history of male breast cancer

A family member (parent, sibling, child, grandparent, grandchild, uncle, aunt, nephew or niece) diagnosed with breast cancer at age 45 or younger

There is only a very small chance that your family carries a BRCA1/2 mutation if:

  • You or an immediate family member is the only person in your family with breast cancer
  • The breast cancers in your family all occurred at older ages

In most cases, genetic testing is not recommended when there is a low chance of finding a mutation.

Remember that most breast cancers are not due to a BRCA1/2 mutation. Although BRCA1/2 gene mutation testing is a simple blood test, the risks and benefits should be considered before testing. There are potential physical, emotional and financial impacts of knowing your genetic status. Thus, testing for the BRCA1/2 mutation is recommended only for people who fall into one of the categories listed above.

Genetic counseling and BRCA1/2 testing

Genetic counselors

It is strongly recommended that you speak with a genetic counselor (or other health care professional trained in genetic counseling) before deciding whether to be tested for a BRCA1/2 or other gene mutation. Only people who meet the criteria above should consider testing. A genetic counselor can help you determine whether you meet these criteria. He or she can also discuss the benefits and risks of testing (more on these issues) with you.

For more information on genetic counseling, visit the National Cancer Institute’s website (or call its hotline at 1-800-4-CANCER) or the National Society of Genetic Counselors’ website.

A doctor or genetic counselor can help you decide whether genetic testing is appropriate for you or your family members. For more information on genetic counseling, visit the National Cancer Institute’s website (or call its hotline at 1-800-4-CANCER) or visit the National Society of Genetic Counselors’ website.

For more information on inherited gene mutations, visit: http://ww5.komen.org/BreastCancer/GeneMutationsampGeneticTesting.html

Learn more: http://ww5.komen.org/uploadedFiles/_Komen/Content/About_Breast_Cancer/Tools_and_Resources/Fact_Sheets_and_Breast_Self_Awareness_Cards/Genetics%20and%20Breast%20Cancer.pdf

Hereditary breast cancer: http://ww5.komen.org/uploadedFiles/_Komen/Content/What_We_Do/We_Fund_Research/Your_Research_Dollars_at_Work/2015%20Research%20Fast%20Facts%20-%20Hereditary%20Breast%20Cancer.pdf

Komen Missouri Community Partner: Saint Louis University’s Navigation to Manage and Prevent Hereditary Breast Cancer Program

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The Navigation to Manage and Prevent Hereditary Breast Cancer program at Saint Louis University provides individuals with the opportunity to discover their risk of breast cancer from a hereditary standpoint and take the necessary steps to proactively beat it.

A community grant from Susan G. Komen Missouri provides funding support for this program.

Once a person receives a positive result in genetic testing, their risk of breast cancer can be determined based on the specific mutation as well as the personal and family history of the individual. SLU is now able to test for over 21 genetic mutations that have proved to increase the individual’s risk of breast cancer.

Susan G. Komen Missouri has been incredibly generous over many, many years,” says Dr. Suzanne Mahon, program manager. “The funding is paying so that anybody in the region who needs genetic counseling and education, they get it, no questions asked. They are never billed for my service.”

This counseling and education explains the benefits and potential risks of genetic testing, and whether or not the individual’s family history indicates that genetic testing is the right call.

Suzanne’s role does not stop after testing is done and a genetic mutation is discovered. A navigation piece is in place as part of the program to ensure the patient is well-informed regarding all options.

She describes, “If someone tests positive, based on the gene they test positive for, I get them to all the services that they need to manage that risk…. We have never not been able to get someone to the next step.”

A positive genetic test also suggests that genetic testing should be done on the immediate family of that individual, if age appropriate. Suzanne explains, “If we can figure out if a family has a mutation …then we can help them make good choices about how they want to manage that so they have a little more control over the situation. It’s not like, ‘well I have to just sit around and wait for this bad thing to happen’.”

Suzanne recalled the story of a 36-year old who came in for genetic testing, as her mother had breast cancer twice. The decision was made to hold off on the genetic screening, and she instead had an MRI ordered, which eventually led to a positive biopsy result. The patient decided to do a bilateral mastectomy, and would check in every so often with Suzanne to let her know how she was doing. On one of those phone calls, Suzanne informed her that there was more testing available, so she came in and ended up with a positive result for a gene mutation. This would not even have been on her radar before the test. What’s more, her mother, sisters and brother are all now coming in for genetic testing. Suzanne states, “We don’t just forget these families. We really try to stay connected to them and give them state-of-the art [care] as it is available.”

Suzanne Mahon has been involved with the Navigation to Manage and Prevent Hereditary Breast Cancer program since its origin in 1999. The program has worked with over 2,500 families in that time. “I have the most fantastic job in the world,” she says. “I get to help people change the outcome.”

This is the 11th year of Komen Missouri funding for this program.

Susan G. Komen Missouri’s community grants help fund local breast cancer screening, breast health education and patient navigation and support services for those in our community who otherwise may not have access due to low income, lack of insurance or other barriers.

Breast Cancer Education: Genetic Testing

2015KomenNCR-NBCAMGraphicFaceookCover-GeneralFamily history and some inherited genetic mutations affect breast cancer risk in both men and women. Having an immediate family member (a parent, sibling or child) with a history of breast cancer increases your own risk of breast cancer. You should know, however, that genetic mutations linked to breast cancer are rare in the general population. Not all men and women with a family history of breast cancer are likely to have a genetic mutation. Inherited gene mutations account for only five to 10 percent of all breast cancers diagnosed in the U.S.

Mutations are changes in the genetic code of a gene that affect its function. Inherited gene mutations can be passed on from a parent to a child. Some inherited gene mutations increase breast cancer risk.

Genetic testing gives people the chance to learn if they carry a gene mutation that increases their risk of developing breast cancer.

BRCA1 and BRCA2 (BReast CAncer genes 1 and 2) are the most well-known genes linked to breast cancer.

People who have a BRCA1/2 mutation have an increased risk of breast cancer and (for women) ovarian cancer. Although genetic testing for BRCA1/2 is widely advertised, testing is only recommended for certain people, including those with:

  • A personal history of breast cancer at age 50 or younger
  • A personal history of triple negative breast cancer (breast cancer that is estrogen receptor-negative, progesterone receptor-negative and HER2/neu receptor-negative) diagnosed at age 60 or younger
  • A personal or family history of male breast cancer
  • A personal or family history of bilateral breast cancer (cancer in both breasts)
  • A personal or family history of ovarian cancer
  • A parent, sibling, child, grandparent, grandchild, uncle, aunt, nephew, niece or first cousin diagnosed with breast cancer at age 50 or younger
  • A family member (parent, sibling, child, grandparent, grandchild, aunt, niece or first cousin) diagnosed with ovarian cancer at any age
  • A family history of both breast and ovarian cancers on the same side of the family (either mother’s or father’s side of the family)
  • Ashkenazi Jewish heritage and a personal or family history of breast or ovarian cancer

There is only a very small chance that your family carries a BRCA1/2 mutation if:

  • You or an immediate family member is the only person in your family with breast cancer
  • The breast cancers in your family all occurred at older ages

In most cases, genetic testing is not recommended when there is a low chance of finding a mutation.

Remember that most breast cancers are not due to a BRCA1/2 mutation. Although BRCA1/2 gene mutation testing is a simple blood test, the risks and benefits should be considered before testing. There are potential physical, emotional and financial impacts of knowing your genetic status. Thus, testing for the BRCA1/2 mutation is recommended only for people who fall into one of the categories listed above.

A health care provider or genetic counselor can help you decide whether genetic testing is appropriate for you or your family members. For more information on genetic counseling, visit the National Cancer Institute’s website (or call its hotline at 1-800-4-CANCER) or visit the National Society of Genetic Counselors’ website.

For more information on inherited gene mutations, visit: http://ww5.komen.org/BreastCancer/GeneMutationsampGeneticTesting.html

and

http://ww5.komen.org/uploadedFiles/_Komen/Content/What_We_Do/We_Fund_Research/Your_Research_Dollars_at_Work/2015%20Research%20Fast%20Facts%20-%20Hereditary%20Breast%20Cancer.pdf

We’re celebrating National Breast Cancer Awareness Month for the next six weeks. Connect with and follow Komen St. Louis and use #Komen365 to join in the conversation.

Breast Cancer Education: Genetic Testing

SGK_NBCAM_2014_EducationFamily history and some inherited genetic mutations affect breast cancer risk in both men and women.

Having an immediate family member (a parent, sibling or child) with a history of breast cancer increases your own risk of breast cancer. You should know, however, that genetic mutations linked to breast cancer are rare. Not all men and women with a family history of breast cancer are likely to have a genetic mutation.

Only five to 10 percent of breast cancers in the U.S. are linked to an inherited genetic mutation.

Mutations are changes in the genetic code of a gene that affect its function. Inherited gene mutations can be passed on from a parent to a child. Some inherited gene mutations increase breast cancer risk.

Genetic testing gives people the chance to learn if their family history of breast cancer is likely due to an inherited gene mutation.

BRCA1 and BRCA2 (BReast CAncer genes 1 and 2) are the best-known genes linked to breast cancer.

People who have a BRCA1 or BRCA2 mutation have a greatly increased risk of breast cancer and (for women) ovarian cancer. Although genetic testing for BRCA1 and BRCA2 is widely advertised, testing is only recommended for certain people, including those with:

  • A personal history of breast cancer at age 50 or younger
  • A personal history of triple negative breast cancer (breast cancer that is estrogen receptor-negative, progesterone receptor-negative and HER2/neu receptor-negative)
  • A personal or family history of male breast cancer
  • A personal or family history of bilateral breast cancer (cancer in both breasts)
  • A personal history of ovarian cancer
  • A parent, sibling, child, grandparent, grandchild, uncle, aunt, nephew, niece or first cousin diagnosed with breast cancer at age 45 or younger
  • A mother, sister, daughter, grandmother, granddaughter, aunt, niece or first cousin diagnosed with ovarian cancer
  • A family history of both breast and ovarian cancers on the same side of the family (either mother’s or father’s side of the family)
  • Ashkenazi Jewish heritage and a family history of breast or ovarian cancer

There is only a very small chance that your family carries a BRCA1/2 mutation if:

  • You or an immediate family member is the only person in your family with breast cancer
  • The breast cancers in your family all occurred at older ages

In most cases, genetic testing is not recommended when there is a low chance of finding a mutation.

Remember that most breast cancers are not due to a BRCA1/2 mutation. Although BRCA1/2 testing is a simple blood test, the risks and benefits should be considered before testing. There are potential physical, emotional and financial impacts of knowing your genetic status. Thus, testing for the BRCA1/2 mutation is recommended only for people who fall into one of the categories listed above.

A health care provider or genetic counselor can talk with you about genetic testing issues. For more information on genetic counseling, visit the National Cancer Institute’s website (or call its hotline at 1-800-4-CANCER) or visit the National Society of Genetic Counselors’ website.

For more information on inherited gene mutations, visit: http://ww5.komen.org/BreastCancer/GeneMutationsampGeneticTesting.html

Learn more: http://ww5.komen.org/uploadedFiles/Content_Binaries/806-371a.pdf

We’re celebrating National Breast Cancer Awareness Month for the next six weeks. Connect with and follow Komen St. Louis and use the hashtag #bcjourney to join in the conversation.

A Previvor’s Story: Joanne Kelly

A previvor is a survivor of a predisposition to cancer.

It takes courage to undergo genetic testing and uncover one’s risks for developing breast cancer. And it takes courage to process all of the complexities of cancer and still encourage others to take action. Joanne Kelly, a breast and ovarian cancer previvor, possesses the courage to go through all this and still maintain a positive outlook.

Joanne Kelly

Joanne Kelly

Joanne has lived with the possibility of developing cancer ever since her mother was diagnosed with breast cancer and her aunt was diagnosed with ovarian cancer.
Approximately five to 10 percent of breast cancers in the United States are linked to an inherited genetic mutation. Despite knowing her risk early on, it was not until years later that Joanne decided to proceed with genetic testing.

“When I was 20, I did not want to have the test done; I did not want to know,” says Joanne. “As I matured in my career as an oncology nurse, I wanted to know the risk.”

Following the advice of a coworker, Joanne spoke with Suzanne Mahon, founder of the Hereditary Cancer Program at Saint Louis University Cancer Center and a Komen St. Louis grant recipient. Once the two met for genetic counseling, Mahon coordinated the genetic testing, Joanne’s mother was tested first, and the testing revealed she carried the BRCA1 mutation. Subsequent test results determined Joanne also carried this genetic mutation.

“It is very, very important to have genetic counseling before you have genetic testing done. It’s a big piece of information for the rest of your family, for your children and your children’s children,” says Joanne. “To have someone help you process that information is important. I kind of knew my risk already with my family history. To know for sure was certainly overwhelming. It was also very empowering to know that I could hopefully prevent cancer.”

Devastated yet emboldened by the news of her risk of developing cancer, Joanne decided to take action. She opted for a double mastectomy in 2008 and a hysterectomy/oophorectomy in 2010.

“Having surgery has taken away the cloud over my head,” says Joanne. “It’s been four years since I’ve had the mastectomy. Prior to the surgery, I had the internal struggle of dealing with having cancer down the line.”

Through it all, Joanne credits her husband and children with keeping her going. With their support, she has been empowered to share her experience as she educates and empowers other women.

“What motivates me are the hundreds of women who will come after me,” says Joanne. “I want to be an example that knowledge is power. I can be a voice to encourage women to know their risk, to know that it’s going to be OK.”

Komen St. Louis Community Partner: SLU Cancer Center’s Educating Women About Hereditary Risk for Developing Breast Cancer

CommunityPartnerImage

A woman who discovers she is at risk for developing breast cancer may wonder if someone else in her family is also at risk. That very thought can help save a life.

An estimated 10 percent of women diagnosed with breast cancer have a hereditary predisposition to the disease and are at substantial risk for a second breast cancer; 50 percent of their first-degree relatives also carry a very high risk (92%) for developing early onset breast cancer.

“People need to understand what that risk is,” says Suzanne Mahon, RN, DNSc, AOCN, founder of the Hereditary Cancer Program at Saint Louis University Cancer Center. “Our goal is to provide a good risk assessment, appropriate counseling and coordinated care for the family.”

Through the Educating Women About Hereditary Risk for Developing Breast Cancer program, Mahon provides women who have an inherited predisposition — and their families — with the support and care they need.

The program educates patients about their breast cancer risks through a comprehensive family history review and, when appropriate, genetic testing. This education and counseling addresses the potential risks, benefits and ramifications of genetic testing as well as recommendations for early detection and prevention through strategies such as prophylactic surgery.

“We saw 212 families in the last calendar year,” says Mahon. “If one member of the family tests positive, then I’m going to see the sister or daughter or aunt as well.”

Funding from Komen St. Louis makes the program available to families who may not otherwise have access. This is the 11th year of Komen St. Louis funding for this program.

“We are just thrilled that Komen St. Louis funding has allowed us to have this program,” says Mahon. “It’s good for Komen because they know if we see someone and they need testing, we’re going to get it done.”

In 2012, Komen St. Louis granted nearly $3.1 million to 25 local breast health programs in our 17-county Missouri/Illinois service area, including the Educating Women About Hereditary Risk for Breast Cancer program at Saint Louis University Cancer Center. These grants help fund breast health and breast cancer screening, treatment, education and support services for those in our community who otherwise may not have access due to low income, lack of insurance or other barriers.