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Personal Story: A young woman's story of genetic testing and risk-reducing mastectomy

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At a glance Questions for your doctor
What do experts say?     Resources                          

 

ARTICLE AT A GLANCE

This article is about:

a well-written story about Alejandra Campoverdi, a young women and advocate with a  mutation.

A family history of breast cancer led to genetic testing

Alejandra Campoverdi comes from a family with many cases of breast cancer. While her mother and two aunts are survivors, both her grandmother and great-grandmother died of breast cancer.

Given her extensive family history, Alejandra chose to have genetic testing for mutations in genes that increase breast cancer risk.

She wasn’t surprised when she was told that she had a  mutation:     

"I remember when the nurse came in to tell me that I’d tested positive. The first thing out of my mouth was, ‘I know,’ because I did. My intuition, coupled with my family history, all but assured me this would be the case."

Women who test positive for a or other inherited mutation have a very high risk for breast, ovarian, and other cancers. There are medical options for managing these risks. 

What do the experts say?

Genetic testing
Experts recommend speaking with a health care provider with advanced training in genetics to determine if genetic testing is right for you. These experts can help make the decision about genetic testing easier. The FORCE website has resources for finding a genetics expert

Breast cancer risk
According to experts, for women with a gene mutation like Ms. Campoverdi, the lifetime risk for breast cancer is up to 70% compared to 13% in women without an inherited mutation. Because of this high risk, women with a gene mutation in or other genes associated with breast cancer risk have screening and risk-reducing options for managing this risk.

The National Comprehensive Cancer Network (NCCN) is a network of cancer centers that set national guidelines for cancer care. NCCN has guidelines for genetic testing and cancer risk management for breast cancer due to an inherited mutation. These guidelines cover:

  • enhanced breast screening
  • medications to lower cancer risk
  • risk-reducing mastectomy 

Other cancer risks
People who test positive for a gene mutation may have increased risk for other cancers.

Women with a mutation like Ms. Campoverdi have an increased risk of ovarian cancer. NCCN has guidelines for ovarian cancer risk management. Ms. Campoverdi chose to have ovarian cancer screening using a blood test known as CA 125. The use and accuracy of this test for detection of ovarian cancer is  controversial. 

People who test positive for a gene mutation may have increased risk for additional cancers, including pancreatic, , and others.  

The decisions about surveillance and risk-reducing surgery are complex

Initially, Ms. Campoverdi opted for increased surveillance: regular self- breast exams and yearly monitoring by healthcare providers with , breast  and .

Alejandra Campoverdi reported that:

"I felt like I was being proactive enough, but it was exhausting to constantly go to the doctor, not to mention anxiety-producing."

After several years of increased surveillance and discussions with her doctor, Alejandra decided to have a risk-reducing  mastectomy:

         "As my 39th birthday approached, it was time."

A surprise: preventive surgery uncovered early non-invasive breast cancer

"When I was wheeled into surgery in October 2018, I felt confident and empowered. I woke up feeling groggy but relieved that it was all behind me. I had no idea that the most shocking part was yet to come. Six days after my surgery, while I was still bandaged up and had drains coming out of my sides, I received an unexpected call from my doctor. She said the last thing I expected to hear: I had breast cancer."

Ms. Campoverdi was diagnosed with ductal carcinoma in situ (). is sometimes called " 0", non-invasive breast cancer. is a cluster of abnormal cells that have not spread beyond their origin in the lining of the breast ducts.

For Alejandra Campoverdi, her risk-reducing mastectomy led to early detection of a small, low-grade . Her treatment was straightforward:

"I would not need to do any more treatment—no chemo, no radiation, no hormonal treatment necessary. I never thought I’d have my decision validated like that. Turns out, I beat cancer before I knew I had it."

A voice for other previvors and women of color

There are documented disparities in breast cancer risk, prognosis and access to care for Latina women and other women of color.  

As a result of her personal history and experiences, Ms. Campoverdi founded the Well Woman Coalition as a voice for Latina women who have or are at risk for breast cancer. Ms. Campoverdi notes:

"I had good health care, my choice of doctors, and access to lots of information about my options. Yet this is not the case for many, including the women in my family. That's why I founded The Well Woman Coalition. Well Woman is an initiative to empower women of color to have agency over their own health and healing. The three principles of Well Woman are to arm yourself with information, make empowered choices, and to save your own life."

In partnership with Basser Center for at the University of Pennsylvania, The Well Woman Coalition has organized the “LATINX & ” campaign that focuses on information and Spanish-language materials for Latinas.

Lastly, Ms. Campoverdi points out:

"Treatment versus surveillance approaches are very personal, and each woman should decide what’s best for her. But if you have reason to believe that you may be at a higher risk of developing breast cancer or have several family members who have battled the disease, consider taking a test."

What does this mean for me?

  • If you have had breast cancer, have a family history of breast or other cancers, you may want talk to a genetic counselor or other health provider with experience in genetics. You may qualify for genetic testing.
  • If you test positive for a mutation in a gene associated with breast cancer, you should speak with your health care provider about risk-management options.

Share your thoughts on this XRAYS article by taking our brief survey.

Posted 6/6/19
 

Reference

Alejandra Campoverdi and Barbara Brody. "I Had a Preventive Mastectomy—Then Found Out I Already Had Breast Cancer." Health, May 18, 2019.
 

Disclosure

FORCE receives funding from industry sponsors, including companies that manufacture cancer drugs, tests and devices. All XRAYS articles are written independently of any sponsor and are reviewed by members of our Scientific Advisory Board prior to publication to assure scientific integrity.

This article is relevant for:

Young women of color with a BRCA mutation

This article is also relevant for:

Previvors

ER/PR +

Women under 45

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Expert Guidelines Expert Guidelines

NCCN guidelines recommend genetic counseling and testing for people without cancer who have the following family history:

  • A relative who has tested positive for an inherited mutation in a gene that increases cancer risk.
  • One or more first- or second-degree relatives with breast cancer and any of the following:
    • diagnosed at age 45 or younger
    • two separate breast cancers, with the first diagnosis at age 50 or younger
    • male breast cancer
  • One or more first- or second-degree relatives with:
    • colorectal cancer before age 50
    • endometrial cancer before age 50
    • ovarian, , primary peritoneal cancer
    • rare or childhood cancers
  • One or more first-degree relatives with:
    • or high-grade cancer
    • pancreatic cancer
  • Two or more relatives on the same side of the family diagnosed with any combination of the following at any age:
    • breast cancer
    • pancreatic cancer
    • cancer
    • melanoma
    • sarcoma
    • adrenal cancer
    • brain tumors
    • leukemia
    • endometrial cancer
    • thyroid cancer
    • kidney cancer
    • diffuse gastric cancer
    • colon cancer

Updated: 12/04/2021

Expert Guidelines Expert Guidelines

The National Comprehensive Cancer Network (NCCN) provides breast cancer risk management guidelines for people with and mutations. We recommend that you speak with a genetics expert who can look at your personal and family history of cancer and can help you to determine the best risk management plan. 

Screening for women:

  • Learn to be aware of changes in breasts beginning at age 18.
  • Clinical breast exam every 6-12 months beginning at age 25.
  • Annual breast  with contrast (or  if  is unavailable) beginning at age 25 and continuing until age 75.
  • Annual  at age 30 until age 75 (consider 3D  if available).
  • Screening after age 75 should be considered on an individual basis.

Risk reduction for women:

  • Women should have a discussion with their doctors about of the advantages and disadvantages of risk-reducing mastectomy.
    • Research has shown that risk-reducing mastectomy can lower the risk for breast cancer in high risk women by about 90%. Despite this, mastectomy has not been shown to help high risk women live longer.
    • Even after mastectomies, some breast tissue-and therefore some breast cancer risk remains. 
  • Women should have a conversation with their doctor about the possible benefits of tamoxifen or other estrogen-blocking drugs to reduce breast cancer risk in women with  mutations. Research on the benefit of these drugs to reduce breast cancer risk in women with  mutations has been mixed.

Risk management in men:

  • Breast self-exam training and education beginning at age 35.
  • Clinical breast exam every 12 months beginning at age 35.
  • In men with enlarged breasts, (gynecomastia) consider annual  in men with gynecomastia beginning at age 50 or 10 years younger then the earliest case of male breast cancer in the family (whichever comes first). 

Updated: 12/14/2021

Expert Guidelines Expert Guidelines

The National Comprehensive Cancer Network (NCCN) provides guidelines for management of gynecologic cancer risk in people with and mutations. 

Prevention 

  • Risk-reducing removal of ovaries and , (known as salpingo-oophorectomy) is recommended between ages 35-40 for and 40-45 for and upon completion of childbearing.
    • Research studies show that removing the ovaries can increase survival for women with  mutations. 
    • Women should talk with their doctors about the effects of early menopause and options for managing them.
  • Women should talk with their doctors about the risks and benefits of keeping or removing their uterus (hysterectomy), including:
    • Women with a  mutation have an increased risk for a rare form of aggressive uterine cancer; hysterectomy removes this risk. 
    • For women considering hormone replacement after surgery, the presence or absence of a uterus can affect the choice of hormones used.
      • Estrogen-only hormone replacement is less likely to increase the risk for breast cancer, although it increases the risk for uterine cancer. Women who still have their uterus are typically given hormone replacement with both estrogen and progesterone.
      • Adding progesterone to estrogen hormone replacement can protect against uterine cancer. However, the combination of these hormones may increase the risk for breast cancer more than estrogen alone. 
    • A medical history of fibroids or other uterine or cervical issues may justify a hysterectomy. 
  • Oral contraceptives (birth control pills) have been shown to lower the risk for ovarian cancer in women with  mutations. Research on the effect of oral contraceptives on breast cancer risk has been mixed. Women should discuss the benefits and risks of oral contraceptives for lowering ovarian cancer risk with their doctors. 
  • Removal of the  only () is being studied as an option for lowering risk in high-risk women who are not ready to remove their ovaries. Studies on the effects of are ongoing. At this time whether  lowers the risk for ovarian cancer in high-risk women remains unknown. 
    • Consider enrolling in a research study looking at this procedure to lower cancer risk.

Screening

  • There are no proven benefits to routine ovarian cancer screening using transvaginal  and a  blood test. However, some doctors still recommend this screening, starting at ages 30-35.
  • Women should be aware of the symptoms of gynecologic cancer and report abnormalities to their doctors. 

Updated: 08/06/2022

Peer Support Peer Support

FORCE offers many peer support programs for people with inherited mutations. 

Updated: 08/06/2022

Find Experts Find Experts

Health care providers who are specially trained in genetics can help you more clearly understand your risk for . The following resources can help you locate a genetics expert in your area.

  • The National Society of Genetic Counselor website offers a searchable directory for finding a genetic counselor by state and specialty. To find a genetic counselor who specializes in cancer genetics, choose "cancer" under the options "Area of Practice/Specialization." 
  • InformedDNA is a network of board-certified genetic counselors providing this service by telephone. They can also help you find a qualified expert in your area for face-to-face genetic counseling if that is your preference. 
  • JScreen is a national program based out of Emory University that provides low-cost at-home genetic counseling and testing with financial assistance available.
  • Grey Genetics provides access to genetic counselors who offer genetic counseling by telephone. 
  • The Genetic Support Foundation offers genetic counseling with board-certified genetic counselors. 
  • FORCE's toll-free helpline at: 866-288-RISK, ext. 704 will connect you with a volunteer board-certified genetic counselor who can answer general questions about genetic testing and cancer and help you find a genetics expert near you. 
  • FORCE Peer Navigator Program will match you with a volunteer who has undergone genetic counseling and can help you navigate resources to find a genetic counselor near you.
  • Ask your doctor for a referral to a genetics expert. 

Updated: 03/16/2022

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