Genetic Testing: Families With Breast Cancer

  • Medical Author:
    Melissa Conrad Stöppler, MD

    Melissa Conrad Stöppler, MD, is a U.S. board-certified Anatomic Pathologist with subspecialty training in the fields of Experimental and Molecular Pathology. Dr. Stöppler's educational background includes a BA with Highest Distinction from the University of Virginia and an MD from the University of North Carolina. She completed residency training in Anatomic Pathology at Georgetown University followed by subspecialty fellowship training in molecular diagnostics and experimental pathology.

  • Medical Editor: William C. Shiel Jr., MD, FACP, FACR
    William C. Shiel Jr., MD, FACP, FACR

    William C. Shiel Jr., MD, FACP, FACR

    Dr. Shiel received a Bachelor of Science degree with honors from the University of Notre Dame. There he was involved in research in radiation biology and received the Huisking Scholarship. After graduating from St. Louis University School of Medicine, he completed his Internal Medicine residency and Rheumatology fellowship at the University of California, Irvine. He is board-certified in Internal Medicine and Rheumatology.

Who should get genetic for breast cancer genes?

Ms. G. is a 40-year-old woman with two small children. Like most women, she is concerned about her chances of developing breast cancer. She asks her doctor about her risks. Although breast cancer is a worry for most women, Ms. G. is especially worried because of a family history of breast cancer. Her mother and sister had breast cancers that were diagnosed at young ages.

A woman with a family history of breast cancer has a lot of concerns. Among other things, she is thinking of her job, children, and husband, as well as how her medical insurance and health team will be able to serve her needs in the future should she be diagnosed with breast cancer.

What are the facts about families that have multiple members with breast cancer?

Overall, inherited breast cancer disorders account for a small minority of breast cancers. Genes are the "messages" in each cell of the body that determine the ultimate design of our bodies. Genes can be damaged by the environment. Additionally, people can be born with defects in the genes that remove the body's defenses against cancers. Only in about 10% of all breast cancer cases is there actually an inherited genetic defect that can be detected by testing. In fact, most cases of breast cancer occur in women who do not have a family history of breast cancer. A complex interplay between environmental and genetic factors affects the development of breast cancer, and all the key factors have not yet been identified.

How do you decide whether she should get genetic testing?

The whole issue of genetic testing for breast cancer is complicated. Recent research indicates that the information women seek most often when they request genetic testing does not match what they can realistically determine from this testing. Nevertheless, it is worthwhile to consider the role of this testing and what it involves.

Certain characteristics make a woman at higher risk for genetic breast cancer disorders. These factors include:

  1. family members with breast cancer, especially at a young age;
  2. breast cancer in a male family member;
  3. both breast and ovarian cancer in the family;
  4. bilateral breast cancer in a single family member;
  5. breast cancer diagnosed at very young ages; and
  6. being of Ashkenazi Jewish descent.

Ms. G. and her doctor determine that she falls within the group with higher risk factors because her sister and mother both had breast cancer at young ages.

Medically Reviewed by a Doctor on 3/22/2017

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