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Breast Cancer, Genes and You?

(February 12, 2009) Some teens and young women are at increased risk of breast or ovarian cancer due to a mutation in genes that would otherwise keep cells from malignant or invasive growth. It’s not a large number – only 5-10% of women with breast and ovarian cancers also have these mutations (known as BRCA1 and BRCA2). But if you have the mutation, you have an 85% risk of developing breast cancer – compared to 13% for everyone else. Sadly, girls in this group bear an increased risk of developing breast cancer at a young age, sometimes in their twenties. And teen daughters of a BRCA carrier have a 50% chance of inheriting the gene mutation and of developing breast and/or ovarian cancer.

After 20 years of progress in the fields of genetics and cancer, we know a lot more. But as doctors, parents and patients, we also have a lot more responsibilities and questions. A few cases (composites, but loosely based on real patients) illustrate some of the heady and complex issues raised by this new body of knowledge.

Breast Cancer: Yes or No on Oral Contraceptives?

Stephanie, 17, asks to speak to me about going on birth control pills – and not to tell her mother, who had breast cancer six years ago and is afraid of oral contraception. What does Stephanie need to know? Is it ok to prescribe without her mother’s permission?

Because New York State law protects teens who want confidential medical care related to contraception, I am obligated to respect Stephanie’s request for privacy. In practice, however, I always try to balance this with a need to get all the information to safely deliver medical care. What if Stephanie’s mother has information relevant to a decision on oral contraceptives?

I explained to Stephanie that experts generally believe today’s lower dose birth control pills do not put women at higher risk of breast cancer in the future. Since Stephanie was comfortable with her mother knowing she was sexually active, I suggested a three-way conversation with her mom to explain recent research on breast cancer. Had Stephanie insisted I not talk with her mom, I would have promised to both maintain confidentiality and be available for future conversations with her mother, should she change her mind.

Are OCs (Oral Contraceptives) OK with BRCA?

Marsha, 16, is so disabled by menstrual cramps she misses three days of school each month. All methods of managing her cramps have been unsuccessful, and the next best option is oral contraceptive pills. Her aunt has breast cancer and tested positive for the BRCA gene mutation. Marsha and her mother want to know if it is safe for Marsha to take pills.

Marsha’s case raised the question of whether BRCA mutation carriers have an increased risk of developing cancer with oral contraceptive use. To date there is no evidence that there is any increased risk of breast cancer with the newer generation of low (estrogen) dose pills. In fact, there is strong evidence to suggest that OCs actually reduce the risk of ovarian cancer in mutation carriers. Marsha was relieved to learn that OCs could help and her aunt’s illness would not be a factor.

Another question was when and whether an adolescent like Marsha should be tested if there is a family history of breast cancer and the gene mutation. Since this information would not have added to her life or medical management, there were no compelling reasons to test her.

When to Test a Teen?

Mrs. T, mother of 15-year-old Jane, recently learned her sister-in-law has the gene mutation and would like Jane tested. The mother is angry; she blames her ex-husband for faulty DNA. Is testing Jane a good idea – ethically or medically?

This decision is a delicate one. Ethicists, oncologists, geneticists, and adolescent medicine experts agree the decision should be based on protecting the child and first “doing no harm.” Many argue that some teens are capable of deciding for themselves and, if they are not, testing should be delayed until they are.

Mrs. T’s motives were unclear. Experts would generally agree, unless results would help with Jane’s psychological or medical management, there is no urgent need to test. Since, at this point, there is no proven prevention or management strategy for teens with BRCA, there is no reason to test Jane.

Because Mrs. T insisted on the test, I urged her to have Jane tested only under the supervision and advice of an experienced genetic counselor who would be up to date on the implications of the findings.

I Have A Gene Mutation, Now What?

Bonnie, 20, has been tested and is positive for the gene mutation. She asks what to do now about mammograms and birth control pills? Should she have a prophylactic mastectomy? Or have her ovaries removed and plan to adopt?

Of course, these are intensely personal decisions. But there are enough research results to offer scientifically-based advice around these questions.

A young woman – or one of any age – with a BRCA mutation has three strategies for preventing breast and ovarian cancer:

  • Preventative (prophylactic) surgery
  • Prevention with medication
  • Increased screening and surveillance

Surgery: Studies show pretty convincingly that prophylactic mastectomy reduces the incidence of breast cancer. (Since, inevitably, some breast tissue remains and may turn malignant, the reduction is not 100%.) Oophorectomy (removal of the ovaries) significantly reduces the risk of both ovarian cancer and breast cancer. Current recommendations are that all BRCA mutation carriers undergo bilateral oophorectomy by age 35-40, or as soon as they have finished childbearing.

Medication: Some argue that oral contraceptives will decrease the risk of ovarian cancer without raising the risk of breast cancer.

Screening: The National Comprehensive Cancer Network currently recommends:

  • Regular monthly breast self exam starting at age 18
  • Clinical breast exam, semiannually, starting at age 25
  • Annual mammogram and/or MRI starting at age 25 (or based on earliest age of onset in family)

These recommendations will undoubtedly change as new technologies and studies emerge. What works in a mature woman’s body may not be the right decision for a teenager.

I’m Ready for Motherhood – What About BRCA Testing?

Sarah, 25, is ready to start a family soon. Her mother died of breast cancer at age 40. Sarah asks if she should be tested now. What are the implications for childbearing?

I told Sarah that most experts would advise her to be tested now. Because Sarah’s mom was diagnosed young, she was a likely carrier, and so is Sarah. If she learns she is positive for BRCA, she’d know to get more frequent mammograms and to consider taking oral contraceptives to protect her ovaries until she’s ready to get pregnant.

Should she consider prophylactic mastectomy and oophorectomy? A complex, wrenching personal choice, to be sure. It is not clear whether pregnancy at her relatively young age increases or decreases her chances of cancer. The answer may depend on her BRCA status, so there is a good reason to be tested.

I’m BRCA Positive – Can I Have Children?

I recommended that Sarah be tested under the supervision of a genetic counselor familiar with the most recent research and capable of helping her with the panoply of decisions that might lay before her.

The tests showed she is a BRCA carrier. Now she is wondering if she should have children at all.

For women like Sarah and their partners there are options. Preimplantation genetic diagnosis” (PGD) is a medical procedure that allows people who carry a disease-causing hereditary mutation to have children who are free from the specific mutation that causes the disease.

The PGD procedure includes in-vitro fertilization – a woman’s eggs are removed and fertilized in a test tube. When the embryos reach a certain size, one cell is removed to test for the hereditary disease in question. Once the genetic status is determined, the parents decide which embryos they want implanted.

In sum, anyone faced with the diagnosis of hereditary cancer is not alone. More and more resources are emerging to help at every stage of life, including adolescence and young adulthood.

Want to read more? Here are other resources:

American Cancer Society:

Facing Our Risk of Cancer Empowered (FORCE),, dedicated to increasing knowledge and support for people with hereditary cancers.

Gilda’s Club,, helps all ages with all types of cancer

In the Pink:, a Westchester organization, addresses issues facing young women with breast cancer

Yale Cancer Genetic Counseling Program:, provides genetic counseling and testing.

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