Case Review Series - Active Use of Family History - MyriadMyRisk

What better time to talk about cancer family history than when when families gather for the holidays with the rare opportunity of seeing everyone from near and far in one place?  As a clinician, you may already collect your patients’ family histories on a routine basis, which is a great first step.

In fact, the American College of Obstetricians and Gynecologists recognizes the importance of using family history as a risk assessment tool for hereditary cancers and states in a recently reaffirmed Committee Opinion the following recommendations: 1

  • All women should have a family history evaluation as a screening tool for inherited risk
  • Family history information should be reviewed and updated regularly, especially when there are significant changes to family history
  • Where appropriate, further evaluation should be considered for positive responses…

The challenge with many providers, is knowing what to do with this information once collected.

Below is a series of case scenarios for one particular patient seeking medical attention for various health concerns throughout her lifetime to help address this very question of how to use cancer family history information.

casereviewseries-female-18

AGE 18

Reason for Visit:

Contraception Consult

Why does her family history matter?

Though this patient seems to have a very simple family history, the fact that her grandmother was diagnosed with breast cancer at the young age of 45 means that she meets the National Comprehensive Cancer Network’s guidelines to be further evaluated for hereditary cancer risk.  Knowing her hereditary cancer status will help you determine whether she faces an increased risk for developing certain cancers.

For example, if she carries a BRCA mutation, her risk of developing ovarian cancer can be as high as 63%2-4 over her lifetime.  You would be able to prescribe oral contraceptives, as a birth control measure, and also help reduce her ovarian cancer risk by up to 60%6. On the other hand, if you tested her and ruled out a hereditary cause to the breast cancer, she would have a wider range of birth control options from which to choose.

casereviewseries-female-23

AGE 23

Reason for Visit:

Pelvic Pain

Why does her family history matter?

This patient returns to see you for pelvic pain at age 23.  Had you already evaluated her for hereditary cancer testing at age 18, you may consider additional evaluation with the added knowledge of her BRCA status and her over 60%2-4 lifetime risk of developing ovarian cancer.

casereviewseries-female-28

AGE 28

Reason for Visit:

Painless Breast Mass at 36 Weeks Gestation

Why does her family history matter?

She is now 36 weeks pregnant with her first child and has a breast mass.  If she has a BRCA mutation, her risk for developing breast cancer can be as high as 87%3-5 over her lifetime, and she would have already started annual breast imaging as early as age 25.  Instead of dismissing the breast mass as a common occurrence during pregnancy or delaying screening until after pregnancy is over, you would consider additional evaluation and or referral.

AGE 32

Reason for Visit:

Ovarian Cyst

Why does her family history matter?

She now returns to see you for a persistent, painful ovarian cyst after having had two children.  Instead of conservative observation, knowing she’s at high risk for both ovarian and breast cancer due to her BRCA mutation, you and your patient may elect a more aggressive approach, including possible oophorectomy and salpingectomy.

A risk-reducing salpingo oophorectomy has been shown to decrease the risk of ovarian cancer up to 96% in addition to decreasing her breast cancer risk up to 68%.8,9

  • Ovarian Cancer
  • Breast Cancer

AGE 38

Reason for Visit:

Permanent Contraception Consult

Why does her family history matter?

She comes back at age 38 for permanent contraception after completion of child-bearing.  If she is positive for a BRCA mutation, you can recommend a risk-reducing salpingo-oophorectomy (RRSO) to help reduce both her ovarian cancer risk (up to 96%) and breast cancer risk (up to 63%); 8,9 if negative, she has more options, such as having her partner undergo a vasectomy or she can consider a tubal occlusion or ligation instead.

Risk-Reducing Salpingo-Oophorectomy (RRSO)

  • Ovarian Cancer
  • Breast Cancer
casereviewseries-female-47

AGE 47

Reason for Visit:

Urinary Incontinence

Why does her family history matter?

This patient now sees you with complaints of urinary incontinence.  If you were aware she is BRCA positive, you might consider the possibility of an ovarian mass with extrinsic compression on her bladder in your differential diagnosis.

These examples offer a different perspective on why family history can be equally important to consider when patients are seeking medical attention for problem issues as well as routine wellness exams.

Increase in the number of patients considered to be at high risk for Hereditary Breast Ovarian Cancer over a 7-year period7

It is simply not enough to review your patients’ cancer family histories annually. As clinicians, you must ask them diligently and at every visit as family histories frequently change, so that you have the clinical information necessary to treat them appropriately.  As your patients’ trusted healthcare provider, you are in a unique position to care for your patients through many stages of their lives.  Each visit can be an opportunity to impact patient care and help your patients avoid a preventable cancer.



References:

1. American College of Obstetricians and Gynecologists Committee Opinion1 No. 478: Family History as a Risk Assessment Tool. Obstet Gynecol 2011; 117(3): 747-50, reaffirmed 2015.
2. Easton DF, et al. Breast and ovarian cancer incidence in BRCA1-mutation carriers. Breast Cancer Linkage Consortium. Am J Hum Genet. 1995 56:265-71
3. Chen S, et al. Characterization of BRCA1 and BRCA2 mutations in a large United States sample. J Clin Oncol. 2006 24:863-71.
4. Mavaddat N, et al. Cancer risks for BRCA1 and BRCA2 mutation carriers: results from prospective analysis of EMBRACE. J Natl Cancer Inst. 2013 105:812-22.
5. Ford D, et al. Risks of cancer in BRCA1-mutation carriers. Breast Cancer Linkage Consortium. Lancet. 1994 343:692-5.
6. Narod SA, et al. Oral contraceptives and the risk of hereditary ovarian cancer.N Engl J Med. 1998;339:424-428
7. Madlensky L, et al. The importance of updating the family history of breast cancer survivors. Abstract presented at the 2009 San Antonio Breast Cancer Symposium
8. Rebbeck TR, et al. Prophylactic oophorectomy in carriers of BRCA1 or BRCA2 mutations. N Engl J Med. 2002;346(21):1616-1622.
9. Kauff ND, et al. Risk-reducing salpingo-oophorectomy in women with a BRCA1 or BRCA2 mutation. NEJM. 2002;346:1609-1615.

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