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Study: Do BRCA mutations affect fertility?

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This study is about:

Whether having a mutation affects ovarian reserve, which in general describes the capacity of ovaries to provide eggs that will ultimately result in a successful pregnancy.

Why is this study important?

"Ovarian reserve"—the amount of healthy eggs a woman has—is affected by her age. The older a woman gets the fewer healthy eggs she has to release from her ovariy each month. Because of this, age is often a factor in fertility and family planning. If faving a mutation also affects fertility, this would be more important information for women to take into account for family planning.

Study findings: 

  1. mutation carriers had lower ovarian reserve, as measured by the concentration of the hormone AMH, than women who did not have mutations.
  2. There was no difference in ovarian reserve between women with mutations and women without mutations in .   

What does this mean for me?

While the association between mutation carriers and lower ovarian reserve adds to previous data, more research will need to be done to prove this link. The actual difference in ovarian reserve found in this study was relatively small. Women with mutations may want to consult with both genetics experts and fertility experts to coordinate their family planning and their plans for cancer screening and preventive surgeries.  mutation carriers who have been diagnosed with cancer should request a referral to a fertility expert if they are concerned about the affects of treatment on their ability to conceive.

Posted 5/23/16

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Human Embryology. Retrieved from: “Gametogenesis.” 

Phillips K, Collins IM, Milne RL, et al. “Anti-Mullerian hormone serum concentrations of women with germline or mutations.” Human Reproduction. Published online first on April 19, 2016.

The Society of Obstetricians and Gynecologists of Canada. Retrieved from: “Age and Fertility.” 

Whitman-Elia, GF. Retrieved from: “Low Ovarian Reserve- What does it really mean?” 

This article is relevant for:

Women with a BRCA mutation who want to become pregnant

This article is also relevant for:


people with a genetic mutation linked to cancer risk

people with breast cancer

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Study background:

A woman is born with all of the eggs she will have throughout her life. Each month during her menstrual cycle, she releases one egg and in general, the healthier eggs are released when she is younger and the less healthy eggs are released later on. This is often referred to as lower ovarian reserve.  Healthier eggs have a higher chance of resulting in a pregnancy, making it more difficult for women to get pregnant at older ages.

Some studies have suggested that genes are involved in reproductive aging, while others have not. Kelly-Anne Phillips and colleagues at the Peter MacCallum Cancer Centre in Australia and colleagues published findings in the journal Human Reproduction where they looked at how status affected ovarian reserve (as measured by concentration of the hormone called AMH (Anti-Müllerian hormone) in the blood.

Researchers of this study wanted to know:

  1. Does having a or mutation result in women having a lower ovarian reserve?

Population(s) looked at in the study:

The researchers used blood samples from 172 mutation carriers and 216 women from families with mutations who did not carry the mutation in their family, as well as 147 mutation carriers and 158 women from families with mutations who did not carry the mutation in their family. These women were between the ages of 25-45, had two intact ovaries and had no personal history of any cancer (except for non-melanoma skin cancer). Researchers measured AMH (Anti-Müllerian hormone) concentrations in the blood, which is a measurement of ovarian reserve as AMH is a hormone produced by eggs and represents a woman’s overall egg pool. AMH is a good measurement of ovarian reserve and is one of the most important tests that fertility specialists use when counseling patients.  

Study findings: 

  1. On average, mutation carriers had lower ovarian reserve as measured by AMH concentrations than women who did not carry mutations.
    • The difference is comparable to a two-year increase, meaning a 35-year old woman who is a carrier and a 37-year old woman who is a non-carrier had similar ovarian reserves.
  2. There was no difference between the average ovarian reserve as measured by AMH concentrations between women with mutations and women without mutations.


The sample size used in this research study was relatively small. While the researchers saw that there was no difference in AMH concentrations between carriers and non-carriers, this may be because there were not enough patients in the study for the researchers to see a difference.  


While this study suggests an association between mutation status and a lower ovarian reserve, more work needs to be done to confirm this finding, in addition to the finding, as it was a relatively small study. Additionally, because the difference in AMH concentrations between mutation carriers and non-carriers was not large, the authors write “…it is possible that the findings of our study might not translate to clinically relevant fertility implications for younger women, but may be important for the subgroup of mutation carriers who wish to conceive in their late 30s or 40s when fertility is reduced even in the general population.” Young mutation carriers do not need to rush to have children based on these findings alone. However, women in their late 30s and 40s do already have a reduced ovarian reserve due to age—may want to talk to a fertility expert, particularly if they are having trouble conceiving. These experts may suggest trying to conceive at an earlier age or freezing their eggs.

Posted 5/23/16

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

Expert Guidelines
Expert Guidelines

The National Comprehensive Cancer Network (NCCN) provides guidelines for fertility in people diagnosed with cancer. 

The NCCN recommends doctors discuss the following with adolescents and adults with cancer before treatment begins:

  • fertility plans and preferences
  • fertility preservation options, including:
    • whether therapy can be delayed long enough for a cycle of egg stimulation
    • cryopreservation
    • medications like GnRH agonist therapy during to preserve ovarian function in premenopausal women with breast cancer
  • the importance of follow-up with a gynecologist or fertility specialist to monitor ovarian function over time
  • the risks of infertility due to cancer and related treatment
  • the effects of treatment on breastfeeding
  • the importance of avoiding pregnancy and options for safe and effective birth control while in treatment
  • safe timing for considering pregnancy after treatment 
  • the emotional impact of discussions about fertility preservation
  • financial resources for fertility preservation
  • the effects of treatment on sexual function during and after treatment

Doctors should refer patients as indicated for the following services:

  • All patients who are interested in preserving their fertility should be referred to a fertility preservation clinic before starting treatment.
  • Patients who need assistance with complex medical decision-making should be referred to a mental health professional.
  • Patients who are experiencing sexual dysfunction should be referred to a sexual health specialist. 

Updated: 02/06/2022

Questions To Ask Your Doctor
Questions To Ask Your Doctor

  • I am a mutation carrier. What factors should I take into account when deciding when I should have children?
  • I am having trouble conceiving. Are their options available to help?
  • How do fertility treatments affect my cancer risk?
  • How might cancer treatment affect my fertility?

Open Clinical Trials
Open Clinical Trials

The following research studies related to fertility preservation are enrolling patients.

Fertility preservation studies for women

Fertility preservation for men

  • NCT02972801: Testicular Tissue Cryopreservation for Fertility Preservation. Testicular tissue cryopreservation is an experimental procedure involving testicular tissue that is retrieved and frozen. This technique is reserved for young male patients, with the ultimate goal that their tissue may be used in the future to restore fertility when experimental techniques emerge from the research pipeline.

Updated: 09/29/2023

Peer Support
Peer Support

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

Updated: 08/06/2022

Find Experts
Find Experts

The following resources can help you locate an expert near you or via telehealth. 

Finding fertility experts

  • The Oncofertility Consortium maintains a national database of healthcare providers with expertise in fertility preservation and treatment of people who are diagnosed with cancer or at high risk for cancer due to an .  
  • Livestrong has a listing of 450 sites that offer fertility preservation options for people diagnosed with cancer. Financial assistance may be available to make the cost of fertility preservation affordable for more patients.

Other ways to find experts

Updated: 04/07/2023

Who covered this study?

Medical News Today

BRCA1 gene mutation linked to fewer eggs in ovaries This article rates 4.5 out of 5 stars

Endocrinology Advisor

BRCA1 mutation may affect fertility in women This article rates 3.5 out of 5 stars

How we rated the media

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