BRIP1 Gene Mutations

BRIP1 ASSOCIATED CANCER RISKS

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Additional Information

BRIP1 gene

Associated Syndrome Name: BRIP1-associated Cancer Risk (Women only)

BRIP1 Summary Cancer Risk Table

Cancer Genetic Cancer Risk
OvarianHigh Risk

BRIP1 gene Overview

BRIP1-associated Cancer Risk (Women only) 1, 2, 3, 4
  • Women with BRIP1 mutations are believed to have a significantly increased risk for ovarian cancer.
  • Some studies have found that women with BRIP1 mutations have an increased risk for breast cancer. However, there are other studies showing no increase in risk. The data are not conclusive at this time and there are currently no medical management recommendations that address this possible risk.
  • At this time, there are no known cancer risks for men due to mutations in BRIP1.
  • Although there are high cancer risks for patients with mutations in BRIP1, there are interventions that may be effective at reducing these risks. Guidelines from the National Comprehensive Cancer Network (NCCN) that may apply are listed below. Since information about the cancer risks associated with BRIP1 mutations is relatively new, and there is still some uncertainty about the best ways to reduce these risks, it may be appropriate to interpret these results in consultation with cancer genetics experts in this emerging area of knowledge.

BRIP1 gene Cancer Risk Table

Cancer Type Age Range Cancer Risk Risk for General Population
OvarianTo age 802, 3, 55.8%1.0%

BRIP1 Cancer Risk Management Table

The overview of medical management options provided is a summary of professional society guidelines. The most recent version of each guideline should be consulted for more detailed and up-to-date information before developing a treatment plan for a particular patient.

This overview is provided for informational purposes only and does not constitute a recommendation. While the medical society guidelines summarized herein provide important and useful information, medical management decisions for any particular patient should be made in consultation between that patient and his or her healthcare provider and may differ from society guidelines based on a complete understanding of the patient’s personal medical history, surgeries and other treatments.

Cancer Type Procedure Age to Begin Frequency
(Unless otherwise indicated by findings)
OvarianConsider bilateral salpingo-oophorectomy (BSO).645 to 50 years, or earlier if there is a family history of ovarian cancer at a younger ageNA
Other than consideration of BSO, currently there are no specific medical management recommendations for ovarian cancer risk in mutation carriers. However, the increase in risk may warrant consideration of individualized ovarian cancer risk-reduction strategies using other currently available options, such as surveillance and the use of risk-reducing agents.6IndividualizedNA

Information for Family Members

The following information for Family Members will appear as part of the MMT for a patient found to have a mutation in the BRIP1 gene.

A major potential benefit of myRisk genetic testing for hereditary cancer risk is the opportunity to prevent cancer in relatives of patients in whom clinically significant mutations are identified. Healthcare providers have an important role in making sure that patients with clinically significant mutations are informed about the risks to relatives, and ways in which genetic testing can guide lifesaving interventions.

In rare instances, an individual may inherit mutations in both copies of the BRIP1 gene, leading to the condition Fanconi Anemia, Complementation Group J (FANCJ). This condition is rare and includes physical abnormalities, growth retardation, progressive bone marrow failure and a high risk for cancer. The children of this patient are at risk of inheriting FANCJ only if the other parent is also a carrier of a BRIP1 mutation. Screening the other biological parent of any children for BRIP1 mutations may be appropriate.7

At this time, there are no known cancer risks for men due to mutations in BRIP1.

References

  1. Seal S, et al. Breast Cancer Susceptibility Collaboration (UK). Truncating mutations in the Fanconi anemia J gene BRIP1 are low-penetrance breast cancer susceptibility alleles. Nat Genet. 2006 38:1239-41. PMID: 17033622.
  2. Ramus SJ, et al. Germline Mutations in the BRIP1, BARD1, PALB2, and NBN Genes in Women With Ovarian Cancer. J Natl Cancer Inst. 2015 107 PMID: 26315354.
  3. Rafnar T, et al. Mutations in BRIP1 confer high risk of ovarian cancer. Nat Genet. 2011 43:1104-7. PMID: 21964575.
  4. Easton DF, et al. No evidence that protein truncating variants in BRIP1 are associated with breast cancer risk: implications for gene panel testing. J Med Genet. 2016 53:298-309. PMID: 26921362.
  5. Fast Stats: An interactive tool for access to SEER cancer statistics. Surveillance Research Program, National Cancer Institute. https://seer.cancer.gov/faststats. (Accessed on 1-2-2017)
  6. Daly M et al. NCCN Clinical Practice Guidelines in Oncology®: Genetic/Familial High-Risk Assessment: Breast, Ovarian and Pancreatic. V 1.2020. Dec 4. Available at http://www.nccn.org.
  7. Mehta PA, Tolar J. Fanconi Anemia. 2018 Mar 8. In: Pagon RA, et al., editors. GeneReviews® [Internet]. Available from http://www.ncbi.nlm.nih.gov/books/NBK1401/ PMID: 20301575.
Last Updated on 10-Dec-2020