Estimated risks for cancer with BRCA1 and BRCA2 pathogenic variants

Estimated risks for cancer with BRCA1 and BRCA2 pathogenic variants

Cancer type	Lifetime risk to age 70 in carriers*	Lifetime risk to age 70 in general population^¶	Comments
Breast (female)	BRCA1: 57 to 72% BRCA2: 45 to 69%	9%	In most studies, lifetime risk in BRCA1 carriers is higher than that observed in BRCA2 carriers. The incidence of breast cancer diagnosed younger than 50 years of age is higher in BRCA1 carriers compared with BRCA2 carriers, but both groups have an increased risk of premenopausal breast cancer.
Contralateral (opposite) breast (female)	Up to 63% at 25 years postdiagnosis but highly dependent on age at diagnosis of first breast cancer	0.4% annual risk and 10% at 25 years postdiagnosis^[1]	Risk is affected by other factors such as tamoxifen use and oophorectomy. Mutation carriers who have had lumpectomy have increased ipsilateral risks over long follow-up periods.
Ovarian	BRCA1: 39 to 59% BRCA2: 11 to 20%	1%	The incidence of ovarian cancer diagnosed younger than 50 years of age is higher in BRCA1 carriers and overall rare in all carriers younger than 40 years old. Risk of fallopian tube cancer is also substantially elevated.
Prostate	BRCA1: Approximately 15 to 20% BRCA2: Approximately 13 to 30%	6% White Americans 10% Black Americans	Risk appears to be higher in BRCA2 carriers and in males younger than 65 years old.
Breast (male)	BRCA1: 0.2 to 1% BRCA2: 2 to 7%	0.1%	Risk before age 50 is very low.
Pancreatic	BRCA1: 1 to 3% BRCA2: 2 to 5%	0.6%
Colon	Not well defined	2%	Studies have not been consistent about whether risk is elevated. If elevated, risk is likely to be small.
Melanoma	Not well defined	Approximately 2% White Americans 0.1% Black Americans	Increased risk for ocular melanoma in BRCA2 carriers.
Other sites	Not well defined	Varied	These sites may include cancer of the stomach, gall bladder, and biliary tree in BRCA2 carriers, as well as uterine serous carcinoma in BRCA1 and BRCA2 carriers.

These risks are estimates based upon review of the literature that focuses on individuals identified based on a positive family history. Risk may differ (ie, may be lower) in individuals with a negative family history, although data are extremely limited. Specific studies have reported risks that are lower or higher than the ranges or estimates quoted; however, the estimates reported here are representative of findings from high-quality studies in BRCA1 and BRCA2 families. Risks will also vary based on an individual's current age and other risk factors. (Refer to UpToDate topic on cancer risks and management of BRCA1/2 carriers without cancer.)

BRCA: breast cancer susceptibility genes; SEER: Surveillance, Epidemiology, and End Results.

* Risk to individuals over age 70 is higher, but data are generally unavailable.

¶ Lifetime risk at birth for all races unless otherwise specified.

Data from: DevCan Version 6.7.9, April 2021, National Cancer Institute. Available at https://surveillance.cancer.gov/devcan/ (Accessed on April 29, 2022).

Reference:

Giannakeas V, Lim DW, Narod SA, et al. The risk of contralateral breast cancer: a SEER-based analysis. Br J Cancer 2021; 125:601.

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Estimated risks for cancer with BRCA1 and BRCA2 pathogenic variants