Women with variants of unknown significance (VUS) underwent annual breast magnetic resonance imaging (MRI) surveillance less often than women with pathogenic and likely pathogenic (P/LP) variants. These findings were published in Cancer.

Annual screening for breast cancer is recommended by current guidelines. As patients with VUS are underrepresented in the literature, this study sought to evaluate the real-world uptake of breast cancer screening in this patient population.

Investigators at the University of Texas MD Anderson Cancer Center sourced data from Cooper University Health Care and OhioHealth. A total of 889 women who underwent genetic counseling for breast cancer between 2013 and 2018 were evaluated for risk variants and subsequent breast cancer surveillance.

Continue Reading

Women with (547) and without (342) a personal history of breast cancer were mean age 54.1 and 48.2 years, 62.5% and 37.7% had VUS (P <.001), and 54.1% and 38.3% had a moderately penetrant allele (P <.001), respectively.

The proportion of women with VUS who underwent mammography and/or breast MRI after genetic testing decreased from 49.8% in year 1 to 31.2% in year 6 for those with no history of breast cancer and increased from 59.3% to 63.6% in the same time period among women with a history of breast cancer.

Women with VUS were less likely to undergo a breast MRI at 1, 2, or 3 years following genetic counselling among women both with (all P ≤.012) and without (all P ≤.03) a personal history of breast cancer compared with women who had P/LP variants.

Women with VUS were also less likely to undergo risk reducing mastectomy than those with P/LP variants (hazard ratio [HR], 0.17; P <.001).

Future studies are needed to evaluate screening outcomes to determine the best screening schedule for women with VUS.

Women with or without a personal history of breast cancer who had VUS were less likely to undergo breast cancer screening or mastectomy than women with P/LP variants.

Disclosure: Multiple authors declared affiliations with industry. Please see the original reference for a full list of disclosures.


Makhnoon S, Chen M, Levin B, et al. Use of breast surveillance between women with pathogenic variants and variants of uncertain significance in breast cancer susceptibility genes. Cancer. Published online August 23, 2022. doi:10.1002/cncr.34429