Women who carry a certain rare breast cancer mutation are more likely to develop interval cancers than women who do not, according to a study published in the November issue of Cancer Research, a journal of the American Association for Cancer Research (AACR).
A team led by Jingmei Li, PhD, of the Genome Institute of Singapore examined data from the Stockholm-Gotland Regional Breast Cancer Quality Registry that included 5,099 women diagnosed with breast cancer between 2001 and 2008. The group tracked associations with tumor characteristics and survival outcomes for patients with rare mutations called protein-truncating variants in 31 genes associated with cancer, including BRCA1 and BRCA2 (Cancer Res, November 1, 2018, Vol. 78:21, pp. 6329-6338).
Of the 5,099 breast cancer patients, 597 carried protein-truncating variants. These women were younger, had more aggressive tumor phenotypes, and had 1.65 times the risk of death from interval breast cancer compared with those who did not carry the variants, Li and colleagues found. In addition, when they excluded the 92 women who carried BRCA1 or BRCA2 mutations, women who carried protein-truncating variants had 1.76 times the risk of death from interval breast cancer.
"Our study shows that different variants are associated with different kinds of breast cancer, and that women carrying rare variants have a higher risk of developing interval breast cancers and have worse overall survival compared to women with common mutations," Li said in a statement released by the AACR.
![Examples of ultrasound findings and techniques. (A) Images in a 39-year-old male patient with a mass in the left thigh. The mass is heterogeneous on the B-mode US image (compared with the patient in D) and showed increased microvascularity (superb microvascular imaging [SMI]) and shear-wave elastography (SWE) values. Undifferentiated pleomorphic sarcoma was diagnosed at biopsy (with pleomorphic rhabdomyosarcoma in surgical specimen). (B) Images in an 18-year-old male patient with a mass in the left leg. The mass is hypoechoic on the B-mode image, with no other findings suggestive of malignancy. The lesion is in contact with the cortex of the tibia, which is slightly irregular. CT revealed a doubtful anteromedial tibial erosion. The microvascular study demonstrated high vascularization, suggestive of malignancy. Periosteal Ewing sarcoma was diagnosed with both histologic and immunohistochemical confirmation. (C) Images in a 69-year-old female patient with a lump growing on the outside of the left leg. Multiple SWE examinations were performed (please note the high values obtained in the measurements, whereas the color map highlights the stiffness relative to adjacent tissues). SMI showed areas of increased vascularization to target for sampling. Undifferentiated spindle cell sarcoma was diagnosed at biopsy, with residual leiomyosarcoma in the surgical specimen after neoadjuvant therapy. (D) Images in a 56-year-old female patient with a mass in the right thigh. The mass is heterogeneous at both B-mode ultrasound (similar to patient A) and MRI (coronal T2-weighted spectral attenuated inversion recovery [SPAIR]; T1-weighted pre-contrast and postcontrast imaging), which even shows uptake after the administration of paramagnetic contrast material, which is traditionally suggestive of malignancy. Low values at SMI and elastography are suggestive of benignity. Spindle cell lipoma was diagnosed at biopsy, with atypical spindle cell lipomatous tumor in the surgical specimen.](https://img.auntminnie.com/mindful/smg/workspaces/default/uploads/2026/08/images-radiol250278fig2.APCFLSvX6p.jpg?auto=format%2Ccompress&dpr=2&fit=crop&h=167&q=70&w=250)