A new study conducted by researchers from the University of Chicago Medicine and the University of Washington, Seattle has demonstrated that young women at a genetically high risk of developing breast cancer would benefit more receiving bi-annual MRI exams rather than standard annual mammogram.
Presented on Dec. 8 at the annual San Antonio Breast Cancer Symposium, the study was conducted with the additional goal to evaluate psychosocial distress levels and quality of life in women with high risk mutations undergoing intense surveillance examinations.
"This study demonstrates, for the first time, that aggressive breast cancers can be caught early, without excessive recalls or biopsies," said Olufunmilayo Olopade, MD, a distinguished service professor of medicine and human genetics and director of the University of Chicago's Center for Clinical Cancer Genetics.
From January 2004 to December 2016, 305 women with a median age of 43 with a lifetime breast cancer risk greater than 20 percent were recruited for the study. All participants had either genetic mutations in one of 11 known breast cancer-related genes, a diagnosis of breast cancer or carcinoma in situ before age 35 or a mother or sister diagnosed with breast cancer before age 50 (or before age 40 for those of African ancestry). Additionally, more than half had mutations in breast cancer-related genes, such as BRCA1, BRCA2 or CDH1, according to the study.
All participants were required to undergo a DCE-MRI breast exam every six months and a digital mammogram every 12 months. Over the course of the entire study, 2,111 DCE MRIs (about seven per participant) and 1,223 mammograms (four per participant) were performed, according to study methods. Of 305 participants, 17 showed development of breast cancer (all smaller than a centimeter). Specifically, researchers found four ductal carcinoma in situ and 13 early stage breast cancers. None spread to the participants' lymph nodes. These 17 patients were examined over the course of five years, all remaining alive and free of systemic disease with decreased levels of anxiety over time and an improved quality of life, according to the study.
"Because of intensive surveillance and high-quality care, the majority of high-risk women in this study, most of whom had highly penetrant genetic mutations, have not developed breast cancer," Olufunmilayo I. Olopade, MD, said. "These scans performed especially well in BRCA1 mutation carriers, who are at risk for aggressive subtypes of breast cancer."
Although Olopade believes that mammograms are important for most women, they could most likely be eliminated for woman showing genetic high risk, especially those with a BRCA1 mutation.
"Women with mutations in BRCA1 or BRCA2 have very different needs for surveillance for breast disease than do women with no mutations in these genes. This is particularly true for healthy young women with mutations," Olopade concluded. "It's truly critical to offer intensive surveillance to still-healthy women with BRCA1 or BRCA2 mutations."