Breast density in NF1 women: a retrospective study

Area of Science:

• Oncology
• Genetics
• Radiology

Background:

• Neurofibromatosis type 1 (NF1) is an autosomal dominant disorder linked to increased tumor predisposition.
• Women with NF1 have a higher incidence of breast cancer (BC) and reduced survival rates.
• Breast density is an independent risk factor for BC.

Purpose of the Study:

• To evaluate breast density variations in women with NF1 compared to the general population.
• To determine if NF1 influences breast density, a known breast cancer risk factor.

Main Methods:

• Mammograms from 98 women with NF1 and 300 healthy controls were analyzed.
• Breast density was assessed by a radiologist and Computer-Aided Detection (CAD) software.
• Statistical analyses included Chi-squared tests and multivariable logistic models, adjusting for age, BMI, pregnancies, and menopausal status.

Main Results:

• Breast density was influenced by BMI and menopausal status in both NF1 patients and controls.
• No significant difference in breast density was observed between the NF1 patient group and the healthy control group.
• These findings remained consistent after adjusting for potential confounding factors.

Conclusions:

• Despite NF1 and dense breasts being breast cancer risk factors, NF1 patients exhibit comparable breast density to healthy individuals.
• Pathogenic variants in the NF1 gene do not appear to influence breast density values.