Wai Chan - Department of Biomedical Imaging, University Malaya Research Imaging Center, University of Malaya, Kuala Lumpur, Malaysia
Marlina Tanty Ramli Hamid - Department of Radiology, Faculty of Medicine, University Teknologi MARA, Sungai Buloh Campus, Selangor, Malaysia
Caroline Judy Westerhout - Department of Biomedical Imaging, University Malaya Research Imaging Center, University of Malaya, Kuala Lumpur, Malaysia
Tan Tze - Department of Biomedical Imaging, University Malaya Research Imaging Center, University of Malaya, Kuala Lumpur, Malaysia
Jayalakshmi Pailoor - Department of Pathology, Faculty of Medicine, University of Malaya, Kuala Lumpur, Malaysia
Kartini Rahmat - Department of Biomedical Imaging, University Malaya Research Imaging Center, University of Malaya, Kuala Lumpur, Malaysia

With a prevalence of approximately ۱ out of ۲,۵۰۰ to ۴,۰۰۰ births, neurofibromatosis type ۱ (NF۱), also known as von Recklinghausen’s disease, is one of the most prevalent autosomal dominant diseases in humans. There is four to five-fold increased risk of malignancy in these patients due to the presence of NF۱ gene mutation, which is a tumour suppressor inhibiting RAS activation. NF۱ is known to be closely associated with central nervous system (CNS) tumours; however, its association with other non-CNS malignancies is not uncommon. Mutation of BRCA۱ (breast cancer ۱, early onset) and BRCA۲ (breast cancer ۲, susceptibility protein) genes has long been recognized as an important risk factor for the develpoment of breast cancer. Incidentally, BRCA۱ and NF۱ genes are both located in the long arm of chromosome ۱۷. The association between NF۱ and breast cancer has long been debated; recent studies, on the other hand, have established this association, with NF۱ unequivocally identified as breast cancer susceptibility gene conferring a moderate risk of breast cancer development. In this report, we described multimodality imaging features of breast cancer in two women with NF۱; we further reviewed the literatures on the association between NF۱ and breast cancer and its diagnostic challenge.

Neurofibromatosis type ۱, Breast cancer, Risk factor, MRI