The BAP1 gene and nail abnormalities
Scientists at the NIH have discovered that a specific benign nail abnormality might indicate the presence of a rare inherited disorder known as BAP1 tumour predisposition syndrome. This condition, caused by mutations in the BAP1 gene, significantly increases the risk of developing cancerous tumours in various parts of the body, including the skin, eyes, kidneys, and the tissue lining the chest and abdomen.
Image source: Science Photo Library
The findings, published in JAMA Dermatology and presented at the Society for Investigative Dermatology Annual Meeting, originated from a study involving 47 individuals from 35 families with BAP1 tumour predisposition syndrome. Participants underwent dermatological screenings at enrollment and annually, revealing a surprising pattern: many had a particular nail abnormality called onychopapilloma.
What is Onychopapilloma?
Onychopapilloma manifests as a coloured band, typically white or red, along the length of the nail, accompanied by thickening of the nail and the underlying nail bed. This benign tumour usually affects only one nail. However, among study participants over the age of 30 with BAP1 tumour predisposition syndrome, 88% exhibited onychopapilloma on multiple nails. The presence of onychopapilloma on multiple nails, especially in individuals with a personal or family history of melanoma or other BAP1-associated malignancies, should prompt consideration of BAP1 tumour predisposition syndrome as a diagnosis.
The importance of early detection
The discovery highlights the potential of nail screenings as a valuable tool for the early detection of BAP1 tumour predisposition syndrome. An observant patient who reported subtle nail changes during a baseline genetic assessment inspired the systematic evaluation of other participants, leading to this critical finding.
Biopsies of the affected nails confirmed the presence of onychopapilloma, linking it to BAP1 mutations. This insight opens the door to earlier interventions and more proactive management of the syndrome, potentially reducing the risk of developing related cancers.
How does this research help in the future discovery of cancer?
The ongoing research, including the study protocol “Long Term Follow-up of Mesothelioma Patients and Their Family Members With Germline Mutations in BAP1 and Other Genes,” aims to further understand the implications of BAP1 mutations and develop effective screening and treatment strategies. The connection between nail abnormalities and cancer risk offers a promising avenue for early detection and intervention. The NIH’s findings highlight the importance of paying attention to subtle changes in our bodies, as they could be indicative of more significant health issues.
Compulsory tests for moms-to-be