Inherited Basaloid Neoplasms Associated With SUFU Pathogenic Variants.

ABSTRACT:

Importance

Germline SUFU pathogenic variants (PVs) have previously been associated with basal cell nevus syndrome (BCNS) and multiple infundibulocystic basal cell carcinoma syndrome; however, a broader spectrum of cutaneous findings in patients with SUFU PVs has not been well delineated.

Objective

To define the clinical and histopathologic spectrum of cutaneous findings in patients with germline SUFU PVs.

Design, setting, and participants

This case series was conducted in multiple US academic dermatology, medical genetics, and medical oncology clinics between July 2014 and July 2022. The study included patients with confirmed germline SUFU PVs who were evaluated by a dermatologist. The analysis took place from March to September 2023.

Main outcomes and measures

SUBMITTER: Abbott JJ 

PROVIDER: S-EPMC11411443 | biostudies-literature | 2024 Nov

REPOSITORIES: biostudies-literature