Background PIK3CA-related disorders include vascular malformations and overgrowth of
various tissues that are caused by postzygotic, somatic variants in the gene encoding …

Members of the family of RAS proto-oncogenes, discovered just over 40 years ago, were
among the first cancer-initiating genes to be discovered. Of the three RAS family members …

RASopathies comprise a group of clinically overlapping developmental disorders caused by
genetic variations affecting components or modulators of the RAS‐MAPK signaling cascade …

Abstract Mitogen Activated Protein Kinase (MAPK) is one of the most well characterized
cellular signaling pathways that controls fundamental cellular processes including …

Purpose: To determine the cancer risk and spectrum in patients with multilineage mosaic
RASopathies with pathogenic variants (PV) in HRAS or KRAS. Experimental Design: We …

Mosaic KRAS variants and other RASopathy genes cause oculoectodermal, encephalo‐
cranio‐cutaneous lipomatosis, and Schimmelpenning‐Feuerstein‐Mims syndromes, and a …

Background Cutaneous epidermal nevi are genotypically diverse mosaic disorders.
Pathogenic hotspot variants in HRAS, KRAS, and less frequently, NRAS and BRAF may …

The majority of giant cell lesions of the jaw present as a solitary focus of disease in bones of
the maxillofacial skeleton. Less frequently they occur as multifocal lesions. This raises the …

Simple Summary Congenital lateralized or segmental overgrowth (LO) disorders are
conditions characterized by excessive tissue growth of a body region often associated with a …

Abstract Purpose The ectodermal dysplasias (EDs) constitute a group of disorders
characterized by abnormalities in two or more ectodermal derivatives, including skin, hair …