Clinicopathological and molecular spectrum of patients with germline <i>SUFU</i> mutations: A case series
Germline SUFU mutation carriers should be recognized as a distinct group of patients carrying specific health risks, independent of meeting the BCNS criteria. Phenotypic prediction based on the specific SUFU mutation seems unfeasible. It is of utmost importance that the less apparent MHIBCC phenotype is recognized, to provide (second generation) germline SUFU mutation carriers appropriate healthcare.
Authors
- Sanne R. Martens‐de Kemp (ORCID: https://orcid.org/0000-0002-8889-1631)
- Jeffrey Damman (ORCID: https://orcid.org/0000-0001-5997-7551)
- Walter Voogt
- Antien L. Mooyaart (ORCID: https://orcid.org/0000-0001-9810-5780)
- Marlies Wakkee (ORCID: https://orcid.org/0000-0001-8578-901X)
- Mashiro van Dal
Institutions
- Erasmus MC (NL)
- Erasmus MC Cancer Institute (NL)
Publication Details
- Journal
- Journal of Cutaneous Pathology
- Published
- 2024-09-14
- DOI
- https://doi.org/10.1111/cup.14720
- Citations
- 4
- Primary Topic
- Hedgehog Signaling Pathway Studies
- Type
- article
- Field-Weighted Citation Impact
- 0.94