Characterization of intractable diarrhea resulting from vismodegib treatment for basal cell nevus syndrome

Patel, Ashmi; Salah, Haneen; Hamel, Remi K.; Hall, Elizabeth L.; Crumley, Suzanne M.; Woods, Karen; Goldberg, Leonard Harry

doi:10.1016/j.jdcr.2022.07.030

Cited by 2 publications

(1 citation statement)

References 11 publications

(20 reference statements)

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“…BCNS is clinically characterized by the early onset of multiple basal cell carcinomas, keratocysts of the jaws (OCKs), palmar and plantar pits, and calcification of the falx cerebri, along with other skeletal, ophthalmologic, and neurologic malformations, as well as multiple neoplasia starting from childhood [ 205 , 207 , 208 , 209 ]. Genotype–phenotype studies revealed that the occurrence of medulloblastomas is higher in patients with a SUFU heterozygous PV, whereas OKCs do not occur in patients with this genotype [ 210 ].…”

Section: Gorlin-goltz Syndrome (Basal Cell Nevus Syndrome)mentioning

confidence: 99%

Personalized Systemic Therapies in Hereditary Cancer Syndromes

Mastrodomenico

Piombino

Riccò

et al. 2023

Genes

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Hereditary cancer syndromes are inherited disorders caused by germline pathogenic variants (PVs) that lead to an increased risk of developing certain types of cancer, frequently at an earlier age than in the rest of the population. The germline PVs promote cancer development, growth and survival, and may represent an ideal target for the personalized treatment of hereditary tumors. PARP inhibitors for the treatment of BRCA and PALB2-associated tumors, immune checkpoint inhibitors for tumors associated with the Lynch Syndrome, HIF-2α inhibitor in the VHL-related cancers and, finally, selective RET inhibitors for the treatment of MEN2-associated medullary thyroid cancer are the most successful examples of how a germline PVs can be exploited to develop effective personalized therapies and improve the outcome of these patients. The present review aims to describe and discuss the personalized systemic therapies for inherited cancer syndromes that have been developed and investigated in clinical trials in recent decades.

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