Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Article

Mosaic SUFU mutation associated with a mild phenotype of multiple hereditary infundibulocystic basal cell carcinoma syndrome.

The Journal of dermatology - 1 Jan 2025

Hamada Marina, Hida Tokimasa, Idogawa Masashi, Tange Shoichiro, Kamiya Takafumi, Okura Masae, Yamashita Toshiharu, Tokino Takashi, Uhara Hisashi

Abstract excerpt

Multiple hereditary infundibulocystic basal cell carcinoma syndrome (MHIBCC), an autosomal dominant disorder caused by variants in SUFU, is characterized by numerous infundibulocystic basal cell carcinomas (IBCCs). In this report, we present a possible case of mosaic MHIBCC. A 57-year-old woman underwent the removal of four papules on her face, which were diagnosed as IBCCs. Exome sequencing revealed a SUFU...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to Carcinoma, Basal Cell
Share to Exome Sequencing

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Loss of Heterozygosity

Share to Mosaicism

Share to Mutation

Share to Phenotype

Share to Repressor Proteins

Share to Skin Neoplasms

Source

Identifiers

PMID: 39158191
DOI: 10.1111/1346-8138.17434

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Mosaic SUFU mutation associated with a mild phenotype of multiple hereditary infundibulocystic basal cell carcinoma syndrome.PMID 39158191Read ↗

Multiple Hereditary Infundibulocystic Basal Cell Carcinoma Syndrome Associated With a GermlineSUFUMutationSemantic proximity Read ↗

Clinicopathological and molecular spectrum of patients with germline SUFU mutations: A case series.Semantic proximity Read ↗

Clues to primary vismodegib resistance lie in histology and geneticsSemantic proximity Read ↗

Infundibulocystic Basal Cell Carcinomas and the SUFU Snafu.Semantic proximity Read ↗

Hedgehog Pathway Alterations Downstream of Patched-1 Are Common in Infundibulocystic Basal Cell Carcinoma.Semantic proximity Read ↗

Multiple Hereditary Infundibulocystic Basal Cell CarcinomasSemantic proximity Read ↗

A novel missense mutation in the folliculin gene associated with the renal tumor-only phenotype of Birt-Hogg-Dubé syndrome.Semantic proximity Read ↗

SUFU ‐associated Gorlin syndrome: Expanding the spectrum between classic nevoid basal cell carcinoma syndrome and multiple hereditary infundibulocystic basal cell carcinomaSemantic proximity Read ↗

Piebaldism with café-au-lait macules resulting from a novel mutation of KIT gene in a three-generation Chinese family.Semantic proximity Read ↗

Tumor of Follicular Infundibulum Is Molecularly Distinct From Basal Cell Carcinoma.Semantic proximity Read ↗

Expanding mutational spectrum of HRAS by a patient with Schimmelpenning-Feuerstein-Mims syndrome.Semantic proximity Read ↗

Case report of a Li-Fraumeni syndrome-like phenotype with a de novo mutation in CHEK2.Semantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.