Co‐occurrence of schwannomatosis and rhabdoid tumor predisposition syndrome 1
Sign Up to like & getrecommendations! Published in 2018 at "Molecular Genetics & Genomic Medicine"
DOI: 10.1002/mgg3.412
Abstract: The clinical phenotype associated with germline SMARCB1 mutations has as yet not been fully documented. It is known that germline SMARCB1 mutations may cause rhabdoid tumor predisposition syndrome (RTPS1) or schwannomatosis. However, the co‐occurrence of… read more here.
Keywords: rhabdoid tumor; tumor predisposition; schwannomatosis; predisposition syndrome ... See more keywords
A spectrum of BAP1 expression from nevus to melanoma in a patient with BAP1 tumor predisposition syndrome.
Sign Up to like & getrecommendations! Published in 2025 at "Clinical and experimental dermatology"
DOI: 10.1093/ced/llaf004
Abstract: BAP1 tumor predisposition syndrome (BAP1-TPDS) is a rare autosomal dominant disorder characterized by germline loss-of-function mutations in the BAP1 tumor suppressor gene, and patients with BAP1-TPDS are at an increased risk of developing various tumors,… read more here.
Keywords: bap1 tumor; tumor predisposition; patient bap1; predisposition syndrome ... See more keywords
P06.07 Germline mutation of SMARCE1 gene in a family with spinal meningiomas
Sign Up to like & getrecommendations! Published in 2021 at "Neuro-Oncology"
DOI: 10.1093/neuonc/noab180.084
Abstract: Meningioma is the most common benign primary intracranial tumor, arising from arachnoid cells of the meninges, but in 20% of cases displays aggressive behavior. Meningiomas are mainly sporadic and the familial forms are very rare.… read more here.
Keywords: tumor predisposition; family; gene; predisposition syndrome ... See more keywords
BRCA1-Associated Protein-1 Tumor Predisposition Syndrome in a Patient With Numerous Basal Cell Carcinomas.
Sign Up to like & getrecommendations! Published in 2019 at "Dermatologic Surgery"
DOI: 10.1097/dss.0000000000001554
Abstract: Dermatologists frequently encounter patients with a history of multiple basal cell carcinomas (BCCs). A novel tumorpredisposition syndromehasbeendescribed wherein affected patients may develop multiple BCCs andothermalignancies, including cutaneousmelanomas and atypical Spitz tumors (ASTs). The authors present… read more here.
Keywords: cell carcinomas; tumor predisposition; basal cell; predisposition syndrome ... See more keywords
Germline Pathogenic DROSHA Variants Are Linked to Pineoblastoma and Wilms Tumor Predisposition
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DOI: 10.1158/1078-0432.ccr-24-2785
Abstract: Abstract Purpose: DROSHA, DGCR8, and DICER1 regulate miRNA biogenesis and are commonly mutated in cancer. Although DGCR8 and DICER1 germline pathogenic variants (GPV) cause autosomal dominant tumor predisposition, no association between DROSHA GPVs and clinical… read more here.
Keywords: tumor predisposition; wilms tumor; drosha; drosha gpvs ... See more keywords
Difficult to Diagnose Cutaneous Melanoma in a Patient with BAP1 Tumor Predisposition Syndrome.
Sign Up to like & getrecommendations! Published in 2023 at "International journal of surgical pathology"
DOI: 10.1177/10668969231152579
Abstract: BRCA1-associated protein 1 (BAP1)-inactivated melanomas can occur sporadically or in germline contexts, particularly in recently recognized BAP1-tumor predisposition syndrome. Diagnosis represents a clinical and histopathological challenge, requiring comprehensive analysis of morphology and sometimes molecular analysis… read more here.
Keywords: tumor predisposition; melanoma; bap1; predisposition syndrome ... See more keywords
Predictive Testing for Tumor Predisposition Syndromes in Pediatric Relatives: An Asian Experience
Sign Up to like & getrecommendations! Published in 2020 at "Frontiers in Pediatrics"
DOI: 10.3389/fped.2020.568528
Abstract: Approximately 10% of pediatric cancer patients possess germline pathogenic/likely pathogenic variants (PV/LPV) in known tumor predisposition genes. Predictive testing is the optimal approach to identify asymptomatic at-risk relatives to guide gene-directed surveillance for early cancer… read more here.
Keywords: predictive testing; tumor predisposition; pediatric fdrs;
Diagnostics of BAP1-Tumor Predisposition Syndrome by a Multitesting Approach: A Ten-Year-Long Experience
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DOI: 10.3390/diagnostics12071710
Abstract: Germline mutations in the tumor suppressor gene BRCA1-associated protein-1 (BAP1) lead to BAP1 tumor predisposition syndrome (BAP1-TPDS), characterized by high susceptibility to several tumor types, chiefly melanoma, mesothelioma, renal cell carcinoma, and basal cell carcinoma.… read more here.
Keywords: tumor predisposition; bap1; tumor; bap1 tumor ... See more keywords