Putative new childhood leukemia cancer predisposition syndrome caused by germline bi‐allelic missense mutations in DDX41
Sign Up to like & getrecommendations! Published in 2018 at "Genes"
DOI: 10.1002/gcc.22680
Abstract: DDX41 has recently been identified as a new autosomal dominantly inherited cancer predisposition syndrome causing increased risk of adult onset acute myeloid leukemia (AML) or myelodysplastic syndrome (MDS). We report for the first time compound… read more here.
Keywords: cancer; cancer predisposition; predisposition syndrome; mutations ddx41 ... See more keywords
Co‐occurrence of schwannomatosis and rhabdoid tumor predisposition syndrome 1
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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
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.
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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
Difficult to Diagnose Cutaneous Melanoma in a Patient with BAP1 Tumor Predisposition Syndrome.
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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
Case report: Mesothelioma and BAP1 tumor predisposition syndrome: Implications for public health
Sign Up to like & getrecommendations! Published in 2022 at "Frontiers in Oncology"
DOI: 10.3389/fonc.2022.966063
Abstract: BRCA-1 associated protein 1 (BAP1) tumour predisposition syndrome (TPDS) is a hereditary condition characterised by germline mutation of the tumour suppressor BAP1. This disorder is associated with the development of various benign and malignant tumours,… read more here.
Keywords: case report; predisposition; predisposition syndrome; mesothelioma ... See more keywords