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| Adult solid tumours cancer susceptibility v2.7 | RABL3 | Israel Gomy Deleted their review | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Adult solid tumours cancer susceptibility v2.7 | RABL3 | Israel Gomy Deleted their comment | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Adult solid tumours cancer susceptibility v1.9 | RABL3 | Ellen McDonagh Phenotypes for gene: RABL3 were changed from PANCREATIC CANCER, SUSCEPTIBILITY TO, 5; PNCA5 OMIM 618680 to {?Pancreatic cancer, susceptibility to, 5} 618680 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Adult solid tumours cancer susceptibility v1.8 | RABL3 | Ellen McDonagh Marked gene: RABL3 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Adult solid tumours cancer susceptibility v1.8 | RABL3 | Ellen McDonagh Gene: rabl3 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Adult solid tumours cancer susceptibility v1.8 | RABL3 | Ellen McDonagh Classified gene: RABL3 as Red List (low evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Adult solid tumours cancer susceptibility v1.8 | RABL3 | Ellen McDonagh Added comment: Comment on list classification: This gene was added by a reviewer and rated Green. Curated and added to the panel as Red, as this is a new publication describing only one family where a variant in this gene was reported as being associated with hereditary pancreatic cancer (PMID: 31406347). This is still displayed in OMIM as {?Pancreatic cancer, susceptibility to, 5} until more evidence arises. Functional evidence for an effect, but as there is only one family, this should remain Red until further evidence arises. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Adult solid tumours cancer susceptibility v1.8 | RABL3 | Ellen McDonagh Gene: rabl3 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Adult solid tumours cancer susceptibility v1.7 | RABL3 |
Israel Gomy gene: RABL3 was added gene: RABL3 was added to Adult solid tumours cancer susceptibility. Sources: Literature,Research Mode of inheritance for gene: RABL3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: RABL3 were set to 31406347 Phenotypes for gene: RABL3 were set to PANCREATIC CANCER, SUSCEPTIBILITY TO, 5; PNCA5 OMIM 618680 Penetrance for gene: RABL3 were set to unknown Mode of pathogenicity for gene: RABL3 was set to Other Review for gene: RABL3 was set to GREEN Added comment: Susceptibility to pancreatic ductal adenocarcinoma (PDAC) may be conferred by mutation in RABL3. Other cancers, including melanoma, breast cancer, and colon cancer, have been reported in RABL3 mutation-carrying individuals, with or without PDAC. Expression of S36X-mutant RABL3 in HEK293T cells resulted in enhanced cell proliferation consistent with an oncogenic effect. Zebrafish with truncated rabl3 protein developed cancers at a statistically significant elevated rate compared to wildtype sibs. Other studies in zebrafish confirmed the role of mutant RABL3 in promoting cancer susceptibility. Sources: Literature, Research |
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