O06: Penetrance and prevalence of CDKN2A pathogenic variants in a large institutional cohort: Scrutinizing the common p.Ile49Thr variant
Year: 2024
Type: article
Study design: Observational Study
Abstract: Likely pathogenic and pathogenic variants (LP/PV) in CDKN2A are associated with Familial Atypical Multiple Mole Melanoma syndrome, which increases risk for melanoma and pancreatic ductal adenocarcinoma (PDAC). The I49T variant (NM_000077.4 c.146T>C; p.Ile49Thr) has been posited as a reduced penetrance Hispanic founder variant. As many studies on CDKN2A LP/PVs have been conducted in affected populations meeting criteria for genetic testing, there are a paucity of data regarding the penetrance of PDAC and melanoma among individuals with CDKN2A LP/PVs, including I49T, in an unselected population.
Source: Genetics in Medicine Open
Institution: City Of Hope National Medical Center
Language: English
Subfield: Genetics
Domain: Life Sciences
Open Access status: gold
Estimated APC paid: $3,200
OpenAlex ID: W4392589033