Taming the Medical Literature ~ For Genetic Conditions ~ Hand-Curated • Direct to You
LitAlert ~~ GeneLit.com
Rare presentations can suggest more than one rare condition: Striking personal and family cancer history in a patient with both CDKN2A and BRCA1 pathogenic variants.
Trupiano N, Koeppe E, Jacobs MF, Else T, Cha KB.
JAAD Case Rep. 2022 Nov 7 [eCollection 2023 Jan];31:42-45. doi: 10.1016/j.jdcr.2022.10.034.
Clinical Impact of Next-Generation Sequencing Multi-Gene Panel Highlighting the Landscape of Germline Alterations in Ovarian Cancer Patients.
Gurioli G, Tedaldi G, Farolfi A, Petracci E, Casanova C, Comerci G, Danesi R, Arcangeli V, Ravegnani M, Calistri D, Zampiga V, Cangini I, Fonzi E, Virga A, Tassinari D, Rosati M, Ulivi P, De Giorgi U.
Int J Mol Sci. 2022 Dec 13;23(24):15789. doi: 10.3390/ijms232415789.