A 2OGD multi-gene cluster encompasses functional and tissue specificity that direct furanocoumarin and pyranocoumarin biosynthesis in citrus.

Furanocoumarins (FCs) are plant defence compounds derived from the phenylpropanoid pathway via the coumarin umbelliferone that harbour some therapeutic benefits yet are the underlying cause of 'grapefruit-drug interactions' in humans. Most of the pathway genes have not been identified in citrus. We employed a genetic/Omics approach on citrus ancestral species and F1 populations of mandarin × grapefruit and mandarin × pummelo.

Context-dependent effects of CDKN2A and other 9p21 gene losses during the evolution of esophageal cancer.

CDKN2A is a tumor suppressor located in chromosome 9p21 and frequently lost in Barrett's esophagus (BE) and esophageal adenocarcinoma (EAC). How CDKN2A and other 9p21 gene co-deletions affect EAC evolution remains understudied. We explored the effects of 9p21 loss in EACs and cancer progressor and non-progressor BEs with matched genomic, transcriptomic and clinical data.

Clinicopathologic Features of Breast Tumors in Germline TP53 Variant-Associated Li-Fraumeni Syndrome.

We present one of the largest cohorts of TP53-pathogenic germline variants (PGVs) associated with patients with Li-Fraumeni syndrome (n = 82) with breast tumors (19 to 76 y; median age: 35). Most had missense variants (77%), followed by large gene rearrangements (LGRs; 12%), truncating (6%), and splice-site (5%) variants. Twenty-one unique germline missense variants were found, with hotspots at codons 175, 181, 245, 248, 273, 334, and 337.