Eight somatic mutations (STK11
c.291-1G>C, TP53 p.D281E, SMARCA4 p.E1542*, PCNT p.E1491D, INPP4B p.N228K, ALK p.S639R, DNMT3A p.Y395C, and INPP4B p.T671S) were detected in tumor-peripheral blood paired genetic testing.
High proportion of large genomic STK11
deletions in Peutz-Jeghers syndrome.
Large TP53-regulated gene cluster with many hub proteins related to tumor suppression (TP53, STK11
, CDKN1a, CDKN2A, TSC2) and excision DNA repair (PARP1, SP1, PML and ERCC2) indicates that SHS-survived eMSC trigger stress protection.
Serine-threonine kinase 11 (STK11
), also known as LBK1, is an important upstream activator of AMPK which can phosphorylate within the activation loop of the a-subunit .
Serine threonine kinase 11 (STK11
) is a key regulator of a family of kinases including AMPK.
In the remaining 6 cases, TP53, erb-b2 receptor tyrosine kinase 2 (ERBB2), discoidin domain receptor tyrosine kinase 2 (DDR2), and serine/threonine kinase 11 (STK11
) variants were detected once, suggesting the selection of subclones during the course of tumor evolution.
Genetic variations in STK11
, PRKAA1, and TSC1 associated with prognosis for patients with colorectal cancer.
have demonstrated that it is possible to distinguish an LCNEC SCLC-like group, carrying MYCL1 amplifications and mutations in both RB1 and TP53 genes from an AD/SQ-like group, harboring CDKN2A deletions, TTF1 amplifications, and frequent mutations in KEAP1 and STK11
. This represents a picture of an evolutionary trunk that can branch to SCLC or AD/SQ on the basis of a different genetic background .
Son varios los genes que confieren predisposicion al cancer de mama, incluyendo las variantes en los genes: TP53, PTEN, STK11
y CDH1 (5); sin embargo, las variantes geneticas de los genes BRCA1 y BRCA2, ubicados en los cromosomas 17q y 13q respectivamente, son las mas prevalentes, siendo responsables de cerca del 30% de los casos de HBOC (5, 6).
2) Peutz-Jeghers syndrome due to mutations in the STK11
tumor suppressor gene (very rare, but a very strong risk factor).
Impact of KCNJ11 TCF7L2 SLC30A8 IGF2BP2 PPARG SLC47A1 STK11
HHEX KCNQ1 CDKAL1 FTO CYP2C9 ADIPOQ CAPN10 gene polymorphisms on risk of type 2 diabetes and therapeutic response to sulfonylurea and metformin therapy.
(5) Highly penetrant genetic mutations in TP53 (Li-Fraumeni syndrome), PTEN (Cowden syndrome), CDH1 (Hereditary Diffuse Gastric Cancer syndrome), and STK11
(Peutz Jeghers syndrome) have long been recognized as possible causes of hereditary breast cancer, and now panel testing includes these along with moderately penetrant genes such as checkpoint kinase 2 (CHEK2), ATM serine/ thereonine kinase (ATM), and partner and localizer of BRCA2 (PALB2).