STK11

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STK11

A gene on chromosome 19p13.3 that encodes a ubiquitously expressed serine/threonine-protein kinase which controls the activity of AMP-activated protein kinase (AMPK) family members, playing a role in various cellular processes such as cell metabolism, cell polarity, apoptosis and DNA damage response. STK11 acts by phosphorylating the T-loop of AMPK family proteins, upregulating their activity.

Molecular pathology
Defects in STK11 are a cause of Peutz-Jeghers syndrome; it has been linked to testicular germ cell tumours and sporadically to non-small cell carcinomas of the lung. Defects in STK11 also promote carcinogenesis, including lung cancer progression and metastasis, and confers in lung adenocarcinoma the ability to trans-differentiate into squamous cell carcinoma.

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References in periodicals archive ?

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.

A Case of Male Primary Pulmonary Choriocarcinoma

High proportion of large genomic STK11 deletions in Peutz-Jeghers syndrome.

The patients with Peutz-Jeghers syndrome have a high risk of developing cancer

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.

Molecular Genetic Analysis of Human Endometrial Mesenchymal Stem Cells That Survived Sublethal Heat Shock

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 [10].

STK11 rs2075604 Polymorphism Is Associated with Metformin Efficacy in Chinese Type 2 Diabetes Mellitus

Serine threonine kinase 11 (STK11) is a key regulator of a family of kinases including AMPK.

Association between STK11 Gene Polymorphisms and Coronary Artery Disease in Type 2 Diabetes in Han Population in China

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.

Analysis of Base-Position Error Rate of Next-Generation Sequencing to Detect Tumor Mutations in Circulating DNA

Genetic variations in STK11, PRKAA1, and TSC1 associated with prognosis for patients with colorectal cancer.

Association of PRKAA1 gene polymorphisms with chronic hepatitis b virus infection in Chinese Han population

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 [112].

Nrf2 and Notch Signaling in Lung Cancer: Near the Crossroad

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).

Frecuencia de mutacion y de variantes de secuencia para los genes BRCA1 y BRCA2 en una muestra de mujeres colombianas con sospecha de sindrome de cancer de mama hereditario: serie de casos

2) Peutz-Jeghers syndrome due to mutations in the STK11 tumor suppressor gene (very rare, but a very strong risk factor).

Pancreatic carcinoma: review of literature

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.

Sulfonylureas

(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).