Mutations in the
STK11 gene characterize minimal deviation adenocarcinoma of the uterine cervix.
Aun mas, con la implementacion de paneles multigen, se sabe que muchos casos de cancer de mama hereditario presentan mutaciones en otros genes ademas del BRCA1 y BRCA2; por tanto para mejorar la sensibilidad del diagnostico genetico se sugieren plataformas de secuenciacion de muchos genes que incluyen los genes de alta penetrancia, como lo es la secuenciacion de nueva generacion o NGS (Next Generation Sequencing), en esta se incluyen genes como: ATM, BARD1, BRIP1, CDH1, CHEK2, MRE11A, MSH6, NBN, PALB2, PTEN, RAD51, RAD51C,
STK11 TP53, los cuales son hoy en dia el siguiente estandar en el estudio de HBOC (23).
Table 2: Molecular alterations in invasive pancreatic adenocarcinoma Gene Chromosomal Percentage of Carcinoma Region with Genetic Alteration KRAS 12p 90 P16/CDKN2A 9p 95 TP53 17p 50-70 SMAD4 18q 55 AKT2 19q 10-20 MYB 6q 10 NCOA3/AIB1 20q 10 BRCA2 13q 7-10 GATA-6 18q 10
STK11 19p 5 MAP2K4/MKK4 17p 5 TGFp-RI 9q 2 TGFH-R2 3p 2 RB1 13q 5
The trial evaluated the BRCAplus panel, which combines next-generation sequencing with array comparative genomic hybridisation, to deliver mutation analysis in six high-risk genes, including BRCA1, BRCA2, PTEN, TP53, CDH1 and
STK11.
The syndrome is caused by mutations in
STK11 /LKB1.
Other less common mutations in IPMNs include PIK3CA (3%-11%), AKT1 (3 of 36, 8%), CDKN2Ap16 (18%), SMAD4 (1 of 52, 2%), CTNNB1/[beta]-catenin (2 of 52, 4%), IDH1 (2 of 52, 4%),
STK11 (2 of 52, 4%), PTEN (2 of 52, 4%), ATM (1 of 52, 2%), CDH1 (1 of 52, 2%), FGFR3 (1 of 52, 2%), and SRC (1 of 52, 2%).
9] Human genes: JAK3, Janus kinase 3; KRAS, V-Ki-ras2 Kirsten rat sarcoma viral oncogene homolog; GNAS, GNAS complex locus; AKT1, v-akt murine thymoma viral oncogene homolog 1; APC, adenomatous polyposis coli; MET, met protooncogene; PIK3CA, phosphatidylinositol-4,5-bisphosphate 3-kinase; RB1, retinoblastoma 1;
STK11, serine/threonine kinase 11; TP53, tumor protein p53; SMAD4, SMAD family member 4; ATM, ataxia telangiectasia mutated; IDH1, isocitrate dehydrogenase 1 (NADP+); NRAS, neuroblastoma RAS viral (v-ras) oncogene homolog.
The company added that it had also introduced a new high-risk hereditary breast cancer panel (BRCAplus) that simultaneously analyses six clinically actionable genes -- BRCA1, BRCA2, CDH1, PTEN,
STK11 and TP53.
2) Peutz-Jeghers syndrome has been linked to a mutation of the
STK11 (LKB1) gene on chromosome 19, which is present in 20% to 70% of affected individuals with a family history and 14% to 50% of affected individuals with no family history of Peutz-Jeghers syndrome.
These inherited gene mutations include p16/CDKN2A [9] (cyclin-dependent kinase inhibitor 2A) (familial melanoma), PRSS1 [protease, serine 1 (trypsin 1)] (familial pancreatitis), BRCA2 (breast cancer 2, early onset) (hereditary breast and ovarian cancer),
STK11 (serine/threonine kinase 11) (Peutz-Jeghers syndrome), and several genes involved in DNA mismatch repair that are defective in hereditary nonpolyposis colorectal cancer (HNPCC), also known as Lynch syndrome.
Some of the polarity-related genes such as
STK11 (serine/threonine kinase 11, also known as LKB1) are known tumor suppressors and have been implicated in several cancers.
It uses 10 ng of DNA to analyze more than 2800 mutations across 50 known oncogenes and tumor suppressor genes including ABL1, AKT1, ALK, APC, ATM, BRAF, CDH1, CDKN2A, CSF1R, CTNNB1, EGFR, ERBB2, ERBB4, EZH2, FBXW7, FGFR1, FGFR2, FGFR3, FLT3, GNA11, GNAS, GNAQ, HNF1A, HRAS, IDH1, IDH2, JAK2, JAK3, KDR, KIT, KRAS, MET, MLH1, MPL, NOTCH1, NPM1, NRAS, PDGFRA, PIK3CA, PTEN, PTPN11, RB1, RET, SMAD4, SMARCB1, SMO, SRC,
STK11, TP53, and VHL.
