title: Rare somatic mutation of pro-apoptotic BAX and BAK genes in common human cancers.
abstract: OBJECTIVE
  BAX and BAK are both pro-apoptotic Bcl-2 proteins and are essential for the pathway of intrinsic apoptosis. Apoptosis in cancer cells is frequently inactivated by somatic mutations. The aim of the study was to see whether somatic mutations of BAX and BAK genes are characteristics of common human cancers.
  
  
  METHODS
  We analyzed somatic mutation of BAX and BAK genes in 47 gastric, 47 colorectal, 47 breast, 47 lung and 47 prostate carcinomas, and 47 acute leukemias by a polymerase chain reaction and single-strand conformation polymorphism assay.
  
  
  RESULTS
  We identified BAX gene mutations in one colon (2.1%) and three gastric (6.4%) cancers. All of the mutations were frameshift mutations in the G8 repeat sequences and were detected in cancers with high microsatellite instability (36.4%). There was no evidence of BAX mutation in the other cancers, nor was somatic mutation of the BAK gene detected in the cancers.
  
  
  CONCLUSIONS
  Our data indicate that somatic mutation of BAX and BAK genes are rare in the common cancers (besides the cancers with high microsatellite instability) and suggest that neither BAX nor BAK mutation may causally be implicated in their tumorigenesis.
authors: Department of Pathology, College of Medicine, The Catholic University of Korea, 505 Banpo-dong, Socho-gu, Seoul, Korea.
authors: Min Sung
authors: MS
authors: Kim
authors: Sung Soo
authors: SS
authors: Kim
authors: Nam Jin
authors: NJ
authors: Yoo
authors: Sug Hyung
authors: SH
authors: Lee
mesh_terms: D017209:Apoptosis / Q000235:genetics*; D001943:Breast Neoplasms / Q000235:genetics; D015179:Colorectal Neoplasms / Q000235:genetics; D024202:Electrophoretic Mobility Shift Assay; D005260:Female; D016368:Frameshift Mutation; D006801:Humans; D015470:Leukemia, Myeloid, Acute / Q000235:genetics; D008175:Lung Neoplasms / Q000235:genetics; D008297:Male; D053842:Microsatellite Instability; D009369:Neoplasms / Q000235:genetics*; D016133:Polymerase Chain Reaction; D018807:Polymorphism, Single-Stranded Conformational; D054198:Precursor Cell Lymphoblastic Leukemia-Lymphoma / Q000235:genetics; D011471:Prostatic Neoplasms / Q000235:genetics; D017422:Sequence Analysis, DNA; D013274:Stomach Neoplasms / Q000235:genetics; D050998:bcl-2 Homologous Antagonist-Killer Protein / Q000235:genetics*; D051028:bcl-2-Associated X Protein / Q000235:genetics*
chemical_list: C494772:BAK1 protein, human; C494826:BAX protein, human; D050998:bcl-2 Homologous Antagonist-Killer Protein; D051028:bcl-2-Associated X Protein