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Somatic mutations of BECN1, an autophagy-related gene, in human cancers

Jong Woo Lee1, Eun Goo Jeong, Sung Hak Lee

  • 1Department of Pathology, College of Medicine, The Catholic University of Korea, Seoul, Korea.

APMIS : Acta Pathologica, Microbiologica, Et Immunologica Scandinavica
|June 7, 2007
PubMed

Insights

Cancer cells evade programmed cell death (PCD), including autophagy regulated by BECN1. This study investigated BECN1 gene mutations in various human cancers, finding them to be rare and likely not a major driver of cancer development.

Area of Science:

  • Oncology
  • Molecular Biology
  • Genetics

Background:

  • Evasion of programmed cell death (PCD) is a hallmark of cancer.
  • Autophagy is a key mechanism of PCD, regulated by BECN1 protein.
  • The BECN1 gene is a haploinsufficient tumor suppressor, but its mutation status in human cancers is largely unknown.

Purpose of the Study:

  • To investigate the frequency and potential role of somatic mutations in the BECN1 gene in human cancer development.
  • To analyze the BECN1 gene for mutations across a spectrum of common human malignancies.

Main Methods:

  • Analysis of the entire coding region and splice sites of the BECN1 gene.
  • Utilized single-strand conformation polymorphism (SSCP) and DNA sequencing.
  • Mutations were screened in 180 gastric, 94 breast, 50 acute leukemia, 50 colorectal, 50 hepatocellular, and 124 non-small cell lung cancers.

Main Results:

  • Eleven somatic mutations in the BECN1 gene were detected across gastric, colorectal, lung, and breast carcinomas.
  • Three missense mutations (N8K, P350R, R389C) were identified in coding sequences.
  • Functional analysis showed two mutations (P350R, R389C) had only slightly reduced cell death activity compared to wild-type BECN1.

Conclusions:

  • This is the first report of BECN1 gene mutations in human cancer tissues.
  • Somatic point mutations in BECN1 appear to be rare events in common human cancers.
  • BECN1 mutations likely do not play a significant role in the pathogenesis of most human cancers.

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