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Comparative Lesions Analysis Through a Targeted Sequencing Approach
Published on: November 5, 2019
MMAC1/PTEN mutations in primary tumor specimens and tumor cell lines
Cancer Research
|December 11, 1997
Summary
The MMAC1/PTEN gene, a tumor suppressor, shows alterations in various human cancers. Further investigation revealed inactivating mutations and deletions in diverse tumor types, supporting its role in cancer development.
Area of Science:
- Oncology
- Human Genetics
- Molecular Biology
Background:
- The MMAC1/PTEN gene, located at chromosome band 10q23, is a candidate tumor suppressor.
- Sequence alterations in MMAC1/PTEN have been observed in glioma, breast, prostate, and kidney tumors.
Purpose of the Study:
- To investigate the mutational profile of the MMAC1/PTEN gene in a wide range of human cancers.
- To identify allelic losses and sequence alterations at the 10q23 locus in tumor specimens and cell lines.
Main Methods:
- Screening of human tumor specimens and cancer cell lines for 10q23 allelic losses.
- Analysis of MMAC1/PTEN sequence alterations, including missense, splicing, and nonsense mutations.
- Detection of homozygous deletions in tumor cell lines.
Main Results:
- Loss of heterozygosity (LOH) at the MMAC1 locus was found in approximately 50% of examined samples.
- MMAC1 variants were detected in 10% of primary tumors with LOH, with higher frequency in glioblastoma (23%).
- Microsequence alterations (16%) and homozygous deletions (14%) of MMAC1 were identified in tumor cell lines.
Conclusions:
- Inactivating MMAC1/PTEN alterations occur in multiple human cancer types.
- The study identified novel MMAC1 alterations in melanoma and pediatric glioblastomas.
- A putative pseudogene of MMAC1 was discovered on chromosome 9.
