BIOMAT Database Logo BIOMAT Database Logo

Infrequent mutations in the PTEN/MMAC1 gene among primary breast cancers. 1998

K Ueda, and M Nishijima, and H Inui, and M Watatani, and E Yayoi, and J Okamura, and M Yasutomi, and Y Nakamura, and Y Miyoshi
Department of Medical Genetics, Biomedical Research Center, Osaka University Medical School, Suita.

Recently PTEN/MMAC1, a candidate tumor suppressor gene, was isolated from chromosome 10q23-24 and somatic mutations of this gene were detected in several malignancies including brain, prostate, and breast tumors. To investigate further the potential role of this gene in mammary carcinogenesis, we examined 69 primary breast cancers for mutations in PTEN/MMAC1 by means of polymerase chain reaction single-strand conformation polymorphism and sequencing analysis. We detected only one somatic missense mutation, a change from T to C at codon 59 (TCA to CCA) resulting in substitution of Pro for Ser in the predicted protein. This site is located outside of phosphatase or phosphate-acceptor motifs, but this codon encodes a residue that is conserved in homologous proteins, tensin and auxilin and is likely to be crucial for normal function of PTEN/MMAC1. Among the 69 tumors examined, three low-frequency polymorphisms were found as well, one in the non-coding region of exon 1 and one each in introns 2 and 7. Our results suggested that mutation of the PTEN/MMAC1 gene is not a major factor in the development of most primary breast cancers.

UI MeSH Term Description Entries
D008875 Middle Aged An adult aged 45 - 64 years. Middle Age
D010744 Phosphoric Monoester Hydrolases A group of hydrolases which catalyze the hydrolysis of monophosphoric esters with the production of one mole of orthophosphate. Phosphatase,Phosphatases,Phosphohydrolase,Phosphohydrolases,Phosphomonoesterase,Phosphomonoesterases,Phosphoric Monoester Hydrolase,Hydrolase, Phosphoric Monoester,Hydrolases, Phosphoric Monoester,Monoester Hydrolase, Phosphoric
D001943 Breast Neoplasms Tumors or cancer of the human BREAST. Breast Cancer,Breast Tumors,Cancer of Breast,Breast Carcinoma,Cancer of the Breast,Human Mammary Carcinoma,Malignant Neoplasm of Breast,Malignant Tumor of Breast,Mammary Cancer,Mammary Carcinoma, Human,Mammary Neoplasm, Human,Mammary Neoplasms, Human,Neoplasms, Breast,Tumors, Breast,Breast Carcinomas,Breast Malignant Neoplasm,Breast Malignant Neoplasms,Breast Malignant Tumor,Breast Malignant Tumors,Breast Neoplasm,Breast Tumor,Cancer, Breast,Cancer, Mammary,Cancers, Mammary,Carcinoma, Breast,Carcinoma, Human Mammary,Carcinomas, Breast,Carcinomas, Human Mammary,Human Mammary Carcinomas,Human Mammary Neoplasm,Human Mammary Neoplasms,Mammary Cancers,Mammary Carcinomas, Human,Neoplasm, Breast,Neoplasm, Human Mammary,Neoplasms, Human Mammary,Tumor, Breast
D006801 Humans Members of the species Homo sapiens. Homo sapiens,Man (Taxonomy),Human,Man, Modern,Modern Man
D000328 Adult A person having attained full growth or maturity. Adults are of 19 through 44 years of age. For a person between 19 and 24 years of age, YOUNG ADULT is available. Adults
D000368 Aged A person 65 years of age or older. For a person older than 79 years, AGED, 80 AND OVER is available. Elderly
D000369 Aged, 80 and over Persons 80 years of age and older. Oldest Old
D016133 Polymerase Chain Reaction In vitro method for producing large amounts of specific DNA or RNA fragments of defined length and sequence from small amounts of short oligonucleotide flanking sequences (primers). The essential steps include thermal denaturation of the double-stranded target molecules, annealing of the primers to their complementary sequences, and extension of the annealed primers by enzymatic synthesis with DNA polymerase. The reaction is efficient, specific, and extremely sensitive. Uses for the reaction include disease diagnosis, detection of difficult-to-isolate pathogens, mutation analysis, genetic testing, DNA sequencing, and analyzing evolutionary relationships. Anchored PCR,Inverse PCR,Nested PCR,PCR,Anchored Polymerase Chain Reaction,Inverse Polymerase Chain Reaction,Nested Polymerase Chain Reaction,PCR, Anchored,PCR, Inverse,PCR, Nested,Polymerase Chain Reactions,Reaction, Polymerase Chain,Reactions, Polymerase Chain
D017027 Protein Tyrosine Phosphatases An enzyme group that specifically dephosphorylates phosphotyrosyl residues in selected proteins. Together with PROTEIN-TYROSINE KINASE, it regulates tyrosine phosphorylation and dephosphorylation in cellular signal transduction and may play a role in cell growth control and carcinogenesis. Phosphotyrosine Phosphatase,Protein-Tyrosine-Phosphatase,Tyrosyl Phosphoprotein Phosphatase,PTPase,Phosphotyrosyl Protein Phosphatase,Protein-Tyrosine Phosphatase,Phosphatase, Phosphotyrosine,Phosphatase, Phosphotyrosyl Protein,Phosphatase, Protein-Tyrosine,Phosphatase, Tyrosyl Phosphoprotein,Phosphatases, Protein Tyrosine,Phosphoprotein Phosphatase, Tyrosyl,Protein Phosphatase, Phosphotyrosyl,Protein Tyrosine Phosphatase,Tyrosine Phosphatases, Protein
D017354 Point Mutation A mutation caused by the substitution of one nucleotide for another. This results in the DNA molecule having a change in a single base pair. Mutation, Point,Mutations, Point,Point Mutations

Related Publications

K Ueda, and M Nishijima, and H Inui, and M Watatani, and E Yayoi, and J Okamura, and M Yasutomi, and Y Nakamura, and Y Miyoshi
PTEN/MMAC1 mutations in endometrial cancers.
November 1997, Cancer research,
K Ueda, and M Nishijima, and H Inui, and M Watatani, and E Yayoi, and J Okamura, and M Yasutomi, and Y Nakamura, and Y Miyoshi
Mutations of PTEN/MMAC1 in primary prostate cancers from Chinese patients.
February 2001, Clinical cancer research : an official journal of the American Association for Cancer Research,
K Ueda, and M Nishijima, and H Inui, and M Watatani, and E Yayoi, and J Okamura, and M Yasutomi, and Y Nakamura, and Y Miyoshi
Infrequent genetic alterations of the PTEN/MMAC1 gene in Japanese patients with primary cancers of the breast, lung, pancreas, kidney, and ovary.
November 1997, Japanese journal of cancer research : Gann,
K Ueda, and M Nishijima, and H Inui, and M Watatani, and E Yayoi, and J Okamura, and M Yasutomi, and Y Nakamura, and Y Miyoshi
PTEN/MMAC1/TEP1 involvement in primary prostate cancers.
June 1998, Oncogene,
K Ueda, and M Nishijima, and H Inui, and M Watatani, and E Yayoi, and J Okamura, and M Yasutomi, and Y Nakamura, and Y Miyoshi
Colorectal carcinomas and PTEN/MMAC1 gene mutations.
December 2001, Clinical cancer research : an official journal of the American Association for Cancer Research,
K Ueda, and M Nishijima, and H Inui, and M Watatani, and E Yayoi, and J Okamura, and M Yasutomi, and Y Nakamura, and Y Miyoshi
Somatic mutation of the PTEN/MMAC1 gene in breast cancers with microsatellite instability.
September 1999, Cancer letters,
K Ueda, and M Nishijima, and H Inui, and M Watatani, and E Yayoi, and J Okamura, and M Yasutomi, and Y Nakamura, and Y Miyoshi
Inactivation of the PTEN/MMAC1/TEP1 gene in human lung cancers.
June 1998, Genes, chromosomes & cancer,
K Ueda, and M Nishijima, and H Inui, and M Watatani, and E Yayoi, and J Okamura, and M Yasutomi, and Y Nakamura, and Y Miyoshi
PTEN/MMAC1 mutations in hepatocellular carcinomas.
May 1999, Oncogene,
K Ueda, and M Nishijima, and H Inui, and M Watatani, and E Yayoi, and J Okamura, and M Yasutomi, and Y Nakamura, and Y Miyoshi
PTEN/MMAC1 mutations in prostate cancer.
December 2000, Prostate cancer and prostatic diseases,
K Ueda, and M Nishijima, and H Inui, and M Watatani, and E Yayoi, and J Okamura, and M Yasutomi, and Y Nakamura, and Y Miyoshi
Mutation analysis of the putative tumor suppressor gene PTEN/MMAC1 in primary breast carcinomas.
September 1997, Cancer research,
Copied contents to your clipboard!