Abstract: Disclosed are screening methods and sequences related thereto. Disclosed are methods for detecting mutations in the MYH gene of an individual. Also disclosed are methods of genotyping and methods of predicting for an individual the likelihood of developing certain cancers, such as colorectal cancer.

Abstract: A screening method for identifying an individual having a pre-disposition towards having a cancer is disclosed, which screening method comprises the steps of: (a) obtaining a test sample comprising a nucleotide sequence comprised in the MYH gene of the individual or an amino acid sequence of a polypeptide expressed thereby; and (b) comparing a region of the test sample sequence with the corresponding region of the wild type sequence, whereby a difference between the test sample sequence and the wild type sequence signifies that the individual is pre-disposed to having the cancer; and wherein the difference comprises a specified variation.

Abstract: Disclosed are screening methods and sequences related thereto. Disclosed are methods for detecting mutations in the MYH gene of an individual. Also disclosed are methods of genotyping and methods of predicting for an individual the likelihood of developing certain cancers, such as colorectal cancer.

Abstract: Disclosed are screening methods and sequences related thereto. Disclosed are methods for detecting mutations in the MYH gene of an individual. Also disclosed are methods of genotyping and methods of predicting for an individual the likelihood of developing certain cancers, such as colorectal cancer.

Abstract: A screening method for identifying an individual having a pre-disposition towards having a cancer is disclosed, which screening method comprises the steps of: (a) obtaining a test sample comprising a nucleotide sequence comprised in a gene in a base excision repair (BER) pathway of the individual or an amino acid sequence of a polypeptide expressed thereby; and (b) comparing a region of the test sample sequence with the corresponding region of the wild type sequence, whereby a difference between the test sample sequence and the wild type sequence signifies that the individual is pre-disposed to having the cancer; and wherein the difference comprises a specified variation. The specified variation can be the known mutation in the human MYH protein, G382D-hMYH or a nucleotide sequence encoding it, or it can be one or more novel variations, namely, Y165C, E466X, and Y90X, or the respective corresponding nucleotide sequences.

Abstract: A screening method for identifying an individual having a pre-disposition towards having a cancer is disclosed, which screening method comprises the steps of: (a) obtaining a test sample comprising a nucleotide sequence comprised in the MYH gene of the individual or an amino acid sequence of a polypeptide expressed thereby; and (b) comparing a region of the test sample sequence with the corresponding region of the wild type sequence, whereby a difference between the test sample sequence and the wild type sequence signifies that the individual is pre-disposed to having the cancer; and wherein the difference comprises a specified variation.

Abstract: A screening method for identifying an individual having a pre-disposition towards having a cancer is disclosed, which screening method comprises the steps of: (a) obtaining a test sample comprising a nucleotide sequence comprised in a gene in a base excision repair (BER) pathway of the individual or an amino acid sequence of a polypeptide expressed thereby; and (b) comparing a region of the test sample sequence with the corresponding region of the wild type sequence, whereby a difference between the test sample sequence and the wild type sequence signifies that the individual is pre-disposed to having the cancer; and wherein the difference comprises a specified variation. The specified variation can be the known mutation in the human MYH protein, G382D-hMYH or a nucleotide sequence encoding it, or it can be one or more novel variations, namely, Y165C, E466X, and Y90X, or the respective corresponding nucleotide sequences.

Abstract: A screening method for identifying an individual having a pre-disposition towards having a cancer is disclosed, which screening method comprises the steps of: (a) obtaining a test sample comprising a nucleotide sequence comprised in a gene in a gene in a base excision repair (BER) pathway of the individual or an amino acid sequence of a polypeptide expressed thereby; and (b) comparing a region of the test sample sequence with the corresponding region of the wild type sequence, whereby a difference between the test sample sequence and the wild type sequence signifies that the individual is pre-disposed to having the cancer; and wherein the difference comprises a specified variation. The specified variation can be the known mutation in the human MYH protein, G382D-hMYH or a nucleotide sequence encoding it, or it can be one or more novel variations, namely, Y165C, E466X, and Y90X, or the respective corresponding nucleotide sequences.

Abstract: A screening method for identifying an individual having a pre-disposition towards having a cancer is disclosed, which screening method comprises the steps of: (a) obtaining a test sample comprising a nucleotide sequence comprised in the MYH gene of the individual or an amino acid sequence of a polypeptide expressed thereby; and (b) comparing a region of the test sample sequence with the corresponding region of the wild type sequence, whereby a difference between the test sample sequence and the wild type sequence signifies that the individual is pre-disposed to having the cancer; and wherein the difference comprises a specified variation.

Abstract: The present invention is directed to a tumor suppressor protein which has been designated hamartin and to the gene, TSC1, which encodes this protein. Mutations in the gene have been found to be associated with certain types of tuberous sclerosis and this has served as a basis for a diagnostic method designed to identify patients that have, or are likely to develop, symptoms associated with this disease. The introduction of the TSC1 gene and subsequent expression of hamartin into cells may be used as a means for treating tuberous sclerosis and other conditions characterized by abnormal cellular growth.

Abstract: The present invention is directed to a tumor suppressor protein which has been designated hamartin and to the gene, TSC1, which encodes this protein. Mutations in the gene have been found to be associated with certain types of tuberous sclerosis and this has served as a basis for a diagnostic method designed to identify patients that have, or are likely to develop, symptoms associated with this disease. The introduction of the TSC1 gene and subsequent expression of hamartin into cells may be used as a means for treating tuberous sclerosis and other conditions characterized by abnormal cellular growth.

Abstract: The present invention is directed to a tumor suppressor protein which has been designated hamartin and to the gene, TSC1, which encodes this protein. Mutations in the gene have been found to be associated with certain types of tuberous sclerosis and this has served as a basis for a diagnostic method designed to identify patients that have, or are likely to develop, symptoms associated with this disease. The introduction of the TSC1 gene and subsequent expression of hamartin into cells may be used as a means for treating tuberous sclerosis and other conditions characterized by abnormal cellular growth.

Abstract: Tuberous sclerosis (TSC) is an autosomal dominant disorder characterised by widespread development of growths in many tissues and organs. A gene (TSC2) is identified on chromosome 16 which is mutated in TSC and which may behave as a tumour suppressor. Screening of actual or suspected TSC patients for normal or mutated TSC2 can be used for diagnostic purposes. TSC2 protein (tuberin) may be used to treat or prevent unrestrained cell division and/or tumour development in patients with or without TSC.

Abstract: Tuberous sclerosis (TSC) is an autosomal dominant disorder characterised by widespread development of growths in many tissues and organs. A gene (TSC2) is identified on chromosome 16 which is mutated in TSC and which may behave as a tumour suppressor. Screening of actual or suspected TSC patients for normal or mutated TSC2 can be used for diagnostic purposes. TSC2 protein (tuberin) may be used to treat or prevent unrestrained cell division and/or tumour development in patients with or without TSC.