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Novel germline mutations in the BRCA1 and BRCA2 genes in Indian breast and breast‐ovarian cancer families
Novel germline mutations in the BRCA1 and BRCA2 genes in Indian breast and breast‐ovarian cancer families
- Source :
- Human Mutation. 23:205-205
- Publication Year :
- 2004
- Publisher :
- Hindawi Limited, 2004.
-
Abstract
- The two major hereditary breast/ovarian cancer predisposition tumor suppressor genes, BRCA1 and BRCA2 that perform apparently generic cellular functions nonetheless cause tissue-specific syndromes in the human population when they are altered, or mutated in the germline. However, little is known about the contribution of BRCA1 and BRCA2 mutations to breast and/or ovarian cancers in the Indian population. We have screened for mutations the entire BRCA1 and BRCA2 coding sequences, and intron-exon boundaries, as well as their flanking intronic regions in sixteen breast or breast and ovarian cancer families of Indian origin. We have also analyzed 20 female patients with sporadic breast cancer regardless of age and family history, and 69 unrelated normal individuals as control. Thus a total of 154 samples were screened for BRCA1 and BRCA2 mutations using a combination of polymerase chain reaction-mediated site directed mutagenesis (PSM), polymerase chain reaction-single stranded conformation polymorphism assay (PCR-SSCP) and direct DNA sequencing of PCR products (DS). Twenty-one sequence variants including fifteen point mutations were identified. Five deleterious pathogenic, protein truncating frameshift and non-sense mutations were detected in exon 2 (c.187_188delAG); and exon 11 (c.3672G>T) [p.Glu1185X] of BRCA1 and in exon 11 (c.5227dupT, c.5242dupT, c.6180dupA) of BRCA2 (putative mutations - four novel) as well as fourteen amino acid substitutions were identified. Twelve BRCA1 and BRCA2 missense variants were identified as unique and novel. In the cohort of 20 sporadic female patients no mutations were found.
- Subjects :
- Adult
endocrine system diseases
Genes, BRCA2
Population
Genes, BRCA1
India
Breast Neoplasms
Biology
Germline
Frameshift mutation
Exon
Breast cancer
Germline mutation
Genetics
medicine
Humans
Missense mutation
Genetic Testing
Frameshift Mutation
skin and connective tissue diseases
education
Germ-Line Mutation
Genetics (clinical)
Aged
BRCA2 Protein
Ovarian Neoplasms
education.field_of_study
BRCA1 Protein
Point mutation
Middle Aged
medicine.disease
Alternative Splicing
Codon, Nonsense
Cancer research
Female
Subjects
Details
- ISSN :
- 10981004 and 10597794
- Volume :
- 23
- Database :
- OpenAIRE
- Journal :
- Human Mutation
- Accession number :
- edsair.doi.dedup.....27e8c99fbaabb6d395f3f14ce96708af
- Full Text :
- https://doi.org/10.1002/humu.9213