A novel BRCA1 mutation in an Indian family with hereditary breast/ovarian cancer

被引:0
作者
P. Gajalakshmi
Thanemozhi G. Natarajan
Deepa Selvi Rani
K. Thangaraj
机构
[1] Anna University,Lifesciences Division, AU
[2] Georgetown University Medical Center,KBC Research Centre
[3] Centre for Cellular and Molecular Biology,Department of Oncology, Lombardi Comprehensive Cancer Center
来源
Breast Cancer Research and Treatment | 2007年 / 101卷
关键词
BRCA1; Screening; Breast cancer; India; Novel; Mutation;
D O I
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学科分类号
摘要
Germ-line mutations in BRCA1 gene contribute to a majority of familial breast and ovarian cancers. A group of 23 Tamil Nadu (south India) patients with positive family history for breast and ovarian cancer were screened for BRCA1 mutations by conformation sensitive gel electrophoresis (CSGE) followed by sequencing. In the present study, we report a novel 1307delT mutation in exon 11 of BRCA1 gene in a 43-year-old woman of Indian origin with breast cancer. This mutation gives rise to a premature stop codon at amino acid residue 409 and also creates a novel DdeI restriction site. The same mutation was also detected in the patient’s maternal uncle and his son through extended family analysis. The 1307delT is a novel mutation that has not been documented in any population or published report to the best of our knowledge. Identification of this novel mutation stresses the need for developing a database of BRCA1 mutations, which will aid in breast cancer screening in this population.
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页码:3 / 6
页数:3
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