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RISS 인기검색어
- 검색키워드
- 저자 : Ashis Mukhopadhyay (검색결과 3 건)
- 무료
- 기관 내 무료
- 유료
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Absence of 185delAG and 6174delT Mutations among Breast Cancer Patients of Eastern India
Chakraborty, Abhijit,Banerjee, Debolina,Basak, Jayasri,Mukhopadhyay, Ashis Asian Pacific Journal of Cancer Prevention 2015 Asian Pacific journal of cancer prevention Vol.16 No.17
Background: The incidence of breast cancer in India is on the rise and is rapidly becoming the number one cancer in females, pushing the cervical cancer to the second position. Most of the predisposition to hereditary breast and ovarian cancer has been attributed to inherited defects in two tumor suppressor genes BRCA1 and BRCA2. Alterations in these genes have been reported in different populations, some of which are population-specific mutations showing founder effects. Two specific mutations in the BRCA1 (185delAG) and BRCA2 (6174delT) genes have been reported to be of high prevalence in different populations. The aim of this study was to estimate the carrier frequency of 185delAG and 6174delT mutations in eastern Indian breast cancer patients. Materials and Methods: We selected 231 histologically confirmed breast cancer patients from our tertiary cancer care center in eastern India. Family history was obtained by interview or a self-reported questionnaire. The presence of the mutation was investigated by allele specific duplex/multiplex-PCR on genomic DNA extracted from peripheral blood. Results: A total of 231 patients (age range: 26-77 years), 130 with a family history and 101 without were screened. The two founder mutations 185delAG in BRCA1 and 6174delT in BRCA2 were not found in any of the subjects. This was confirmed by molecular analysis. Conclusions: Our findings suggest that these BRCA mutations may not have a strong recurrent effect on breast cancer among the eastern Indian population. The contribution of these founder mutations to breast cancer incidence is probably low and could be limited to specific subgroups. This may be particularly useful in establishing further pre-screening strategies.
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Swati Dasgupta,Ujjal K Ray,Arpita Ghosh Mitra,Deboshree M. Bhattacharyya,Ashis Mukhopadhyay,Priyabrata Das,Sudeshna Gangopadhyay,Sudip Roy,Soma Mukhopadhyay 대한혈액학회 2017 Blood Research Vol.51 No.2
Background: Philadelphia chromosome, a hallmark of chronic myeloid leukemia (CML), plays a key role in disease pathogenesis. It reflects a balanced reciprocal translocation between long arms of chromosomes 9 and 22 involving BCR and ABL1 genes, respectively. An accurate and reliable detection of BCR-ABL fusion gene is necessary for the diagnosis and monitor-ing of CML. Previously, many technologies, most of which are laborious and time consum-ing, have been developed to detect BCR-ABL chimeric gene or chromosome. Methods: A new flow cytometric immunobead assay was used for detection of BCR-ABL fusion pro-teins and applicability, sensitivity, reliability, efficacy and rapidity of this method was evaluated. Results: From February 2009 to January 2014, a total 648 CML patients were investigated for the status of BCR-ABL1 protein. Among them, 83 patients were enrolled for comparative study of BCR-ABL1 positivity by three routinely used procedures like karyotyping, and quantita-tive real time PCR (RT-PCR) as well as immunobead flow cytometry assay. BCR-ABL protein analysis was found consistent, more sensitive (17% greater sensitivity) and reliable than the conventional cytogenetics, as flow cytometry showed 95% concordance rate to RT-PCR. Conclusion: BCR-ABL fusion protein assay using a new flow cytometric immunobead might be useful in the diagnosis and monitoring CML patients.
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Swati Dasgupta,Ujjal K Ray,Arpita Ghosh Mitra,Deboshree M. Bhattacharyya,Ashis Mukhopadhyay,Priyabrata Das,Sudeshna Gangopadhyay,Sudip Roy,Soma Mukhopadhyay 대한혈액학회 2017 Blood Research Vol.52 No.2
Background: Philadelphia chromosome, a hallmark of chronic myeloid leukemia (CML), plays a key role in disease pathogenesis. It reflects a balanced reciprocal translocation between long arms of chromosomes 9 and 22 involving BCR and ABL1 genes, respectively. An accurate and reliable detection of BCR-ABL fusion gene is necessary for the diagnosis and monitor-ing of CML. Previously, many technologies, most of which are laborious and time consum-ing, have been developed to detect BCR-ABL chimeric gene or chromosome. Methods: A new flow cytometric immunobead assay was used for detection of BCR-ABL fusion pro-teins and applicability, sensitivity, reliability, efficacy and rapidity of this method was evaluated. Results: From February 2009 to January 2014, a total 648 CML patients were investigated for the status of BCR-ABL1 protein. Among them, 83 patients were enrolled for comparative study of BCR-ABL1 positivity by three routinely used procedures like karyotyping, and quantita-tive real time PCR (RT-PCR) as well as immunobead flow cytometry assay. BCR-ABL protein analysis was found consistent, more sensitive (17% greater sensitivity) and reliable than the conventional cytogenetics, as flow cytometry showed 95% concordance rate to RT-PCR. Conclusion: BCR-ABL fusion protein assay using a new flow cytometric immunobead might be useful in the diagnosis and monitoring CML patients.
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