| _version_ |
1860799927133667328
|
| building |
INTELEK Repository
|
| collection |
Online Access
|
| collectionurl |
https://intelek.unisza.edu.my/intelek/pages/search.php?search=!collection407072
|
| date |
2012-06-10 11:55:28
|
| format |
Restricted Document
|
| id |
7950
|
| institution |
UniSZA
|
| internalnotes |
Breast Cancer Information Core (BIC), Retrieved June 15, 2010. http://research.nhgri.nih.gov/bic/ Claes, K., Poppe B., Coene., De Paepe A., &Messiaen L. (2004). BRCA1 and BRCA2 germline mutation spectrum and frequencies in Belgian breast/ovarian cancer families.British Journal of Cancer., 90, 1244 – 1251. Easton, D.F., Bishop D.T., Ford D. &Crockford G.P. (1993). Genetic linkage analysis in familial breast and ovarian cancer: results from 214 families. Am J Hum Genet., 52, 678– 701. Eun, H.L., Sue K.P., Boyoung P., Sung-Won K., Min H.L., Sei. H.A., Byung. H.S., Keun Y.Y. &Daehee K. (2010). Effect of BRCA1/2 mutation on short-term and long-term breast cancer survival: a systematic review and meta-analysis. Breast Cancer Res Treat., 122, 11–25 Ferlay, J., Bray F., Pisani P. &Parkin D.M. (2004). Cancer Incidence, Mortality and Prevalence Worldwide.IARC Cancer Base., 5(2.0) Lyon: IARC Press. Garvin, A.M. (1998). A complete protein truncation test for BRCA1 and BRCA2.European Journal of Human Genetics., 6, 226–234. Geisler, J.P., Hatterman-Zogg M.A., Rathe J.A., Lallas T.A., Kirby P., &Buller R.E. (2001). Ovarian Cancer BRCA1 Mutation Detection: Protein Truncation Test (PTT) Outperforms Single Strand Conformation Polymorphism Analysis (SSCP). Human Mutation.,18, 337- 344. Hogervorst,Frans B.L., Renée S. Cornelis, Mattie Bout, Margreethe van Vliet, Jan C. Oosterwijk, RenskeOlmer, Bert Bakker, Jan G.M. Klijn, Hans F.A. Vasen, Hanna MeijersHeijboer, Fred H. Menko, Cees J. Cornelisse, Johan T. den Dunnen, Peter Devilee, and Gert-Jan B. van Ommen. (1995).Rapid detection of BRCA1 mutations by the protein truncation test.Nature Genetics.,10, 208 – 212. Ikeda. N., Miyoshi Y., Yoneda K., Shiba E., Sekihara Y., Kinoshita M., Noguchi S. (2001). Frequency of BRCA1 and BRCA2 germline mutations in Japanese breast cancer families.,Int J Cancer 91, 83-88. Lalloo, F., Varley J., Moran A., Ellis D., O’Dair L., Pharoah P., Antoniou A., Hartley R., Shenton A., Seal S., Bulman B., Howell A. &Evans D.G.R. (2006). BRCA1, BRCA2 and TP53 mutations in very early-onset breast cancer with associated risks to relatives Eur J Cancer., 42(8), 1143-1150. Li, K.W., Pravin A.N. & Stewart S. (2008). Structure-guided Mutational Analysis of the OB, HhH, and BRCT Domains of Escherichia coli DNA Ligase. J Biol Chem., 283(34), 23343– 23352. Lim, G.C.C. &Halimah Y, (eds). (2004). Second Report of the National Cancer Registry.Cancer Incidence in Malaysia 2003.Kuala Lumpur.,National Cancer Registry., http://www.crc.gov.my/ncr. Miki, Y., Swensen J., Shattuck-Eidens D., Futreal PA., Harshman K., Tavtigian S., Liu Q., Cichran C., Bennett LM., Ding W., Bell R., Rosenthal J., Hussey C., Tran T., McClure M., Frye C., Hattier T., Phelps R., Haugen-Strano A., Katcher H., Yakumo K., Gholami Z., Shaffer D., Stone S., Bayer S., Wray C., Bogden R., Dayananth P., Ward J., Tonin P., Narod S., Bristow P.K., Norris F.H., Helvering L., Morrison P., Rosteck P., Lai M., Carl Barrett J., Lewis C., Neuhausen S., Cannon-Albright L., GoldgarD.,Wiseman R., Kamb A. & Skolnick M.H. (1994). A strong candidate for the breast and ovarian cancer susceptibility gene BRCA1.Science., 266, 66–71. Narod, S.A., Goldgar D., Cannon-Albright L., Weber B., Moslehi R., Ives E., Lenoir G. & Lynch H. (1995). Risk modifiers in carriers of BRCA1 mutations.Int J Cancer., 64, 394– 398. Powell, S.M., Petersen G.M., Krush A.J Booker S., Jen J., Giardiello F.M., Hamilton S.R.,Vogelstein B. &Kinzler K.W. (1993).Molecular diagnosis of familial adenomatous polyposis. N EnglJMed., 329(27), 1982–1987. Rob, B.VDL.,Frans B.L. Hogervorst, Johan T. Den Dunnen, P. Meera Khan, &Gert-Jan B. van Ommen.Laboratory protocols for mutation detection, (Oxford University Press, 1996), 140-153. Roest, P.A.M., Roberts R.G., Sugino S., Van-Ommen G.J.B.&Den-Dunnen J.T. (1993). Protein truncation test (PTT) for rapid detection of translation-terminating mutations. Hum MolGenet., 2(10), 1719–1721. Shattuck, E.D., McClure M., Simard J., Labrie F., Narod S., Couch F., Hoskins K.,Weber B., Castilla L., Erdos P., Brody L., Friedman L., Ostermeyer E., Szabo C., King M.C., Jhanwar S., Offit K. Norton L., Gilewski T., Lubin M., Osborne M., Black D., Boyd M., Steel M., Ingles S., Haile R., Lindblom A., Olsson H., Borg A., Bishop T., Solomon E., Radice P., Spatti G., Gayther S., Ponder B., Warren W., Stratton M., Liu Q., Fujimura F., Lewis C., Skolnick M.H. &Goldgar D.E. (1995). A collaborative survey of 80 mutations in the BRCA1 breast and ovarian cancer susceptibility gene: implications for presymptomatic testing and screening. JAMA., 273, 535- 541 Swensen, J, Hoffman M, Skolnick M.H. &Neuhausen S.L. (1997).Identification of a 14kb deletion involving the promoter region of BRCA1 in a breast cancer family.HumMolGenet., 6(9), 1513-1517. Therese, S., Tone I.A., Ida B. & Anne-Lise B.D. (1998). Mutation screening of BRCA1 using PTT and LOH analysis at 17q21 in breast carcinomas from familial and non-familial cases.Breast Cancer Research and Treatment., 48, 259–264. Thirthagiri, E., SY Lee., P Kang., DS Lee., GT Toh., S Selamat., S-Y Yoon., NA MohdTaib., MK Thong., CH Yip. & SH Teo.(2008). Evaluation of BRCA1 and BRCA2 mutations and risk-prediction models in a typical Asian country (Malaysia) with a relatively low incidence of breast cancer.Breast Cancer Research., 10, R59 Toh GT, Kang P, Lee SSW, Lee DS-C, Lee SY, et al. 2008BRCA1 and BRCA2 Germline Mutations in Malaysian Women with Early-Onset Breast Cancer without a Family History.PLoS ONE 3(4):e2024.doi:10.1371/journal.pone.0002024 Vahid, R.Y., Sirous Z., Iraj H., Soghra J., Mohammad A.M., David P.H. & Ann D. (2002). Novel mutations in the BRCA1 and BRCA2 genes in Iranian women with early-onset breast cancer. Breast Cancer Res., 4, R6 Zhang, X., Moréra S., Bates PA., Whitehead PC., Coffer AI., Hainbucher K., Nash RA., Sternberg MJE., Lindahl T. & Freemont PS. (1998). Structure of an XRCC1 BRCT domain: a new protein–protein interaction module. EMBO J 1998., 17, 6404-6411.
|
| originalfilename |
3752-01-FH02-FPSK-16-07656.pdf
|
| person |
Computer
|
| recordtype |
oai_dc
|
| resourceurl |
https://intelek.unisza.edu.my/intelek/pages/view.php?ref=7950
|
| spelling |
7950 https://intelek.unisza.edu.my/intelek/pages/view.php?ref=7950 https://intelek.unisza.edu.my/intelek/pages/search.php?search=!collection407072 Restricted Document Article Journal application/pdf 9 1.6 Adobe Acrobat Pro DC 20 Paper Capture Plug-in Computer 2012-06-10 11:55:28 3752-01-FH02-FPSK-16-07656.pdf UniSZA Private Access Translation Termination Mutations Analysis using the Protein Truncation Test on Exon11A of the BRCA1 Gene in Female Breast Cancer Patients of Pahang, Malaysia Journal of Advanced Medical Research Breast cancer is one of the commonest cancers in Malaysian females. Searching for a molecular link between breast cancer, early onset gene 1 (BRCA1) mutations and the development of early onset breast cancer has been of major interest over the past two decades. BRCA1 gene is located on chromosome 17 and known as a tumour suppressor gene maintaining genomic integrity to prevent uncontrolled proliferation of cells. Previous studies have found several translation termination mutations that led to the formation of truncated protein. The aim of this study was to investigate the presence of detectable germ-line translation termination mutations within nucleotide 790 until 1950 of the coding region of BRCA1 gene. Subsequently we aim to contribute any detected mutations to the Breast Cancer Information Core (BIC). Information regarding age and family history of breast or ovarian cancer were obtained from each patient and control. DNA extracted from the blood samples was screened for the presence of translation termination mutations in Exon 11 (segment A) of the BRCA1 gene by the Protein Truncation Test (PTT). The PTT analysis did not detect any truncations, which indicates that there were no translation termination mutations in the investigated BRCA1 gene segment. These findings were subsequently verified by DNA sequencing analysis. Hence, this study concludes that there were no translation termination mutations within the studied segment of the BRCA1 gene in the studied population. Therefore we suggest other studies regarding other segments of Exon 11 and other Exons of the BRCA1 gene in addition to other types of mutations for future studies. 2 2 61-69 Breast Cancer Information Core (BIC), Retrieved June 15, 2010. http://research.nhgri.nih.gov/bic/ Claes, K., Poppe B., Coene., De Paepe A., &Messiaen L. (2004). BRCA1 and BRCA2 germline mutation spectrum and frequencies in Belgian breast/ovarian cancer families.British Journal of Cancer., 90, 1244 – 1251. Easton, D.F., Bishop D.T., Ford D. &Crockford G.P. (1993). Genetic linkage analysis in familial breast and ovarian cancer: results from 214 families. Am J Hum Genet., 52, 678– 701. Eun, H.L., Sue K.P., Boyoung P., Sung-Won K., Min H.L., Sei. H.A., Byung. H.S., Keun Y.Y. &Daehee K. (2010). Effect of BRCA1/2 mutation on short-term and long-term breast cancer survival: a systematic review and meta-analysis. Breast Cancer Res Treat., 122, 11–25 Ferlay, J., Bray F., Pisani P. &Parkin D.M. (2004). Cancer Incidence, Mortality and Prevalence Worldwide.IARC Cancer Base., 5(2.0) Lyon: IARC Press. Garvin, A.M. (1998). A complete protein truncation test for BRCA1 and BRCA2.European Journal of Human Genetics., 6, 226–234. Geisler, J.P., Hatterman-Zogg M.A., Rathe J.A., Lallas T.A., Kirby P., &Buller R.E. (2001). Ovarian Cancer BRCA1 Mutation Detection: Protein Truncation Test (PTT) Outperforms Single Strand Conformation Polymorphism Analysis (SSCP). Human Mutation.,18, 337- 344. Hogervorst,Frans B.L., Renée S. Cornelis, Mattie Bout, Margreethe van Vliet, Jan C. Oosterwijk, RenskeOlmer, Bert Bakker, Jan G.M. Klijn, Hans F.A. Vasen, Hanna MeijersHeijboer, Fred H. Menko, Cees J. Cornelisse, Johan T. den Dunnen, Peter Devilee, and Gert-Jan B. van Ommen. (1995).Rapid detection of BRCA1 mutations by the protein truncation test.Nature Genetics.,10, 208 – 212. Ikeda. N., Miyoshi Y., Yoneda K., Shiba E., Sekihara Y., Kinoshita M., Noguchi S. (2001). Frequency of BRCA1 and BRCA2 germline mutations in Japanese breast cancer families.,Int J Cancer 91, 83-88. Lalloo, F., Varley J., Moran A., Ellis D., O’Dair L., Pharoah P., Antoniou A., Hartley R., Shenton A., Seal S., Bulman B., Howell A. &Evans D.G.R. (2006). BRCA1, BRCA2 and TP53 mutations in very early-onset breast cancer with associated risks to relatives Eur J Cancer., 42(8), 1143-1150. Li, K.W., Pravin A.N. & Stewart S. (2008). Structure-guided Mutational Analysis of the OB, HhH, and BRCT Domains of Escherichia coli DNA Ligase. J Biol Chem., 283(34), 23343– 23352. Lim, G.C.C. &Halimah Y, (eds). (2004). Second Report of the National Cancer Registry.Cancer Incidence in Malaysia 2003.Kuala Lumpur.,National Cancer Registry., http://www.crc.gov.my/ncr. Miki, Y., Swensen J., Shattuck-Eidens D., Futreal PA., Harshman K., Tavtigian S., Liu Q., Cichran C., Bennett LM., Ding W., Bell R., Rosenthal J., Hussey C., Tran T., McClure M., Frye C., Hattier T., Phelps R., Haugen-Strano A., Katcher H., Yakumo K., Gholami Z., Shaffer D., Stone S., Bayer S., Wray C., Bogden R., Dayananth P., Ward J., Tonin P., Narod S., Bristow P.K., Norris F.H., Helvering L., Morrison P., Rosteck P., Lai M., Carl Barrett J., Lewis C., Neuhausen S., Cannon-Albright L., GoldgarD.,Wiseman R., Kamb A. & Skolnick M.H. (1994). A strong candidate for the breast and ovarian cancer susceptibility gene BRCA1.Science., 266, 66–71. Narod, S.A., Goldgar D., Cannon-Albright L., Weber B., Moslehi R., Ives E., Lenoir G. & Lynch H. (1995). Risk modifiers in carriers of BRCA1 mutations.Int J Cancer., 64, 394– 398. Powell, S.M., Petersen G.M., Krush A.J Booker S., Jen J., Giardiello F.M., Hamilton S.R.,Vogelstein B. &Kinzler K.W. (1993).Molecular diagnosis of familial adenomatous polyposis. N EnglJMed., 329(27), 1982–1987. Rob, B.VDL.,Frans B.L. Hogervorst, Johan T. Den Dunnen, P. Meera Khan, &Gert-Jan B. van Ommen.Laboratory protocols for mutation detection, (Oxford University Press, 1996), 140-153. Roest, P.A.M., Roberts R.G., Sugino S., Van-Ommen G.J.B.&Den-Dunnen J.T. (1993). Protein truncation test (PTT) for rapid detection of translation-terminating mutations. Hum MolGenet., 2(10), 1719–1721. Shattuck, E.D., McClure M., Simard J., Labrie F., Narod S., Couch F., Hoskins K.,Weber B., Castilla L., Erdos P., Brody L., Friedman L., Ostermeyer E., Szabo C., King M.C., Jhanwar S., Offit K. Norton L., Gilewski T., Lubin M., Osborne M., Black D., Boyd M., Steel M., Ingles S., Haile R., Lindblom A., Olsson H., Borg A., Bishop T., Solomon E., Radice P., Spatti G., Gayther S., Ponder B., Warren W., Stratton M., Liu Q., Fujimura F., Lewis C., Skolnick M.H. &Goldgar D.E. (1995). A collaborative survey of 80 mutations in the BRCA1 breast and ovarian cancer susceptibility gene: implications for presymptomatic testing and screening. JAMA., 273, 535- 541 Swensen, J, Hoffman M, Skolnick M.H. &Neuhausen S.L. (1997).Identification of a 14kb deletion involving the promoter region of BRCA1 in a breast cancer family.HumMolGenet., 6(9), 1513-1517. Therese, S., Tone I.A., Ida B. & Anne-Lise B.D. (1998). Mutation screening of BRCA1 using PTT and LOH analysis at 17q21 in breast carcinomas from familial and non-familial cases.Breast Cancer Research and Treatment., 48, 259–264. Thirthagiri, E., SY Lee., P Kang., DS Lee., GT Toh., S Selamat., S-Y Yoon., NA MohdTaib., MK Thong., CH Yip. & SH Teo.(2008). Evaluation of BRCA1 and BRCA2 mutations and risk-prediction models in a typical Asian country (Malaysia) with a relatively low incidence of breast cancer.Breast Cancer Research., 10, R59 Toh GT, Kang P, Lee SSW, Lee DS-C, Lee SY, et al. 2008BRCA1 and BRCA2 Germline Mutations in Malaysian Women with Early-Onset Breast Cancer without a Family History.PLoS ONE 3(4):e2024.doi:10.1371/journal.pone.0002024 Vahid, R.Y., Sirous Z., Iraj H., Soghra J., Mohammad A.M., David P.H. & Ann D. (2002). Novel mutations in the BRCA1 and BRCA2 genes in Iranian women with early-onset breast cancer. Breast Cancer Res., 4, R6 Zhang, X., Moréra S., Bates PA., Whitehead PC., Coffer AI., Hainbucher K., Nash RA., Sternberg MJE., Lindahl T. & Freemont PS. (1998). Structure of an XRCC1 BRCT domain: a new protein–protein interaction module. EMBO J 1998., 17, 6404-6411.
|
| spellingShingle |
Translation Termination Mutations Analysis using the Protein Truncation Test on Exon11A of the BRCA1 Gene in Female Breast Cancer Patients of Pahang, Malaysia
|
| summary |
Breast cancer is one of the commonest cancers in Malaysian females. Searching for a molecular link between breast cancer, early onset gene 1 (BRCA1) mutations and the development of early onset breast cancer has been of major interest over the past two decades. BRCA1 gene is located on chromosome 17 and known as a tumour suppressor gene maintaining genomic integrity to prevent uncontrolled proliferation of cells. Previous studies have found several translation termination mutations that led to the formation of truncated protein. The aim of this study was to investigate the presence of detectable germ-line translation termination mutations within nucleotide 790 until 1950 of the coding region of BRCA1 gene. Subsequently we aim to contribute any detected mutations to the Breast Cancer Information Core (BIC). Information regarding age and family history of breast or ovarian cancer were obtained from each patient and control. DNA extracted from the blood samples was screened for the presence of translation termination mutations in Exon 11 (segment A) of the BRCA1 gene by the Protein Truncation Test (PTT). The PTT analysis did not detect any truncations, which indicates that there were no translation termination mutations in the investigated BRCA1 gene segment. These findings were subsequently verified by DNA sequencing analysis. Hence, this study concludes that there were no translation termination mutations within the studied segment of the BRCA1 gene in the studied population. Therefore we suggest other studies regarding other segments of Exon 11 and other Exons of the BRCA1 gene in addition to other types of mutations for future studies.
|
| title |
Translation Termination Mutations Analysis using the Protein Truncation Test on Exon11A of the BRCA1 Gene in Female Breast Cancer Patients of Pahang, Malaysia
|
| title_full |
Translation Termination Mutations Analysis using the Protein Truncation Test on Exon11A of the BRCA1 Gene in Female Breast Cancer Patients of Pahang, Malaysia
|
| title_fullStr |
Translation Termination Mutations Analysis using the Protein Truncation Test on Exon11A of the BRCA1 Gene in Female Breast Cancer Patients of Pahang, Malaysia
|
| title_full_unstemmed |
Translation Termination Mutations Analysis using the Protein Truncation Test on Exon11A of the BRCA1 Gene in Female Breast Cancer Patients of Pahang, Malaysia
|
| title_short |
Translation Termination Mutations Analysis using the Protein Truncation Test on Exon11A of the BRCA1 Gene in Female Breast Cancer Patients of Pahang, Malaysia
|
| title_sort |
translation termination mutations analysis using the protein truncation test on exon11a of the brca1 gene in female breast cancer patients of pahang, malaysia
|