Detection of a novel mutation in exon 20 of the BRCA1 gene

• Autorzy: Chakraborty A , Katarkar A. , Chaudchuri K. , Mukhopadhyay A. , Basak J.
• Języki publikacji: EN

Abstrakty

EN

Hereditary breast cancer constitutes 5–10% of all breast cancer cases. Inherited mutations in the BRCA1 and BRCA2 tumor-suppressor genes account for the majority of hereditary breast cancer cases. The BRCA1 C-terminal region (BRCT) has a functional duplicated globular domain, which helps with DNA damage repair and cell cycle checkpoint protein control. More than 100 distinct BRCA1 missense variants with structural and functional effects have been documented within the BRCT domain. Interpreting the results of mutation screening of tumor-suppressor genes that can have high-risk susceptibility mutations is increasingly important in clinical practice. This study includes a novel mutation, p.His1746 Pro (c.5237A>C), which was found in BRCA1 exon 20 of a breast cancer patient. In silico analysis suggests that this mutation could alter the stability and orientation of the BRCT domain and the differential binding of the BACH1 substrate.

• Wydawca: -
• Czasopismo: Cellular and Molecular Biology Letters
• Rocznik: 2013
• Tom: 18
• Numer: 4
• Opis fizyczny: p.631-638,ref.

Twórcy

autor

Chakraborty A

• Department of Molecular Biology, Netaji Subhas Chandra Bose Cancer Research Institute (NCRI), Kolkata, India

autor

Katarkar A.

• Molecular & Human Genetics Division, Indian Institute of Chemical Biology (IICB), Kolkata, India

autor

Chaudchuri K.

• Molecular & Human Genetics Division, Indian Institute of Chemical Biology (IICB), Kolkata, India

autor

Mukhopadhyay A.

• Department of Oncology, Netaji Subhas Chandra Bose Cancer Research Institute (NCRI), Kolkata, India

autor

Basak J.

• Department of Molecular Biology, Netaji Subhas Chandra Bose Cancer Research Institute (NCRI), Kolkata, India

Bibliografia

• 1. Gajalakshmi, C.K., Shanta, V., Swaminathan, R., Sankaranarayanan, R. and Black, R.J. A population-based survival study on female breast cancer in Madras, India. Br. J. Cancer 75 (1997) 771-775.
• 2. Pestonjamasp, P.H. and Mittra, I. Analysis of BRCA1 involvement in breast cancer in Indian women. J. Biosci. 25 (2000) 19-23.
• 3. Murthy, N.S., Chaudhry, K., Nadayil, D., Agarwal, U.K. and Saxena, S. Changing trends in incidence of breast cancer: Indian scenario. Ind. J. Cancer 46 (2009) 73-74.
• 4. Armaou, S., Pertesi, M., Fostira, F., Thodi, G., Athanasopoulos, P.S., Kamakari, S., Athanasiou, A., Gogas, H., Yannoukakos, D., Fountzilas, G. and Konstantopoulou, I. Contribution of BRCA1 germ-line mutations to breast cancer in Greece: a hospital-based study of 987 unselected breast cancer cases. Br. J. Cancer 101 (2009) 32-37.
• 5. Newman, B., Austin, M.A., Lee, M. and King, M.C. Inheritance of human breast cancer: evidence for autosomal dominant transmission in high-risk families. Proc. Natl. Acad. Sci. USA 85 (1988) 3044-3048.
• 6. Begg, C.B., Haile, R.W., Borg, A., Malone, K.E., Concannon, P., Thomas, D.C., Langholz, B., Bernstein, L., Olsen, J.H., Lynch, C.F., Anton-Culver, H., Capanu, M., Liang, X., Hummer A.J., Sima, C. and Bernstein, J.L. Variation of breast cancer risk among BRCA1/2carriers. JAMA 299 (2008) 194-201.
• 7. Stratton, M.R. and Rahman, N. The emerging landscape of breast cancer susceptibility. Nat. Genet. 40 (2008) 17-22.
• 8. Rosen, E.M., Fan, S., Pestell, R.G. and Goldberg, I.D. BRCA1 gene in breast cancer. J. Cell Physiol. 196 (2003) 19-41.
• 9. Miki, Y., Swensen, J., Shattuck-Eidens, D., Futreal, P.A., Harshman, K., Tavtigian, S., Liu, Q., Cochran, C., Bennett, L.M., Ding, W., Bell, R., Rosenthal, J., Hussey, C., Tran, T., Melody, M., Frye, C., Hattier, T. et al. A strong candidate for the breast and ovarian cancer susceptibility gene BRCA1. Science 266 (1994) 66-71.
• 10. Korlimarla, A., Bhandary, L., Prabhu, J.S., Shankar, H., Sankaranarayanan, H., Kumar, P., Remacle, J., Natarajan, D. and Sridhar, T.S. Identification of a non-canonical nuclear localization signal (NLS) in BRCA1 that could mediate nuclear localization of splice variants lacking the classical NLS. Cell. Mol. Biol. Lett. 18 (2013) 284-296.
• 11. Huen, M.S., Sy, S.M. and Chen, J. BRCA1 and its toolbox for the maintenance of genome integrity. Nat. Rev. Mol. Cell Biol. 11 (2010) 138-148.
• 12. O’Donovan, P.J. and Livingston, D.M. BRCA1 and BRCA2: breast/ovarian cancer susceptibility gene products and participants in DNA double-strand break repair. Carcinogenesis 31 (2010) 961-967.
• 13. Yu, X., Chini, C.C., He, M., Mer, G. and Chen, J. The BRCT domain is a phospho-protein binding domain. Science 302 (2003) 639-642.
• 14. Chakraborty, A., Mukhopadhyay, A., Bhattacharyya, D., Bose C.K., Choudhuri, K., Mukhopadhyay, S. and Basak, J. Frequency of 5382insC mutation of BRCA1 gene among breast cancer patients: an experience from Eastern India. Fam. Cancer 12 (2013) 489-495.
• 15. Miller, S.S., Dykes, D.D. and Polesky, H.F.A simple salting out procedure for extracting DNA from human nucleated cells. Nucleic Acids Res. 16 (1988) 12152.
• 16. Dufloth, R.M, Carvalho, S., Heinrich, J.K., Shinzato, J.Y., Santos C.C., Zeferino, L.C. and Schmitt, F. Analysis of BRCA1 and BRCA2 mutations in Brazilian breast cancer patients with positive family history. Sao Paulo Med. J. 123 (2005) 192-197.
• 17. Trott, O. and Olson, A.J. AutoDock Vina: improving the speed and accuracy of docking with a new scoring function, efficient optimization, and multithreading. J. Comput. Chem. 31 (2010) 455-461.
• 18. Williams, R.S. and Glover, J.N. Structural consequences of a cancer-causing BRCA1-BRCT missense mutation. J. Biol. Chem. 278 (2003) 2630-2635.

Uwagi

rekord w opracowaniu