Abstract
Breast cancer is a complex disease in which numerous genetic aberrations occur whose causative effects on tumorigenesis remain illusive. It is becoming clearer that specific molecular alterations are required in the progression of this disease and have been implicated in the development of breast cancer. Therefore specific genetic changes have become critical factors towards understanding the development of this disease. At the chromosomal level, data of the least and most associated chromosomal sites, that may be relevant to breast tumorigenesis, are accumulating rapidly.
The most frequently involved sites are: 1p32, 1p34, 1q25-qter, del(1)(q11-q12), der(1;16)(q10p10), t(1;3)(p31;q24), t(1;7)(p22q32), t(1;10)(p22;ql4); 2q; 3p14.2-21.1, 3p24.3-25, del(3)(p 12-21), t(3;4)(p14;q21); 4q21; 5q; 6p, del(6)(q21.2); 8p11, 8p12, 8q24; 9p21-24, 9p; 11p11, 11pl5, 11ql3, 11q23.1, 11q24.1; 12p, 12q13; 13q12-24; 14q; 15q; 16q22, 16q24; 17pl3.3, 17q11.2-21, 17ql2; 18q21; 20ql2-qter and 22q13.1.
Strikingly, the breaks on different chromosomes are highly variable. The recurrent gains of chromosomes were 1, 4, 5, 6, 7, 11, 12, 16, 17, 18, 19 and 20 while less of chromosomes 6 and 7 were quite frequent. Some of these changes have been correlated with adverse prognosis in this disease. In addition, we present a detailed account of molecular markers and discuss their clinical relevance.
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Mattoo, A., Verma, R. Zeroing-in-on breakpoint susceptibility regions on chromosomes in breast carcinoma. Genet Med 2, 94 (2000). https://doi.org/10.1097/00125817-200001000-00154
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DOI: https://doi.org/10.1097/00125817-200001000-00154