p53 mutation and cancer
p53 MUTATIONS IN BREAST CANCER
Borresen-Dale, A.L. (2003) TP53 and breast cancer. Hum Mutat, 21, 292-300.-> Download
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Breast cancer is the third most common tumor in the world and represents 9% of the global cancer burden. This percentage varies considerably around the world: in high-risk areas, such as North America and western Europe, breast cancer accounts for one in four female cancers, while in low-risk areas such as China and Japan, it accounts for only one in eight to one in 16. The importance of environmental factors in the etiology of breast cancer is demonstrated by the change in risk in migrant populations. Rates of breast cancer in European migrants to the USA evolve relatively rapidly toward those of the US population, but changes in migrant populations from China and Japan are less rapid.
Analyses of the pattern of p53 mutations in breast cancer have led to the discovery of substantial diversity of the mutational pattern among cohorts from various areas in the world (table 1). This heterogenity concerns i) the frequency of p53 mutations ii) the frequency of frameshift mutation (deletions and insertion) and iii) the frequency of transversions.
The frequency of the p53 mutation could reflect the sensitivity of the various methods used in these studies. Nevertheless, different frequencies and patterns were found among 6 populations analyzed by the same laboratory using the same methodology, suggesting that other factors could be involved. Blaszyk et al. reported some striking differences in mutation frequency within Japanese populations, but the reasons for such observations are unclear. The unusually high frequency of deletions and insertions in rural Caucasian midwestern women compared to other populations is also difficult to explain, and could reflect exposure to particular environmental carcinogens. A similar explanation can be advanced for the heterogenous frequency of transition and transversions (table1).
The pattern of p53 mutations in breast cancer is highly complex. The differences in these patterns of mutation in geographically and/or racially diverse populations reflect an intrinsic (endogenous) pattern of mutation plus exposure to particular environmental carcinogens.
Spectrum of p53 mutations in breast cancer