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¶ … tragedy that, at such a young age, a woman such as Igna has to deal with the pain and emotional stress of breast cancer. It is important to explore whether early detection through genetic testing and counselling could have prevented the disease, or if these pre-emptive measures would be beneficial for her two young daughters.
Research into genetic factors involved in the occurrence of breast cancer have yielded some interesting and crucial findings. Studies have shown that mutations within certain genes have been linked to an increased risk of breast cancer. The effects of genetic mutations on the risk of breast cancer have been observed to be a function of a woman's age, with the greatest ratio of age-specific risks found at young ages (TransMed Network, 1997). Specifically, two major genes linked to breast cancer susceptibility are located on chromosomes 17q and 13q, and their corresponding names are BRCA1 and BRCA2. Mutations within these genes were found in families with four or more cases of breast...
It was also found through this study that the risk of breast cancer declines significantly with age for BRCA1 mutation carriers, but not for BRCA2 mutation carriers. Also, risks in carriers were found to be higher when based on index breast cancer cases diagnosed at the age of 35 or younger, which, of course, is relevant to Igna's case.
According to TransMed (1997), Breast cancer is thought to develop through a series of genetic mutational events that begin in a single cell. The series is as follows: normal epithelium - hyperplasia - dysplasia - in situ carcinoma - carcinoma - metastasis. The initial event in this sequence allows for increased cellular proliferation, which increases the number of normal cells.…
References
Antoniou, A. et al. "Average Risks of Breast and Ovarian Cancer Associated with BRCA1 or BRCA2 Mutations Detected in Case Series Unselected for Family History: A Combined Analysis of 22 Studies." American Journal of Human Genetics 72.5 (April, 2003).
Geller, G., Tambor, E., Bernhardt, B., Fraser, G., Wissow, L. "Informed Consent for Enrolling Minors in Genetic Susceptibility Research: a Qualitative Study of At-Risk Children's and Parents' Views about Children's Role in Decision Making." Journal of Adolescent Health 32.4 (April, 2003): 260-71.
TransMed Network, 1997. http://www.breastdiseases.com/genebr2.htm
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