Breast cancer: causes, diagnosis, and treatment

¶ … 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 cancer and at least on family member diagnosed at an early age (TransMed, 1997).

Another study revealed that the average cumulative risk of breast cancer in BRCA1-mutation carriers by age 70 was 65%, and the corresponding estimate for BRCA2 mutation carriers is 45% (Antoniou et al., 2003). 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. Additional mutations then follow, which permit the development of what eventually results in metastatic disease (TransMed, 1997).

There are courses of action that can be taken by individuals who are genetically susceptible to breast cancer. These measures include enhanced surveillance for early disease detection occurring earlier and more frequently, preventative surgery for the removal of at-risk tissue and chemoprevention (TransMed, 1997). Mammography is the most depended upon method of breast cancer surveillance.

It is important that Igna's daughters undergo genetic testing to determine if they are at a high risk of developing breast cancer. However, decision-making about enrolling children in genetic susceptibility research should involve informed consent (Geller et al., 2003). This decision-making process should be tailored to the maturity level of the child and the communication style of the family involved.