BRCA1 - lots of mutations, lots of dilemmas

Article Abstract:

Screening for mutations of the BRCA1 gene, which has been associated with breast and ovarian cancer, should be limited to research settings until screening technology and treatment strategies are improved. Research has shown that mutations of this gene are common in women with breast cancer who also have a family history of breast cancer. Two 1996 studies suggest that the mutations occur in women with and without family histories of breast cancer and may occur more commonly in Jewish than in non-Jewish women. However, general screening of women cannot be recommended for various reasons. The variety of mutations make precise testing difficult. In addition, it is not clear what preventative strategies can be used with women who have BRCA1 mutations. Furthermore, these women may receive inadequate genetic counselling and be discriminated against by health insurance companies. Nonetheless, many women wish to be tested. Perhaps the National Institutes of Health should support a national trial of screening.

Editorial, Genetic screening, Genetic testing

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Relation between obesity and breast cancer in young women

Article Abstract:

The relation between body size and risk of breast cancer in young women has been studied in a case-control study in Washington State. Subjects were 21-45 years old and had invasive or in situ breast cancer diagnosed between Jan. 1, 1983, and April 30, 1990. Dcreased risk of breast cancer was found for subjects in the highest quintile of body mass index vs those of the lowest quintile. Age was a modifier of risk and in the highest quintile of maximum body mass index, for those 21-35 years of age, the odds ratio was 0.29 vs 1.5 for women 36-45 years of age. Prior research has shown decreased risk of breast cancer associated with greater body size in premenopausal/young women, and the study supports that. A strong effect, based on more detailed analysis, was limited to the youngest age group, that is, those under 36 years of age. Detection bias ias a possible lmitation in the study because smaller tumors are more easily detected in thinner women.

United States, Health aspects, Usage, Risk factors, Physiological aspects, Young women, Obesity, Anthropometry, Stature, Body height, Breast tumors

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BRCA1 mutations in a population-based sample of young women with breast cancer

Article Abstract:

Mutations in the BRCA1 gene may occur in approximately 10% of women with early breast cancer, and may not be limited to women with family histories of the disease. Mutations in this gene have been associated with breast cancer in previous studies. Researchers analyzed DNA from 80 women diagnosed with breast cancer before the age of 35 and, when possible, conducted interviews. BRCA1 mutations occurred in six of the women and uncommon sequences of the gene with unknown effects occurred in four of the women. Two mutations and three gene variations occurred in women without family histories of breast cancer. Although mutations of this gene may play a role in the development of breast cancer, screening of the general population for the mutation remains unwarranted.

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