BCRA1 sequence analysis in women at high risk for susceptibility mutations: risk factor analysis and implications for genetic testing

Article Abstract:

Researchers have identified mutations in the BRCA1 gene predisposing women to breast cancer that would not be detected by many tests. Genetic analysis performed on 798 people from families thought to have an increased risk of BRCA1 mutations found that 13% of the women had a mutation that increased their risk of breast cancer. The women had one of 48 different mutations, 24 of which have not been previously reported. Two-thirds of the previously unknown mutations occurred in other parts of the BRCA1 gene than exon 11, which is the part most researchers focus on. Consequently, tests based on exon 11 would miss 33% of the mutations in non-Ashkenazi women.

Gene mutations, Gene mutation, Identification and classification, Disease susceptibility

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Preimplantation genetic diagnosis for cancer syndromes: A new challenge for preventive medicine

Article Abstract:

An overview is provided of regulatory, ethical and social issues mounted by the introduction of preimplantation genetic diagnosis (PGD) into the care of families affected by hereditary cancer, which is an assisted reproductive technology (ART) wherein embryos that do not inherit a familial mutation are selected for implantation and gestation. An analytical framework is presented to address these issues with an aim for responsible translation of this technique into preventive medicine.

Usage, Cancer, Reproductive technology, Preimplantation diagnosis

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Breast MRI for women with hereditary cancer risk

Article Abstract:

Meta-analysis of various studies indicated that the average risk of a hereditary predisposition to breast cancer by 70 years is 65% for women with BRCA1 mutations and 45% for BRCA2 mutations. It is stated that magnetic resonance imaging(MRI) has emerged as an extremely powerful tool in breast cancer management, which helps in identification of tumor neovascularity that cannot be identified by conventional mammography.

United States, Evaluation, Magnetic resonance imaging, Meta-analysis

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