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Haploinsufficiency for BRCA1 is associated with normal levels of DNA nucleotide excision repair in breast tissue and blood lymphocytes by Jean J Latimer; Wendy S Rubinstein; Jennifer M Johnson; Amal Kanbour-Shakir; Victor G Vogel; Stephen G Grant is a Biochemistry, Genetics and Molecular Biology article available to read on EtoBox.

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## Background Screening mammography has had a positive impact on breast cancer mortality but cannot detect all breast tumors. In a small study, we confirmed that low power magnetic resonance imaging (MRI) could identify mammographically undetectable tumors by applying it to a high risk population. Tumors detected by this new technology could have unique etiologies and/or presentations, and may represent an increasing proportion of clinical practice as new screening methods are validated and applied. A very important aspect of this etiology is genomic instability, which is associated with the loss of activity of the breast cancer-predisposing genes __BRCA1__ and __BRCA2__. In sporadic breast cancer, however, there is evidence for the involvement of a different pathway of DNA repair, nucleotide excision repair (NER), which remediates lesions that cause a distortion of the DNA helix, including DNA cross-links. ## Case presentation We describe a breast cancer patient with a mammographically undetectable stage I tumor identified in our MRI screening study. She was originally considered to be at high risk due to the familial occurrence of breast and other types of cancer, and after diagn

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Author

Jean J Latimer; Wendy S Rubinstein; Jennifer M Johnson; Amal Kanbour-Shakir; Victor G Vogel; Stephen G Grant

Publisher

BioMed Central; Springer (Biomed Central Ltd.); London: BioMed Central, 2000-; Springer Science and Business Media LLC (ISSN 1471-2350)

Published

2005

Language

EN

Field

Biochemistry, Genetics and Molecular Biology (Life Sciences)