RGD Reference Report - Histopathological features of breast cancer in carriers of ATM gene variants. - Rat Genome Database

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Histopathological features of breast cancer in carriers of ATM gene variants.

Authors: Balleine, RL  Murali, R  Bilous, AM  Farshid, G  Waring, P  Provan, P  Byth, K  Thorne, H  Kirk, JA  Kirk, J A 
Citation: Balleine RL, etal., Histopathology. 2006 Nov;49(5):523-32.
RGD ID: 1643349
Pubmed: PMID:17064299   (View Abstract at PubMed)
DOI: DOI:10.1111/j.1365-2559.2006.02538.x   (Journal Full-text)

AIMS: Germline variants in the ataxia telangiectasia mutated (ATM) gene have been implicated in increased breast cancer risk. The aim of this study was to determine whether the histopathology of breast cancers occurring in ATM variant carriers is distinctive or resembles the described BRCA1 mutation-associated phenotype. METHODS: The histopathological features of breast cancers occurring in ATM variant carriers from multiple-case breast cancer families were compared with matched controls. The test group included 21 cases of in situ and/or invasive cancer from carriers of either the IVS10-6T-->G, 2424V-->G or 1420L-->F ATM variants in the absence of BRCA1 or BRCA2 mutations. An additional four invasive cancers from carriers of a pathogenic BRCA1 mutation in the context of a familial ATM variant were also examined. RESULTS: The histopathology of breast cancers in ATM variant-only carriers was not significantly different from controls and known features of BRCA1 mutation-associated cancer were rarely seen. In contrast, these features were prominent in the small group of cases with a pathogenic BRCA1 mutation. CONCLUSIONS: Breast cancer occurring in carriers of ATM variants is not associated with distinctive histopathological features and does not resemble the tumour phenotype commonly observed in BRCA1 mutation carriers.

Objects referenced in this article
Gene ATM ATM serine/threonine kinase Homo sapiens
Gene Atm ataxia telangiectasia mutated Mus musculus
Gene Atm ATM serine/threonine kinase Rattus norvegicus

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