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Article

Functional characterization of novel presenilin-2 variants identified in human breast cancers.

Oncogene - 15 Jun 2006

To M D, Gokgoz N, Doyle T G, Donoviel D B, Knight J A, Hyslop P S, Bernstein A, Andrulis I L

Abstract excerpt

We identified in breast cancer cases two germline alterations, R62H and R71W, in presenilin-2 (PS-2), a gene involved in familial Alzheimer's disease (FAD). The role of these alleles in FAD is unclear, but neither allele affected Abeta(42)/Abeta(40) ratio. However, both R62H and R71W alterations compromised PS-2 function in Notch signaling in Caenorhabditis elegans and cell growth inhibition in mouse embryonic...

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Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

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Identifiers

PMID: 16474849
DOI: 10.1038/sj.onc.1209397

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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