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Functional, structural, and genetic evaluation of 20 CDKN2A germ line mutations identified in melanoma‐prone families or patients
Germline mutations of the CDKN2A gene are found in melanoma‐prone families and individuals with multiple sporadic melanomas. The encoded protein, p16INK4A, comprises four ankyrin‐type repeats, andExpand
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Primary proliferative T cell response to wild‐type p53 protein in patients with breast cancer
Mutations in the p53 tumor suppressor gene are the most frequent genetic alterations found in human tumors. These are mainly point mutations that lead to single amino acid substitutions. The mutatedExpand
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Screening for TP53 rearrangements in families with the Li–Fraumeni syndrome reveals a complete deletion of the TP53 gene
The absence of detectable germline TP53 mutations in a fraction of families with Li–Fraumeni syndrome (LFS) has suggested the involvement of other genes, but this hypothesis remains controversial.Expand
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Mapping and ranking of potential cytotoxic T epitopes in the p53 protein: effect of mutations and polymorphism on peptide binding to purified and refolded HLA molecules
In many cancer cells, the p53 gene displays point mutations that result in stabilization and accumulation of the p53 protein. Therefore, p53 peptides could be presented to the immune system by tumorExpand
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eMelanoBase: An online locus‐specific variant database for familial melanoma
A proportion of melanoma‐prone individuals in both familial and non‐familial contexts has been shown to carry inactivating mutations in either CDKN2A or, rarely, CDK4. CDKN2A is a complex locus thatExpand
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Characterisation of a 161 kb deletion extending from the NBR1 to the BRCA1 genes in a French breast‐ovarian cancer family
A large germline deletion removing exons 1 to 22 of the BRCA1 gene has been previously detected using quantitative PCR based methods (QMPSF and real time PCR gene dosage assay) in a woman affectedExpand
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