Abstract
RAP80 and CCDC98 have arisen as new candidate breast cancer susceptibility genes, since they encode for two very recently identified BRCA1 interacting proteins. In this study we have performed the first mutational analysis of both genes in 168 multiple-case breast/ovarian cancer families, negative for mutations in BRCA1 or BRCA2. We have not found truncating mutations in any of the genes and only two missense variants, p.Tyr564His in RAP80, and p.Met299Ile in CCDC98 were found that could be suspected to have a pathogenic effect, although further analyses suggested that they were probably non deleterious. Our analysis suggests that RAP80 and CCDC98 do not play an important role as high penetrance breast cancer susceptibility genes.
Publication types
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Research Support, Non-U.S. Gov't
MeSH terms
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Adult
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Aged
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BRCA1 Protein / physiology
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Breast Neoplasms / epidemiology
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Breast Neoplasms / genetics*
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Breast Neoplasms, Male / genetics
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Carrier Proteins / genetics
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Carrier Proteins / physiology*
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Colonic Neoplasms / epidemiology
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Colonic Neoplasms / genetics
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DNA Mutational Analysis
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DNA, Neoplasm / genetics
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DNA-Binding Proteins
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Female
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Genes, BRCA1
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Genes, BRCA2
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Genes, Neoplasm*
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Genetic Predisposition to Disease
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Histone Chaperones
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Humans
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Male
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Middle Aged
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Mutation, Missense
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Neoplasm Proteins / genetics
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Neoplasm Proteins / physiology*
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Neoplastic Syndromes, Hereditary / epidemiology
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Neoplastic Syndromes, Hereditary / genetics*
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Nuclear Proteins / genetics
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Nuclear Proteins / physiology*
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Ovarian Neoplasms / epidemiology
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Ovarian Neoplasms / genetics
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Pedigree
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Penetrance
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Polymorphism, Single Nucleotide
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Young Adult
Substances
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ABRAXAS1 protein, human
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BRCA1 Protein
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BRCA1 protein, human
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Carrier Proteins
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DNA, Neoplasm
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DNA-Binding Proteins
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Histone Chaperones
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Neoplasm Proteins
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Nuclear Proteins
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UIMC1 protein, human