Abstract
Rare germline monoallelic mutations in PALB2 confer a relative risk of breast cancer of 2 to 4-times. To better define the role of PALB2 in breast cancer susceptibility in Italian breast or breast-ovarian cancer families we screened 95 index cases negative for BRCA1/BRCA2 germline mutations. The mutational analysis of the PALB2 gene in a index case of an high risk breast cancer family, has identified a frameshift mutation (c.1517delG) in the exon 4 that leads to the formation of a stop codon, 12 residues downstream of the mutation (Leu451X). The mutation was identified in a woman 52 year old with an infiltrating ductal breast carcinoma and in two of the three sisters without breast cancer. Our results confirmed that PALB2 could be a susceptibility gene for familial breast cancer also in Italian population.
Publication types
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Research Support, Non-U.S. Gov't
MeSH terms
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Adult
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BRCA1 Protein / genetics
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BRCA2 Protein / genetics
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Breast Neoplasms / genetics*
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Breast Neoplasms / pathology
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DNA Mutational Analysis
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DNA, Neoplasm / genetics
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Fanconi Anemia Complementation Group N Protein
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Female
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Genetic Predisposition to Disease*
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Genotype
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Humans
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Italy
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Loss of Heterozygosity
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Male
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Middle Aged
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Mutation / genetics*
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Nuclear Proteins / genetics*
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Ovarian Neoplasms / genetics*
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Ovarian Neoplasms / pathology
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Pedigree
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Polymerase Chain Reaction
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Prognosis
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RNA, Messenger / genetics
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Receptors, Estrogen / metabolism
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Receptors, Progesterone / metabolism
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Tumor Suppressor Proteins / genetics*
Substances
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BRCA1 Protein
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BRCA2 Protein
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DNA, Neoplasm
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Fanconi Anemia Complementation Group N Protein
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Nuclear Proteins
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PALB2 protein, human
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RNA, Messenger
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Receptors, Estrogen
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Receptors, Progesterone
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Tumor Suppressor Proteins