Abstract
A male member of a large HNPCC kindred, affected by primary malignancies of the breast and colon, was identified. This individual was found to harbor a germline mutation of the MLH1 mismatch repair gene previously shown to segregate with disease in this kindred. The breast tumor exhibited somatic reduction to homozygosity for the MLH1 mutation, and microsatellite instability was evident in the breast tumor. We conclude that hereditary male breast cancer can occur as an integral tumor in the HNPCC syndrome.
Publication types
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Case Reports
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Research Support, Non-U.S. Gov't
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Research Support, U.S. Gov't, P.H.S.
MeSH terms
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Aged
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Alleles*
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Breast Neoplasms, Male / complications
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Breast Neoplasms, Male / genetics*
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Carcinoma, Ductal, Breast / complications
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Carcinoma, Ductal, Breast / genetics*
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Colorectal Neoplasms, Hereditary Nonpolyposis / complications
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Colorectal Neoplasms, Hereditary Nonpolyposis / genetics*
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DNA Primers
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Germ-Line Mutation
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Humans
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Loss of Heterozygosity
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Male
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Microsatellite Repeats / genetics
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Pedigree
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Polymerase Chain Reaction