Article
Double heterozygosity for BRCA1 and hMLH1 gene mutations in a 46-year-old woman with five primary tumors.
Techniques in coloproctology - 1 Mar 2014
Pedroni M, Di Gregorio C, Cortesi L, Reggiani Bonetti L, Magnani G, Simone M L, Medici V, Priore Oliva C, Marino M, Ponz de Leon M
Abstract excerpt
Germline mutations in BRCA1 and BRCA2 genes predispose to hereditary breast cancer, whereas carriers of mutations in any of the mismatch repair genes (MMR; hMLH1, hMSH2, hMSH6, hPMS2) are highly susceptible to Lynch syndrome. In the present study, we describe a woman affected by unilateral breast cancer at the age of 35 years. After 4 years, during the follow-up she developed synchronous (and asymptomatic)...
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