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The population of Sardinia is characterized by a relatively low level of genetic heterogeneity: therefore ‘founder mutations’ can be expected to be found. We analysed 17 probands from families with high incidence of breast cancer or breast and ovarian cancer by sequencing the full-length coding...
In a population-based cohort followed for three decades, the absolute interval between the diagnosis of cancer in mothers and their offspring is shorter than expected by chance. Explanations include shared environmental exposures or the possibility that cancer ascertainment in one pair member...
In the diagnostic work-up of hereditary non-polyposis colorectal cancer (HNPCC, Lynch syndrome), high-risk patients can be identified using information from the family history on cancer (‘Amsterdam criteria’ and ‘Bethesda guidelines’). To investigate to what extent the medical specialists apply...
Computed tomographic colonography (CTC) is suggested to be an alternative to colonoscopy as a surveillance tool in subjects with a high risk for colorectal cancer (CRC). To evaluate the utility of CTC we successively examined 78 subjects, all with a DNA mismatch repair gene mutation, by CTC and...
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