abstract
RESULTS:
Of
the 193 patients with evaluable data,
35% had an identifiable
hereditary cancer syndrome, including 23 with Lynch syndrome,
22 with
mutation-negative Lynch syndrome, 16 with familial adenomatous
polyposis, two with constitutional mismatch repair deficiency, two with
biallelic MUTYH mutations, and one with Li-Fraumeni syndrome. Patients
without a hereditary syndrome more frequently presented with metastatic
disease, whereas patients with a syndrome were more likely to present at
earlier stages and to have a family history of cancer.
Nevertheless, a
substantial proportion of the hereditary syndromes (19%) were diagnosed
in individuals with no family history of the disease.
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