When brachytherapy met genetic oncology. Can radiation oncologists improve the detection of hereditary non-polyposis colorectal cancer?

Abstract Between January 1994 and December 2004, 696 patients with localized endometrial carcinoma have been treated at the Institute Jean-Godinot. Patients were selected on the following criteria: histologically proven adenocarcinoma of the endometrium; age at onset under 60 years; patient not dece...

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Bibliographic Details
Published in:European journal of medical genetics 2011-01, Vol.54 (1), p.60-62
Main Authors: Nguyen, Tan Dat, Delvincourt, Chantal, Gorisse, Marie-Claude, Penet, Clotilde
Format: Article
Language:English
Subjects:
Adaptor Proteins, Signal Transducing - genetics
Adenocarcinoma - diagnosis
Adenocarcinoma - genetics
Adenocarcinoma - radiotherapy
Brachytherapy - methods
Colorectal Neoplasms, Hereditary Nonpolyposis - diagnosis
Colorectal Neoplasms, Hereditary Nonpolyposis - genetics
Colorectal Neoplasms, Hereditary Nonpolyposis - radiotherapy
DNA Repair - genetics
Endometrial cancer
Endometrial Neoplasms - diagnosis
Endometrial Neoplasms - genetics
Endometrial Neoplasms - radiotherapy
Female
Humans
Lynch syndrome
Medical Education
Mutation
MutL Protein Homolog 1
MutS Homolog 2 Protein - genetics
Nuclear Proteins - genetics
Outcome Assessment (Health Care)
Surveys and Questionnaires
Citations: Items that this one cites
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Summary:Abstract Between January 1994 and December 2004, 696 patients with localized endometrial carcinoma have been treated at the Institute Jean-Godinot. Patients were selected on the following criteria: histologically proven adenocarcinoma of the endometrium; age at onset under 60 years; patient not deceased at the time of the study. One hundred twelve patients met these criteria and received a mailed specific questionnaire to establish their pedigree. Thirty-one patients (35.5%) were eventually found eligible for a genetic counselling but only 13 patients agreed to be informed later on. According to the obtained pedigrees and MSI test results, 7 genetic tests have been carried out and so far, 3 MMR mutations were detected. This study suggested the feasibility of a step by step screening of endometrial cancers to select patients at risk for Lynch syndrome and for whom a genetic test would be recommended. Authors suggest that either Amsterdam or Bethesda criteria should be systematically used prospectively in every newly diagnosed endometrial cancer and retrospectively using clinical databases available on endometrial cancers.
ISSN:1769-7212
1878-0849
DOI:10.1016/j.ejmg.2010.09.017