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研究摘要
In this study, we will include 500 patients at high risk for hereditary cancer over the course of three years. Clinical physicians will refer patients who meet the inclusion criteria to genetic counseling. Physician will explain the nature of the study and the genetic counselor will explain the content of genetic test, the meaning and the impact of genetic test for them. After patients fully understand the meaning of this study, they will sign the informed consent form to be included in this trial. For patients enrolled into the trial, genetic counselor will discuss personal and family cancer history with patients and collect medical data, such as numbers of colorectal hamartomatous polyps, associated pathology report, medical images from MRI, CT and X-ray. From these information, genetic counselor can evaluate the risk of hereditary cancer for patients and family members.
Test will be completed around 3 to 4 weeks and the report will be available to the genetic counselor. The genetic counselor will discuss the test result with physician, and evaluate the best possible treatment options. In addition to discussing with physicians, the genetic counselor will explain the final treatment suggestions and the meaning of testing with patients and family members, to assist in the evaluation of the risk of inherited cancer and treatment decision making.
Progress report
From April 2019 to date, we included 157 cases from 146 families and 130 tests were completed, 26 mutations were detected. In those mutations, there are 9 patients with BRCA2 mutations (34.5%), patients with BRCA1 mutations are 3 cases(11.5%). 2 of patients are MUTYH mutations(7%) and 2 of the patients are RAD51D mutations(7%). We also detected mutations from PTEN, BAP1, PALB2, PMS2, APC, CDH1, PRSS1, MLH1, LZTR1, BRIP1 in different familial cases. Up to now, the overall detection rate is 20%.
Patients with BRCA1/2 mutations, their clinical diagnosis are not only breast cancer, also ovarian cancer, pancreatic cancer and nasopharyngeal carcinoma. The other hand, patients with breast cancer are detected with BAP1, BRIP1, MUTYH, PALB2 and RAD51D mutations. The primary result is close to our assumption that breast cancer patients should be test by a comprehensive hereditary cancer panel.
We have set up the process of genetic counseling and test at our 3 branch hospitals. Hoping we can include 300 families at the end of this year.
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