| Autor: |
Macklin SK; Department of Clinical Genomics, Mayo Clinic, Jacksonville, FL, United States., Kasi PM; Department of Oncology, Mayo Clinic, Jacksonville, FL, United States., Jackson JL; Department of Clinical Genomics, Mayo Clinic, Jacksonville, FL, United States., Hines SL; Department of Diagnostic and Consultative Medicine, Mayo Clinic, Jacksonville, FL, United States. |
| Jazyk: |
angličtina |
| Zdroj: |
Frontiers in oncology [Front Oncol] 2018 Aug 21; Vol. 8, pp. 330. Date of Electronic Publication: 2018 Aug 21 (Print Publication: 2018). |
| DOI: |
10.3389/fonc.2018.00330 |
| Abstrakt: |
Discovery of a hereditary cancer syndrome can be one of the factors that determine whether a healthy individual completes pancreas cancer screening or whether an individual with cancer receives certain chemotherapies. Retrospective review was completed to determine the likelihood of detection of a pathogenic variant causing a hereditary cancer syndrome based on personal and family history. Study was completed through the hereditary cancer clinic at Mayo Clinic Florida over a 6 year period, 1/2012 through 1/2018. All participants were referred based on suspicion for a hereditary cancer syndrome based on personal and/or family history. Patients' personal oncologic history at time of consultation was recorded, as well as, cancer diagnoses in the family history and the number of family members with a history of pancreas cancer. Test result and gene name, if variant was pathogenic or likely pathogenic, were noted as well. A total of 2,019 patients completed genetic testing during study period. Personal history of cancer included a variety of primaries, including breast ( N = 986), ovarian ( N = 119), colon ( N = 106), prostate ( N = 65), and pancreas ( N = 59). A positive result was discovered in 11% of the total group. Two hundred and eighty five reported a family history of pancreas cancer. The incidence of pathogenic variants was 13% (37/285) in those with any family history and 23% (13/56) in those with two or more relatives with pancreatic cancer. Those with multiple relatives with pancreatic cancer were significantly more likely to carry a pathogenic variant than those with a personal history of breast cancer under the age of 45 (23.2 vs. 11.9%, p = 0.02). Presence of multiple family members with a reported history of pancreatic cancer significantly increased the likelihood that a pathogenic variant would be identified in the patient even over other significant risk factors, like personal history of early onset breast cancer. |
| Databáze: |
MEDLINE |
| Externí odkaz: |
|
