Abstract 1844P
Background
Hereditary and familiar tumors are a challenge in current cancer care. Since September 2016, HGATA AGO office has been operating with the collaboration of the National Cancer Institute. Its purpose is to assess the risk of cancer and transmitting it to offspring, increase early diagnosis, prevent certain neoplasms, offer treatment options in selected situations. Objective is to report the consultations, mutations and hereditary oncological syndromes found since the HGATA AGO office opening.
Methods
From September 2016 to March 2021, 170 patients with personal or family history of cancer were evaluated. Most were referred by the treating physician.
Results
Of the 170 patients evaluated, 49% have a diagnosis of breast cancer; 9.4% colon cancer; 12.3% ovarian cancer; other tumors 7%; more than one tumor 9.4%; without cancer diagnosis but with family history 13.5%. 66% (112) had a personal and family history, 20% (35) only personal history. 81% (138) had criteria to perform a genetic test, the remaining 18% (31) had no criteria or did not complete genealogical data. 1 patient (0.6%) died after consultation. In 83% (115) of the 138 patients molecular tests were requested: 62 multigenetic panels, 36 complete sequencing plus MLPA of BRCA1 / 2 genes, 11 immunohistochemistry (IHC) for MMR, 6 sequencing for point mutations. Of this 83%, 30% (40) of the patients carried out the molecular / genetic study, the remaining 53% (75) did not due to lack of coverage or to refusal by patient medical insurance. Findings: 11 pathogenic variants in the BRCA1 / 2 genes, compatible with Breast-Ovarian Syndrome, 2 pathogenic variants in the MMR genes, compatible with Lynch syndrome, 8 variants of uncertain significance, 2 pathogenic variants in other genes.
Conclusions
The AGO office is a fundamental tool for multidisciplinary work in the management of cancer patients. The detection of hereditary cancer syndromes allows to develope a prevention plan for patient´s relatives at risk of hereditary cancer. The results of molecular genetic studies could change therapeutic options in a subset of patients. The access to molecular genetic test is still difficult and should be universal.
Clinical trial identification
Editorial acknowledgement
Legal entity responsible for the study
The authors.
Funding
Has not received any funding.
Disclosure
All authors have declared no conflicts of interest.