Pr157 Male Breast Cancer: Clinicopathological Characteristics and Outcome of Patients Treated in Tanzania
Year: 2023
Type: conference-abstract
Abstract: The project started in February 2023 and the goal is to study the spectrum and frequency landscape of hereditary mutations in the genes responsible for DNA repair in the Republic of Armenia.Methods: During the study, we do analysis of the coding sequence by the new generation sequencing (NGS) of the genes of 1,000 patients of the Armenian population with breast cancer and their first-degree relatives (if mutations are detected).A special protocol was developed for indications for patient engagement in the study, standards for blood collection and storage of material (blood), informed consent, individual registration cards, online forms to be filled out by all parties of the project, and a database.The study's gene panel includes: ATM, ATR, BARD1, BRCA1, BRCA2, BRIP1, CDH1, CDK12, CHEK1, CHEK2, EPCAM, FANCL, MLH1, MSH2, NBN, NF1, PALB2, PMS2, RAD51B, RAD51C, RAD51D, RAD54L, STK11, TP53, POLE.Results: By the end of May 2023, the study included 193 patients with criteria corresponding to the study protocol, whereby for 85 of them genetic testing and interpretation of data was processed.In 60 patients no mutations were identified, whereas in 20 patients (23.5%),21 mutations were detected: BRCA1 -in 7 patients, BRCA2 -7, ATM -2, BRIP -2, TP53 -2, CDH1 -1.In one patient with BRCA2 gene mutation CDH1 was also detected.Conclusion: A hi-gh percentage of mutations in the sample indicates the relevance of this study.A unified database of frequencies of hereditary mutations in the genes of the DNA repair system for the population of Armenia will allow to assess the risks of hereditary breast cancer in Armenia, draw conclusions and develop appropriate recommendations. PO155
Source: The Breast
Language: English
Topic: Male Breast Health Studies
Field: Medicine
Domain: Health Sciences
Open Access status: gold
Estimated APC paid: $2,630
OpenAlex ID: W4388541466