Peritoneal washing is an adequate source for somatic BRCA1/2 mutation testing in ovarian malignancies
| Autor: | Eva Tejerina González, Marta Colmena, Constanza Maximiano, Maria Torrente, Mariano Provencio, Lourdes Gutiérrez, Atocha Romero, Miguel Barquín, Estela Sánchez-Herrero, Clara Pérez-Barrios, Manuel García-Espantaleón, Antonio Carlos Sánchez Ruiz, María Soriano |
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| Rok vydání: | 2019 |
| Předmět: |
0301 basic medicine
endocrine system diseases Somatic cell DNA Mutational Analysis Germline Pathology and Forensic Medicine 03 medical and health sciences 0302 clinical medicine Breast cancer Biomarkers Tumor medicine Humans Peritoneal Lavage skin and connective tissue diseases BRCA2 Protein Ovarian Neoplasms BRCA1 Protein business.industry BRCA mutation Cell Biology medicine.disease Peritoneal washing Cystadenocarcinoma Serous 030104 developmental biology medicine.anatomical_structure 030220 oncology & carcinogenesis Mutation testing Cancer research Female Ovarian cancer business Fallopian tube |
| Zdroj: | Pathology - Research and Practice. 215:392-394 |
| ISSN: | 0344-0338 |
| DOI: | 10.1016/j.prp.2018.10.028 |
| Popis: | Genetic screening for BRCA mutations should be offered to all women diagnosed with epithelial ovarian, fallopian tube, and/or peritoneal cancers given the implications for treatment options and cancer risk assessments. Yet, while germline breast cancer susceptibility gene 1 (BRCA1) and breast cancer susceptibility gene 2 (BRCA2) testing is commonly performed, BRCA1/2 somatic mutations testing is rather challenging since the poor quality of DNA extracted from formalin fixed paraffin embedded (FFPE) samples can significantly impair this process. Peritoneal lavage is routinely performed in surgeries of suspected ovarian malignancies. We have analyzed fresh tumor, peritoneal lavage and blood samples from ten patients and we have found an excellent agreement (88%) between fresh tumor and peritoneal lavage for BRCA mutation testing. Importantly, 112 of the 114 genomic alterations detected in fresh tumor samples were also found in peritoneal lavage fluids. Our data suggest that peritoneal washings can indeed streamline BRCA genes mutation testing procedures. |
| Databáze: | OpenAIRE |
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