High- and Moderate-Risk Variants Among Breast Cancer Patients and Healthy Donors Enrolled in Multigene Panel Testing in a Population of Central Russia
Syuykum Shumilova, Anastasia Danishevich, Sergey Nikolaev, George Krasnov, Anna Ikonnikova, Darya Isaeva, Sergei Surzhikov, Alexander Zasedatelev, Natalia Bodunova, Tatiana Nasedkina · 2024
Read High- and Moderate-Risk Variants Among Breast Cancer Patients and Healthy Donors Enrolled in Multigene Panel Testing in a Population of Central Russia by Syuykum Shumilova, Anastasia Danishevich, Sergey Nikolaev, George Krasnov, Anna Ikonnikova, Darya Isaeva, Sergei Surzhikov, Alexander Zasedatelev, Natalia Bodunova, Tatiana Nasedkina (2024) in the Tower of Babel, a free online library of public-domain works preserved in clean, searchable text. No sign-up. The full text is served as a plain-text file at a predictable URL, where text is present: https://antarctic-labs.com/tower-of-babel/pmc-11641773.txt.
Description
Syuykum Shumilova and colleagues sequence seventy-eight DNA repair genes in women from Central Russia to draw the region's breast cancer risk map, in this study from twenty twenty-four. Eight hundred sixty patients and five hundred twenty matched controls were tested. Two thirds of the patients were fifty or younger at diagnosis.
Twenty-two percent of patients carried a harmful variant, across thirty genes, against six percent of controls. The famous genes dominated the risk: BRCA1 carriers had about sixteen times the odds, BRCA2 about twelve, and ATM about seven. The team also found variants never described before, including in BRCA1, BRCA2, and PALB2, plus fresh evidence for several lesser genes. Three suspected genes showed no link at all. For patients, a find changes management; for healthy carriers, it opens prevention. The authors supply the missing Central Russian numbers for panel testing.
Catalog record
| CREATOR | Syuykum Shumilova, Anastasia Danishevich, Sergey Nikolaev, George Krasnov, Anna Ikonnikova, Darya Isaeva, Sergei Surzhikov, Alexander Zasedatelev, Natalia Bodunova, Tatiana Nasedkina |
|---|---|
| YEAR | 2024 |
| COLLECTION | PAPERS |
| FORMAT | TXT |
| FILE SIZE | 49 KB |
| VERSION | 1.0 |
| LICENSE | CC BY 4.0 |
| RIGHTS | CC BY |
| SOURCE | Europe PMC |