Updated ENIGMA recommendations for reporting germline variants in cancer susceptibility genes and their translation into twenty languages
Arcangela De Nicolo, Diana M Eccles, Kirsimari Aaltonen, Pia Alhopuro, Sarah Louise Ariansen, Michela Biancolella, Sandrine M Caputo, Olivier Caron, Pietro Cavalli, Jianbang Chiang, Kathleen B M Claes, Edgar Christian S Cuaresma, Miguel de la Hoya, Antoine De Pauw, Orland Díez, Mev Domínguez-Valenti · 2026
Read Updated ENIGMA recommendations for reporting germline variants in cancer susceptibility genes and their translation into twenty languages by Arcangela De Nicolo, Diana M Eccles, Kirsimari Aaltonen, Pia Alhopuro, Sarah Louise Ariansen, Michela Biancolella, Sandrine M Caputo, Olivier Caron, Pietro Cavalli, Jianbang Chiang, Kathleen B M Claes, Edgar Christian S Cuaresma, Miguel de la Hoya, Antoine De Pauw, Orland Díez, Mev Domínguez-Valenti (2026) 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-13539853.txt.
Description
Arcangela De Nicolo and a large consortium present 2026 guidance on how labs should word reports of inherited cancer-risk variants. Gene tests guide prevention, yet loose wording can mislead doctors and families. The ENIGMA network, a world group for such variants, sets a shared word list and a report frame, with breast cancer genes as the worked case. The update refreshes the earlier advice to match new proof.
The guidance now appears in twenty languages, so clinics worldwide can use the same terms. Clear terms help families grasp what a result does and does not say. Standard words also let data pool cleanly across borders. Variant reports are a safety tool, not a formality, in the group's view.
Catalog record
| CREATOR | Arcangela De Nicolo, Diana M Eccles, Kirsimari Aaltonen, Pia Alhopuro, Sarah Louise Ariansen, Michela Biancolella, Sandrine M Caputo, Olivier Caron, Pietro Cavalli, Jianbang Chiang, Kathleen B M Claes, Edgar Christian S Cuaresma, Miguel de la Hoya, Antoine De Pauw, Orland Díez, Mev Domínguez-Valenti |
|---|---|
| YEAR | 2026 |
| COLLECTION | PAPERS |
| FORMAT | TXT |
| FILE SIZE | 21 KB |
| VERSION | 1.0 |
| LICENSE | CC BY 4.0 |
| RIGHTS | CC BY |
| SOURCE | Europe PMC |