High incidence of occult familial SDHD cases amongst Czech patients with head and neck paragangliomas
Anasuya Guha, Ales Vicha, Tomas Zelinka, Martin Kana, Zdenek Musil, Karel Pacak, Jan Betka, Martin Chovanec, Jan Plzak, Jan Boucek · 2023
Read High incidence of occult familial SDHD cases amongst Czech patients with head and neck paragangliomas by Anasuya Guha, Ales Vicha, Tomas Zelinka, Martin Kana, Zdenek Musil, Karel Pacak, Jan Betka, Martin Chovanec, Jan Plzak, Jan Boucek (2023) 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-10739302.txt.
Description
Anasuya Guha and nine co-authors study inherited gene changes behind rare tumors of the head and neck in this 2023 paper. The tumors, called paragangliomas, are mostly benign. A gene named SDHD is the one most often mutated in families with the condition, yet the change can also appear when no family history is known, creating hidden familial cases.
The team analyzed one hundred five patients seen at two Czech centers between 2006 and 2021, and eighty were included in the final count. Only about twelve percent carried a germline SDHD change, lower than in many reports elsewhere. Roughly four in five of those carriers had no positive family history, and carriers more often had several tumors and were younger. One variant turned up in unrelated patients, though no founder effect was proven. The authors conclude the Czech mutation pattern differs from most countries studied.
Catalog record
| CREATOR | Anasuya Guha, Ales Vicha, Tomas Zelinka, Martin Kana, Zdenek Musil, Karel Pacak, Jan Betka, Martin Chovanec, Jan Plzak, Jan Boucek |
|---|---|
| YEAR | 2023 |
| COLLECTION | PAPERS |
| FORMAT | TXT |
| FILE SIZE | 27 KB |
| VERSION | 1.0 |
| LICENSE | CC BY 4.0 |
| RIGHTS | CC BY |
| SOURCE | Europe PMC |