22 October 2022
: Case report 
Association Between Parafibromin Expression and Presence of Brown Tumors and Jaw Tumors in Patients with Primary Hyperparathyroidism: Series of Cases with Review of the Literature
Challenging differential diagnosis, Unusual setting of medical care, Rare disease, Congenital defects / diseases, Educational Purpose (only if useful for a systematic review or synthesis), Rare coexistence of disease or pathology
Michał Popow1ABCDEF, Monika Kaszczewska12ABCDEF, Magdalena Góralska1BCD, Piotr Kaszczewski2BCDEF*, Agata Skwarek-Szewczyk
1BCD, Witold Chudziński 2BD, Krystian Jażdżewski34BCD, Monika Kolanowska3BCD, Magdalena Bogdańska5BCD, Aleksandra Starzyńska-Kubicka 5BCD, Zbigniew Gałązka2EF
DOI: 10.12659/AJCR.936135
Am J Case Rep 2022; 23:e936135
Table 3. Results of genetic testing.
| ID | Gene | Warrant | Localization | Amino acid change | Zygosity of warrant | Appearance in Europe | Mutation | Pathogenicity |
|---|---|---|---|---|---|---|---|---|
| 1 | CDC73/HRPT2 | ENST00000367435 c.616delA | Ekson7_17 | pThr206fs | Heterozygotic | No data | Germline | Pathogenic |
| 2 | CDC73/HRPT2 | ENST00000367435 c.1240_1255del | Ekson_14/17 | pPro414fs | Heterozygotic | No data | Germline | Pathogenic |
| 3 | – | – | – | – | – | – | No germline and no somatic mutation | – |
| 4 | MEN1 | NM_130799 c791T>C | Ekson5_10 | pLeu264Pro | Heterozygotic | No data | Germline | Potentially Pathogenic Clinically Pathogenic |