Germline variants in cancer susceptibility genes among patients with mucosal melanoma
Afsaneh Amouzegar, Xiaogang Wu, James P Long, Gabriela W Chen, Justin W Wong, Sabitha Prabhakaran, Latasha Little, Curtis Gumbs, Neus Bota, Jared Malke, Julie Simon, Jianhua Zhang, Priyadharsini Nagarajan, Michael A Davies, Hussein Tawbi, Rodabe N Amaria, Isabella C Glitza Oliva, Alexandra P Ikeguch · 2026
Read Germline variants in cancer susceptibility genes among patients with mucosal melanoma by Afsaneh Amouzegar, Xiaogang Wu, James P Long, Gabriela W Chen, Justin W Wong, Sabitha Prabhakaran, Latasha Little, Curtis Gumbs, Neus Bota, Jared Malke, Julie Simon, Jianhua Zhang, Priyadharsini Nagarajan, Michael A Davies, Hussein Tawbi, Rodabe N Amaria, Isabella C Glitza Oliva, Alexandra P Ikeguch (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-13478063.txt.
Description
Afsaneh Amouzegar and colleagues sequenced in 2026 germline cancer genes in 346 mucosal melanoma patients treated at MD Anderson, comparing variant rates with population controls. Mucosal melanoma is rare and aggressive, and the role of inherited variants was poorly understood.
Inherited pathogenic variants appeared in 10.7 percent of patients, most often in CHEK2, ATM, and MITF. Two variants, MITF p.E318K and CHEK2 c.1100delC, were significantly enriched, with odds about six and seven times control rates. Variant carriers more often had two or more affected first-degree relatives. The findings support genetic testing in this population.
Catalog record
| CREATOR | Afsaneh Amouzegar, Xiaogang Wu, James P Long, Gabriela W Chen, Justin W Wong, Sabitha Prabhakaran, Latasha Little, Curtis Gumbs, Neus Bota, Jared Malke, Julie Simon, Jianhua Zhang, Priyadharsini Nagarajan, Michael A Davies, Hussein Tawbi, Rodabe N Amaria, Isabella C Glitza Oliva, Alexandra P Ikeguch |
|---|---|
| YEAR | 2026 |
| COLLECTION | PAPERS |
| FORMAT | TXT |
| FILE SIZE | 24 KB |
| VERSION | 1.0 |
| LICENSE | CC BY 4.0 |
| RIGHTS | CC BY |
| SOURCE | Europe PMC |