RARE-27. DOUBLE MUTATIONS: DIFFERENT GERMLINE AND TUMOR MUTATIONS LEAD TO POOR OUTCOMES

Two different KIT mutations may lead to different responses to imatinib in metastatic gastrointestinal stromal tumor

Copyright © 2018 The Korean Association of Internal Medicine This is an Open Access article distributed under the terms of the Creative Commons Attribution Non-Commercial License (http://creativecommons.org/licenses/ by-nc/4.0/) which permits unrestricted noncommercial use, distribution, and reproduction in any medium, provided the original work is properly cited. pISSN 1226-3303 eISSN 2005-664...

STAT3-enhancing germline mutations contribute to tumor-extrinsic immune evasion.

Immune evasion and the suppression of antitumor responses during cancer progression are considered hallmarks of cancer and are typically attributed to tumor-derived factors. Although the molecular basis for the crosstalk between tumor and immune cells is an area of active investigation, whether host-specific germline variants can dictate immunosuppressive mechanisms has remained a challenge to ...

Germline PTEN mutations are rare and highly penetrant

Cowden syndrome (multiple hamartoma syndrome, MIM 158350) is an early onset syndrome characterized by multiple hamartomas in the skin, mucous membranes, breast, thyroid and endometrium. Patients with Cowden syndrome have increased risk of breast cancer, thyroid cancer and endometrial cancer. In 1997 germline mutations in PTEN were demonstrated to cause Cowden syndrome. We report the results of ...

Germline Mutations Impair

GATA2 Germline Mutations Impair