SMAD family member 3 (SMAD3) is a gene that encodes a SMAD protein that functions as a signal transducer and transcriptional modulator. Missense mutations, nonsense mutations, silent mutations, and frameshift insertions are observed in cancers such as genital tract cancer, intestinal cancer, and peritoneal cancer.
SMAD3 is altered in 0.93% of all cancers with colon adenocarcinoma, pancreatic adenocarcinoma, rectal adenocarcinoma, colorectal adenocarcinoma, and lung adenocarcinoma having the greatest prevalence of alterations .
The most common alterations in SMAD3 are SMAD3 Mutation (0.93%), SMAD3 Loss (0.15%), SMAD3 Amplification (0.06%), SMAD3 R268C (0.03%), and SMAD3 R287W (0.03%) .
2. The UniProt Consortium. UniProt: a worldwide hub of protein knowledge. Nucleic Acids Research. 2019;47:D506-D515.
3. The AACR Project GENIE Consortium. AACR Project GENIE: powering precision medicine through an international consortium. Cancer Discovery. 2017;7(8):818-831. Dataset Version 8. This dataset does not represent the totality of the genetic landscape; see paper for more information.