SMAD4 Mutation

CI-VAR-00002656Explore in graph →CIViC 216

Curated evidence

Evidence by cancer (4 items)

Grouped by cancer context first, then therapy. The same variant can be sensitizing in one cancer and irrelevant in another — contexts are never merged. 50 items per page; a cancer group may continue on the next page.

civicCuratedShowing 1–4 of 4 evidence items across 2 cancer contexts on this page · levels, directions and significance as curated at the source; each row links to its CIViC record.

Molecular profile	Therapy	Type	Level	Direction · significance	Rating (1–5)	Status	Evidence	Source
Malignant Colorectal Neoplasm3
SMAD4 Mutation	(prognostic)	Prognostic	B	Supports Poor Outcome	3	submitted	EID6451 Sequence analysis between normal vs. tumor samples showed the presence of 4 missense mutations and a somatic 12–base pair deletion in 16% of the 31 colorectal cancer (CRC) patients. The results of thi… (full text at CIViC) PMID 8898652 · Takagi et al., 1996 · Open in CIViC	civic
SMAD4 Mutation	Cetuximab + PanitumumabSubstitutes	Predictive	B	Supports Resistance	2	accepted	EID719 In a retrospective analysis of 65 patients with metastatic colorectal cancer, SMAD4 mutations were more common among patients with no benefit from EGFR-inhibition (cetuximab or panitumumab) (4 patient… (full text at CIViC) PMID 26508446 · Lupini et al., 2015 ·

ClinVar

Clinical significance (0)

ClinVar interpretations are shown as structured records — significance, review status, star rating, conditions — never flattened into one word.

Data not yet available

No ClinVar interpretation attached to this variant.

Pancreatic Adenocarcinoma1
SMAD4 Mutation	(prognostic)	Prognostic	B	Supports Poor Outcome	3	accepted	EID511 In a study of 89 patients with adenocarcinoma of the pancreas who underwent a pancreaticoduodenectomy, those with mutations in SMAD4 had shorter overall survival than wild-type patients. PMID 19584151 · Blackford et al., 2009 · Open in CIViC	civic