SMAD4 R361C

CI-VAR-00003837Explore in graph →CIViC 2851

Curated evidence

Evidence by cancer (3 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 1–3 of 3 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
Juvenile Polyposis Syndrome1unmapped disease
SMAD4 R361C	(predisposing)	Predisposing	C	Supports Predisposition	1	accepted	EID6446 The goal of this study was to find out if there was a link between the mutation of SMAD4 and Juvenile polyposis syndrome (JPS). Eight families of JPS were analyzed and there was no evidence of linkage… (full text at CIViC) PMID 9811934 · Houlston et al., 1998 · Open in CIViC	civic
Unmapped disease2unmapped disease
SMAD4 R361C	(functional)	Functional	D	Supports Loss Of Function	3	submitted	EID7680 Constructs containing SMAD4 mutations were introduced into MDA-MB468, a breast adenocarcinoma cell line with homozygous loss of SMAD4 and insensitivity to TGF-beta. A TGF-beta responsive luciferase re… (full text at CIViC)

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.