DICER1 Loss-of-function

CI-VAR-00002542Explore in graph →CIViC 4543

Curated evidence

Evidence by cancer (6 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 1–6 of 6 evidence items across 3 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
Anaplastic Sarcoma of the Kidney2
DICER1 Loss-of-function	(predisposing)	Predisposing	B	Supports Predisposition	2	submitted	EID11473 Analysis of DICER1 mutations in tumor/normal pairs from pediatric patients (7 months to 13 yo) with anaplastic sarcoma of the kidney identified a somatic RNase IIIb DICER1 mutation in 8 of 9 cases (89… (full text at CIViC) PMID 28862265 · Wu et al., 2018 · Open in CIViC	civic
DICER1 RNase IIIb Mutation AND DICER1 Loss-of-function	(diagnostic)	Diagnostic	B	Supports Positive	4	submitted	EID11471 Analysis of DICER1 mutations in tumor/normal pairs from pediatric patients (7 months to 13 yo) with anaplastic sarcoma of the kidney identified at least 1 RNase IIIb DICER1 mutation in 8 of 9 cases (… (full text at CIViC) PMID 28862265 · Wu et al., 2018 · Open in 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.

Ovarian Gynandroblastoma2
DICER1 Loss-of-function	(predisposing)	Predisposing	A	Supports Predisposition	2	submitted	EID11479 In an analysis of 107 patients enrolled in the International Ovarian and Testicular Stromal Tumor Registry, 5 had gynandroblastoma (14-32 yo). 4 of the 4 gynandroblastoms with material available for … (full text at CIViC) PMID 29037807 · Schultz et al., 2017 · Open in CIViC	civic
DICER1 RNase IIIb Mutation AND DICER1 Loss-of-function	(diagnostic)	Diagnostic	B	Supports Positive	3	submitted	EID11478 In an analysis of 107 patients enrolled in the International Ovarian and Testicular Stromal Tumor Registry, 5 had gynandroblastoma (14-32 yo). 4 of the 4 gynandroblastoms with material available for … (full text at CIViC) PMID 29037807 · Schultz et al., 2017 · Open in CIViC	civic

Pituitary Gland Blastoma2
DICER1 RNase IIIb Mutation AND DICER1 Loss-of-function	(diagnostic)	Diagnostic	B	Supports Positive	3	submitted	EID11482 An analysis of 13 infants with pituitary blastoma (age 7-24 months) demonstrated recurrent DICER1 mutations. Of those with samples available for sequencing, 9 of 9 (100%) had germline DICER1 mutation… (full text at CIViC) PMID 24839956 · de Kock et al., 2014 · Open in CIViC	civic
DICER1 RNase IIIb Mutation AND DICER1 Loss-of-function	(diagnostic)	Diagnostic	B	Supports Positive	2	submitted	EID11483 This 2021 paper analyzed the outcomes and complications of 17 patients with pituitary blastoma. The median age of diagnosis was 11 months with a range of 2-24 months. Germline DICER1 variants were… (full text at CIViC) PMID 33236116 · Liu et al., 2021 · Open in CIViC	civic