TSC1 Loss-of-function

CI-VAR-00002518Explore in graph →CIViC 125

Curated evidence

Evidence by cancer (5 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 1–5 of 5 evidence items across 4 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
Bladder Carcinoma1
TSC1 Loss-of-function	Everolimus	Predictive	B	Supports Sensitivity Response	3	accepted	EID155 Tumors (n=14) expressing TSC1 mutations (5/14) show notably more sensitivity to everolimus than their wild-type counterparts (9/14). A dramatic response was observed in a patient with combination of L… (full text at CIViC) PMID 22923433 · Iyer et al., 2012 · Open in CIViC	civic
Lung Adenocarcinoma1
KRAS G12D AND TSC1 Loss-of-function	Sirolimus	Predictive	D	Supports Sensitivity Response	3	accepted	EID154 Following rapamycin treatment of mice with KrasG12D-induced lung adenocarcinomas, mice with Tsc1 deletion (exon17/18 deletion resulting in frameshift) in the lung exhibit increased overall survival, i… (full text at CIViC) PMID 19966866 ·

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.

Renal Cell Carcinoma2
TSC1 Loss-of-function	MTOR Inhibitor	Predictive	B	Supports Sensitivity Response	3	submitted	EID5837 In a retrospective study of 79 RCC patients treated with diverse rapalogs (mTOR inhibitors) inactivating TSC1 and TSC2-mutations and activating MTOR-mutations were significantly more common in respons… (full text at CIViC) PMID 26831717 · Kwiatkowski et al., 2016 · Open in CIViC	civic
TSC1 Loss-of-function	MTOR Inhibitor	Predictive	C	Supports Sensitivity Response	2	submitted	EID6053 In 5 patients with renal cell carcinoma who achieved durable disease control with mTOR inhibitors (median duration, 28 months), Custom target capture and ultradeep sequencing was used to identify alt… (full text at CIViC) PMID 24622468 · Voss et al., 2014 · Open in CIViC	civic

Tuberous Sclerosis1unmapped disease
TSC1 Loss-of-function	Everolimus	Predictive	A	Supports Sensitivity Response	5	submitted	EID7280 In phase 3 trial patients with subependymal giant cell astrocytomas related to tuberous sclerosis complex (TSC) were randomly assigned to everolimus or placebo. Tumor response was observed 35% in ever… (full text at CIViC) PMID 23158522 · Franz et al., 2013 · Open in CIViC	civic