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Inherited ovarian cancer (without breast cancer)

Gene: LLGL2

Amber List (moderate evidence)
LLGL2 (LLGL2, scribble cell polarity complex component)
EnsemblGeneIds (GRCh38): ENSG00000073350
EnsemblGeneIds (GRCh37): ENSG00000073350
LLGL2 is in 1 panel

3 reviews

Arina Puzriakova (Genomics England Curator)

The to_be_confirmed_NHSE tag has been added, as further NHSE review is required before changing the rating. Additional comments from reviewing GLHs: Appears to be an emerging gene for ovarian cancer - only one publication to date - rare, number of reported cases small, no data on penetrance, unclear of clinical utility regarding risk prediction / treatment recommendations
Created: 10 Dec 2025, 5:26 p.m. | Last Modified: 10 Dec 2025, 5:26 p.m.
Panel Version: 4.8
Created: 10 Dec 2025, 5:26 p.m.
Last Modified: 10 Dec 2025, 5:26 p.m.
Panel version: 4.8

Sarah Leigh (Genomics England Curator)

Green List (high evidence)

Subramanian et al (PMID: 39794353) have identified LLGL2 as a predisposition gene for high-grade serous ovarian carcinoma (HGSOC). Two inherited terminating LLGL2 variants were found in the germline of three cases with HGSOC. Exome sequencing of the tumour revealed that the wild type allele of LLGL2 was lost, fitting with the two-hit mechanism and resulting in biallelic inactivation of LLGL2 activity.
Created: 7 Apr 2025, 11:01 a.m. | Last Modified: 7 Apr 2025, 11:01 a.m.
Panel Version: 4.4

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Phenotypes
High-grade serous ovarian carcinoma

Created: 7 Apr 2025, 11:01 a.m.
Last Modified: 7 Apr 2025, 11:01 a.m.
Panel version: 4.4

Riyaad Aungraheeta (Bristol Genetics Laboratory)

I don't know

Sources: Literature
Created: 30 Jan 2025, 3:31 p.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Phenotypes
High-grade serous ovarian carcinoma

Publications

Created: 30 Jan 2025, 3:31 p.m.

Panel version: 4.3

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Amber
Phenotypes
  • High-grade serous ovarian carcinoma
Tags
to_be_confirmed_NHSE
Clinvar variants
Variants in LLGL2
Penetrance
unknown
Publications
Panels with this gene

History Filter Activity

10 Dec 2025, Gel status: 2

Removed Tag, Removed Tag, Added Tag

Arina Puzriakova (Genomics England Curator)

Tag Q2_25_ promote_green was removed from gene: LLGL2. Tag Q2_25_ NHS_review was removed from gene: LLGL2. Tag to_be_confirmed_NHSE tag was added to gene: LLGL2.

7 Apr 2025, Gel status: 2

Added Tag, Added Tag

Sarah Leigh (Genomics England Curator)

Tag Q2_25_ promote_green tag was added to gene: LLGL2. Tag Q2_25_ NHS_review tag was added to gene: LLGL2.

7 Apr 2025, Gel status: 2

Entity classified by Genomics England curator

Sarah Leigh (Genomics England Curator)

Gene: llgl2 has been classified as Amber List (Moderate Evidence).

30 Jan 2025, Gel status: 0

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes, Set penetrance

Riyaad Aungraheeta (Bristol Genetics Laboratory)

gene: LLGL2 was added gene: LLGL2 was added to Inherited ovarian cancer (without breast cancer). Sources: Literature Mode of inheritance for gene: LLGL2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: LLGL2 were set to 39794353 Phenotypes for gene: LLGL2 were set to High-grade serous ovarian carcinoma Penetrance for gene: LLGL2 were set to unknown Review for gene: LLGL2 was set to AMBER