Ovarian Sertoli-Leydig Cell Tumor — Variants & evidence

Loading cancer entity…

Therapy	Type	Level	Direction · significance	Rating (1–5)	Status	Evidence	Source
DICER1 D1709E1
(predisposing)	Predisposing	C	Supports Predisposition	2	accepted	EID5888 DICER1 mutations in the RNase IIIb domain were found in 29% of nonepithelial ovarian tumors (n=103) with high predominance in Sertoli-Lydig cell tumors (26/43; 60%). There were two mutations in D1709E… (full text at CIViC) PMID 22187960 · Heravi-Moussavi et al., 2012 · Open in CIViC	civic
DICER1 D1709G1
(predisposing)	Predisposing	C	Supports Predisposition	3	accepted	EID5887 DICER1 mutations in the RNase IIIb domain were found in 29% of nonepithelial ovarian tumors (n=103) with high predominance in Sertoli-Lydig cell tumors (26/43; 60%). There was one mutation in D1709G. PMID 22187960 · Heravi-Moussavi et al., 2012 · Open in CIViC	civic
DICER1 D1709N2
(diagnostic)	Diagnostic	B	Does Not Support Positive	4	accepted	EID5534 In this exploratory study of Sertoli-Leydig cell tumors, DICER1 mutations were found in over half of the samples sequenced, but were not found to have any role in tumorigenesis, contrary to what was p… (full text at CIViC) PMID 26428316 · Conlon et al., 2015 · Open in CIViC	civic
(predisposing)	Predisposing	B	Supports Predisposition	3	accepted	EID5886 DICER1 mutations in the RNase IIIb domain were found in 29% of nonepithelial ovarian tumors (n=103) with high predominance in Sertoli-Lydig cell tumors (26/43; 60%). There were ten mutations in D1709N… (full text at CIViC) PMID 22187960 · Heravi-Moussavi et al., 2012 · Open in CIViC	civic
DICER1 D1810H1
(predisposing)	Predisposing	C	Supports Predisposition	2	submitted	EID5889 DICER1 mutations in the RNase IIIb domain were found in 29% of nonepithelial ovarian tumors (n=103) with high predominance in Sertoli-Lydig cell tumors (26/43; 60%). There was one mutation in D1810H. PMID 22187960 · Heravi-Moussavi et al., 2012 · Open in CIViC	civic
DICER1 D1810N1
(oncogenic)	Oncogenic	C	Supports Oncogenicity	1	submitted	EID5891 DICER1 mutations in the RNase IIIb domain were found in 29% of nonepithelial ovarian tumors (n=103) with high predominance in Sertoli-Lydig cell tumors (26/43; 60%). There was one mutation in D1810N. PMID 22187960 · Heravi-Moussavi et al., 2012 · Open in CIViC	civic
DICER1 D1810Y1
(oncogenic)	Oncogenic	C	Supports Oncogenicity	1	submitted	EID5890 DICER1 mutations in the RNase IIIb domain were found in 29% of nonepithelial ovarian tumors (n=103) with high predominance in Sertoli-Lydig cell tumors (26/43; 60%).Two Sertoli-Lydig cell tumors harbo… (full text at CIViC) PMID 22187960 · Heravi-Moussavi et al., 2012 · Open in CIViC	civic
DICER1 E1705K2
(diagnostic)	Diagnostic	B	Supports Positive	4	accepted	EID5533 Sanger sequencing identified DICER1 hotspot mutations in 20 of 32 (63%) ovarian Sertoli–Leydig cell tumors. These mutations were unrelated to tumor differentiation and mostly (16/20, 80%) were E1705K.… (full text at CIViC) PMID 26428316 · Conlon et al., 2015 · Open in CIViC	civic
(predisposing)	Predisposing	B	Supports Predisposition	3	submitted	EID5885 DICER1 mutations in the RNase IIIb domain were found in 29% of nonepithelial ovarian tumors (n=103) with high predominance in Sertoli-Lydig cell tumors (26/43; 60%). There were five mutations in E1705… (full text at CIViC) PMID 22187960 · Heravi-Moussavi et al., 2012 · Open in CIViC	civic
DICER1 E1813G1
(oncogenic)	Oncogenic	C	Supports Oncogenicity	1	submitted	EID5893 DICER1 mutations in the RNase IIIb domain were found in 29% of nonepithelial ovarian tumors (n=103) with high predominance in Sertoli-Lydig cell tumors (26/43; 60%). There was one mutation in E1813G. PMID 22187960 · Heravi-Moussavi et al., 2012 · Open in CIViC	civic
DICER1 E1813K1
(oncogenic)	Oncogenic	C	Supports Oncogenicity	1	submitted	EID5894 DICER1 mutations in the RNase IIIb domain were found in 29% of nonepithelial ovarian tumors (n=103) with high predominance in Sertoli-Lydig cell tumors (26/43; 60%). There was one mutation in E1813K. PMID 22187960 · Heravi-Moussavi et al., 2012 · Open in CIViC	civic
DICER1 E1813Q2
(diagnostic)	Diagnostic	B	Does Not Support Positive	4	accepted	EID5535 In this exploratory study of Sertoli-Leydig cell tumors, DICER1 mutations were found in over half of the samples sequenced, but were not found to have any role in tumorigenesis, contrary to what was p… (full text at CIViC) PMID 26428316 · Conlon et al., 2015 · Open in CIViC	civic
(oncogenic)	Oncogenic	C	Supports Oncogenicity	1	accepted	EID5892 DICER1 mutations in the RNase IIIb domain were found in 29% of nonepithelial ovarian tumors (n=103) with high predominance in Sertoli-Lydig cell tumors (26/43; 60%). There were two patients with E1813… (full text at CIViC) PMID 22187960 · Heravi-Moussavi et al., 2012 · Open in CIViC	civic
DICER1 G1809R1
(diagnostic)	Diagnostic	C	Supports Positive	2	submitted	EID12324 Sanger sequencing identified DICER1 hotspot mutations in 20 of 32 (63%) ovarian Sertoli–Leydig cell tumors. These mutations were unrelated to tumor differentiation and mostly (16/20, 80%) were E1705K.… (full text at CIViC) PMID 26428316 · Conlon et al., 2015 · Open in CIViC	civic
DICER1 RNase IIIb Mutation2
(diagnostic)	Diagnostic	B	Supports Positive	4	submitted	EID13129 A sequencing analysis of the DICER1 RNase IIIb region in nonepithelial ovarian neoplasms revealed a striking concentration of somatic mutations at residues required for metal binding within the cataly… (full text at CIViC) PMID 22187960 · Heravi-Moussavi et al., 2012 · Open in CIViC	civic
(oncogenic)	Oncogenic	D	Supports Oncogenicity	4	submitted	EID13130 Somatic missense alterations repeatedly affecting the metal-coordinating residues of the DICER1 RNase IIIb domain, particularly E1705, D1709, D1810, and E1813, were found across nonepithelial ovarian … (full text at CIViC) PMID 22187960 · Heravi-Moussavi et al., 2012 · Open in CIViC	civic

Therapy

Type

Level

Direction · significance

Rating (1–5)

Status

Evidence

Source

DICER1 D1709E1

(predisposing)

Predisposing

Supports Predisposition

accepted

EID5888

DICER1 mutations in the RNase IIIb domain were found in 29% of nonepithelial ovarian tumors (n=103) with high predominance in Sertoli-Lydig cell tumors (26/43; 60%). There were two mutations in D1709E… (full text at CIViC)

PMID 22187960 · Heravi-Moussavi et al., 2012 · Open in CIViC

civic

DICER1 D1709G1

(predisposing)

Predisposing

Supports Predisposition

accepted

EID5887

DICER1 mutations in the RNase IIIb domain were found in 29% of nonepithelial ovarian tumors (n=103) with high predominance in Sertoli-Lydig cell tumors (26/43; 60%). There was one mutation in D1709G.

PMID 22187960 · Heravi-Moussavi et al., 2012 · Open in CIViC

civic

DICER1 D1709N2

(diagnostic)

Diagnostic

Does Not Support Positive

accepted

EID5534

In this exploratory study of Sertoli-Leydig cell tumors, DICER1 mutations were found in over half of the samples sequenced, but were not found to have any role in tumorigenesis, contrary to what was p… (full text at CIViC)

PMID 26428316 · Conlon et al., 2015 · Open in CIViC

civic

(predisposing)

Predisposing

Supports Predisposition

accepted

EID5886

PMID 22187960 · Heravi-Moussavi et al., 2012 · Open in CIViC

civic

DICER1 D1810H1

(predisposing)

Predisposing

Supports Predisposition

submitted

EID5889

DICER1 mutations in the RNase IIIb domain were found in 29% of nonepithelial ovarian tumors (n=103) with high predominance in Sertoli-Lydig cell tumors (26/43; 60%). There was one mutation in D1810H.

PMID 22187960 · Heravi-Moussavi et al., 2012 · Open in CIViC

civic

DICER1 D1810N1

(oncogenic)

Oncogenic

Supports Oncogenicity

submitted

EID5891

DICER1 mutations in the RNase IIIb domain were found in 29% of nonepithelial ovarian tumors (n=103) with high predominance in Sertoli-Lydig cell tumors (26/43; 60%). There was one mutation in D1810N.

PMID 22187960 · Heravi-Moussavi et al., 2012 · Open in CIViC

civic

DICER1 D1810Y1

(oncogenic)

Oncogenic

Supports Oncogenicity

submitted

EID5890

DICER1 mutations in the RNase IIIb domain were found in 29% of nonepithelial ovarian tumors (n=103) with high predominance in Sertoli-Lydig cell tumors (26/43; 60%).Two Sertoli-Lydig cell tumors harbo… (full text at CIViC)

PMID 22187960 · Heravi-Moussavi et al., 2012 · Open in CIViC

civic

DICER1 E1705K2

(diagnostic)

Diagnostic

Supports Positive

accepted

EID5533

Sanger sequencing identified DICER1 hotspot mutations in 20 of 32 (63%) ovarian Sertoli–Leydig cell tumors. These mutations were unrelated to tumor differentiation and mostly (16/20, 80%) were E1705K.… (full text at CIViC)

PMID 26428316 · Conlon et al., 2015 · Open in CIViC

civic

(predisposing)

Predisposing

Supports Predisposition

submitted

EID5885

PMID 22187960 · Heravi-Moussavi et al., 2012 · Open in CIViC

civic

DICER1 E1813G1

(oncogenic)

Oncogenic

Supports Oncogenicity

submitted

EID5893

DICER1 mutations in the RNase IIIb domain were found in 29% of nonepithelial ovarian tumors (n=103) with high predominance in Sertoli-Lydig cell tumors (26/43; 60%). There was one mutation in E1813G.

PMID 22187960 · Heravi-Moussavi et al., 2012 · Open in CIViC

civic

DICER1 E1813K1

(oncogenic)

Oncogenic

Supports Oncogenicity

submitted

EID5894

DICER1 mutations in the RNase IIIb domain were found in 29% of nonepithelial ovarian tumors (n=103) with high predominance in Sertoli-Lydig cell tumors (26/43; 60%). There was one mutation in E1813K.

PMID 22187960 · Heravi-Moussavi et al., 2012 · Open in CIViC

civic

DICER1 E1813Q2

(diagnostic)

Diagnostic

Does Not Support Positive

accepted

EID5535

PMID 26428316 · Conlon et al., 2015 · Open in CIViC

civic

(oncogenic)

Oncogenic

Supports Oncogenicity

accepted

EID5892

PMID 22187960 · Heravi-Moussavi et al., 2012 · Open in CIViC

civic

DICER1 G1809R1

(diagnostic)

Diagnostic

Supports Positive

submitted

EID12324

PMID 26428316 · Conlon et al., 2015 · Open in CIViC

civic

DICER1 RNase IIIb Mutation2

(diagnostic)

Diagnostic

Supports Positive

submitted

EID13129

A sequencing analysis of the DICER1 RNase IIIb region in nonepithelial ovarian neoplasms revealed a striking concentration of somatic mutations at residues required for metal binding within the cataly… (full text at CIViC)

PMID 22187960 · Heravi-Moussavi et al., 2012 · Open in CIViC

civic

(oncogenic)

Oncogenic

Supports Oncogenicity

submitted

EID13130

Somatic missense alterations repeatedly affecting the metal-coordinating residues of the DICER1 RNase IIIb domain, particularly E1705, D1709, D1810, and E1813, were found across nonepithelial ovarian … (full text at CIViC)

PMID 22187960 · Heravi-Moussavi et al., 2012 · Open in CIViC

civic

Curated clinical evidence by variant and therapy