DICER1 Syndrome, cancer syndromes, CIViC Mine

[lschriml]

Jake Lever, CIViC Mine, has requested the addition of DICER1 syndrome.

-- reviewing this term request and the DO, I see the DO has pleuropulmonary blastoma (DOID:4769). Several other sources combine pleuropulmonary blastoma with DICER 1. However, DICER 1 is a syndrome

--> adding DICER 1 syndrome as a child of syndrome

DICER1 syndrome is an inherited disorder that increases the risk of different types of malignant and benign tumors. The syndrome is caused by mutations in the DICER1 gene, which is located on the long arm of chromosome 14, region q32.13. Patients with DICER1 syndrome commonly develop pleuropulmonary blastoma (PPB), multinodular goiter, ovarian Sertoli-Leydig cell tumors, and/or other types of tumors.

• a rare genetic disorder that predisposes individuals to multiple cancer types. Through mutations of the gene encoding the endoribonuclease, Dicer, DICER1 syndrome disrupts the biogenesis and processing of miRNAs with subsequent disruption in control of gene expression.

https://medlineplus.gov/genetics/condition/dicer1-syndrome/#resources https://pubmed.ncbi.nlm.nih.gov/31409088/ https://www.ncbi.nlm.nih.gov/labs/pmc/articles/PMC5977116/

(DOID:4769) [GARD:8757]. --> keep for pleuropulmonary blastoma ICDO:8973/3 [MESH:C537516] --> keep for pleuropulmonary blastoma

[NCI:C5669]--> keep for pleuropulmonary blastoma

[OMIM:601200] --> Move to DICER 1

add: ORDO:64742 to pleuropulmonary blastoma add: to DICER 1: synonym: PPB familial tumor susceptibility syndrome Pleuro-pulmonary blastoma familial tumor susceptibility Autosomal dominant inheritence

ORDO: 284343

[lschriml]

DO has been updated, DICER1 syndrome added.

[lschriml]

Synonyms to add:

Existing DOID	Name (and synonyms)
DOID:13636	Fanconi anemia
DOID:0050424	Familial adenomatous polyposis|Familial adenomatous polyposis (FAP)
DOID:5683	hereditary breast ovarian cancer syndrome|Hereditary breast and ovarian cancer
DOID:3883	Hereditary non-polyposis colon cancer syndrome|Hereditary non-polyposis colorectal cancer syndrome|Hereditary nonpolyposis colon cancer syndrome|Hereditary nonpolyposis colorectal cancer syndrome|Hereditary non-polyposis colon cancer|Hereditary non-polyposis colorectal cancer|Hereditary nonpolyposis colon cancer|Hereditary nonpolyposis colorectal cancer|Lynch syndrome|Lynch syndrome (hereditary non-polyposis colorectal cancer)
DOID:3012	Li-Fraumeni syndrome
DOID:0080411	MUTYH-associated polyposis
DOID:2512	Nevoid basal cell carcinoma syndrome
DOID:14175	Von Hippel-Lindau disease
DOID:0050427	Xeroderma pigmentosum
DOID:2717	Bloom syndrome
DOID:7400	Nijmegen breakage syndrome
DOID:5688	Werner syndrome
	DICER1 syndrome|PPB familial tumor susceptibility syndrome|Pleuro-pulmonary blastoma familial tumor susceptibility syndrome|Pleuropulmonary blastoma familial tumor susceptibility syndrome
DOID:6457	Cowden Syndrome
DOID:3125	Multiple endocrine neoplasia (MEN) syndrome|Multiple endocrine neoplasia syndrome
DOID:5683	Hereditary Breast and Ovarian Cancer (HBOC) syndrome|Hereditary Breast and Ovarian Cancer syndrome|Breast and Ovarian Cancer (HBOC) syndrome|Breast and Ovarian Cancer syndrome|HBOC syndrome
DOID:3852	Peutz-Jeghers syndrome
DOID:2732	Rothmund-Thomson syndrome

[allenbaron]

"MUTYH-associated polyposis" belongs to DOID:0080410 (familial adenomatous polyposis 2), not DOID:0080411 (familial adenomatous polyposis 3).