Familial melanoma

ORPHA:618DiseaseAutosomal dominant, Multigenic/multifactorialAdult

Ассоциированные гены11

Ген	Полное название	Тип связи	Тип гена	OMIM
CDK4	cyclin dependent kinase 4	Major susceptibility factor in	gene with protein product	123829
CDKN2A	cyclin dependent kinase inhibitor 2A	Major susceptibility factor in	gene with protein product	600160
MITF	melanocyte inducing transcription factor	Major susceptibility factor in	gene with protein product	156845
TERT	telomerase reverse transcriptase	Major susceptibility factor in	gene with protein product	187270
MC1R	melanocortin 1 receptor	Major susceptibility factor in	gene with protein product	155555
BAP1	BRCA1 associated deubiquitinase 1	Major susceptibility factor in	gene with protein product	603089
CDKN2B	cyclin dependent kinase inhibitor 2B	Candidate gene tested in	gene with protein product	600431
MGMT	O-6-methylguanine-DNA methyltransferase	Major susceptibility factor in	gene with protein product	156569
POT1	protection of telomeres 1	Major susceptibility factor in	gene with protein product	606478
ACD	ACD shelterin complex subunit and telomerase recruitment factor	Major susceptibility factor in	gene with protein product	609377
TERF2IP	TERF2 interacting protein	Major susceptibility factor in	gene with protein product	605061

Очень частый (80–99%)2

HP:0002861Melanoma

HP:0003764Nevus

Частый (30–79%)4

HP:0000958Dry skin

HP:0001480Freckling

HP:0001595Abnormality of the hair

HP:0100763Abnormality of the lymphatic system

Периодический (5–29%)5

HP:0000488Retinopathy

HP:0002071Abnormality of extrapyramidal motor function

HP:0002894Neoplasm of the pancreas

HP:0006753Neoplasm of the stomach

HP:0100013Neoplasm of the breast

Тип оценки	Класс распространённости	Среднее (на 100к)	Регион	Квалификация
Annual incidence	1-9 / 100 000	1.5	Europe	Value and class
Point prevalence	Unknown	—	Worldwide	Class only

Источник: Open Targets Platform (в реальном времени)

Источник: ClinicalTrials.gov (в реальном времени)