Familial Melanoma

Table of contents:

Description
Related genes
Clinical Features
Incidence and onset information
Alternative Names
Researches and researchers
Gene Panels
Sources and references

Description

Familial melanoma (FM) is a rare inherited form of melanoma characterized by development of histologically confirmed melanoma in two first degrees relatives or more relatives in an affected family.

Genes related to Familial Melanoma

POT1
BAP1
MITF
TERT
CDK4
CDKN2A
MGMT
TERF2IP
MC1R
CDKN2D
ACD
CDKN2B

View recommended genes panels

Clinical Features

Top most frequent phenotypes and symptoms related to Familial Melanoma

Retinopathy
Dry skin
Nevus
Abnormality of extrapyramidal motor function
Abnormality of the hair
Melanoma
Freckling
Neoplasm of the pancreas
Abnormality of the lymphatic system
Neoplasm of the breast

And another 1 symptoms. If you need more information about this disease we can help you.

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Incidence and onset information

— Based on the latest data available FAMILIAL MELANOMA have a estimated incidence of 1.5 per 100k worldwide.
— No data available about the known clinical features onset.

Researches and researchers

Currently, we don't have any information about doctors, researches or researchers related to this disease. Please contact us if you would like to appear here.

Familial Melanoma Recommended genes panels

Panel Name, Specifity and genes Tested/covered
Tier 1: Hereditary Lymphoma and Immunodeficiency Panel. By Genetic Services Laboratory University of Chicago (United States). TP53, POT1, TERF2IP, ACD, KLHDC8B, MLH1, MSH2, MSH6, NPAT, PMS2 Specificity 30 % Genes 25 %
Inherited Bone Marrow Failure Sequencing Panel. By Genetic Services Laboratory University of Chicago (United States). RPL11, RPL15, RPL26, RPL35A, RPL5, RPS10, RPS19, RPS24, RPS26, RPS7, RUNX1, BRCA2, SRP72, TERC, TERT, TINF2, WAS, XRCC2, SAMD9, SAMD9L , (...) View the complete list with 41 more genes Panel complete gene list RPL11, RPL15, RPL26, RPL35A, RPL5, RPS10, RPS19, RPS24, RPS26, RPS7, RUNX1, BRCA2, SRP72, TERC, TERT, TINF2, WAS, XRCC2, SAMD9, SAMD9L, NHP2, NOP10, VPS45, RTEL1, HAX1, POT1, SBDS, BRIP1, FANCL, SBF2, FANCM, SLX4, CSF3R, G6PC3, ACD, NAF1, WRAP53, FANCI, CXCR4, USB1, PALB2, CTC1, DNAJC21, DKC1, ELANE, ERCC4, FANCA, FANCB, FANCC, FANCD2, FANCE, FANCF, FANCG, ALAS2, GATA1, GATA2, GFI1, MPL, PARN, RAD51C, RBM8A Specificity 5 % Genes 25 %
Comprehensive Telomere Biology Disorder/Dyskeratosis Congenita Panel. By Genetic Services Laboratory University of Chicago (United States). TERC, TERT, TINF2, NHP2, NOP10, RTEL1, POT1, ACD, NAF1, WRAP53, USB1, CTC1, DKC1, PARN Specificity 22 % Genes 25 %
Hereditary Melanoma Sequencing Panel. By Genetic Services Laboratory University of Chicago (United States). BRCA1, BRCA2, TP53, WRN, POT1, CDK4, CDKN2A, ACD, MC1R, POLE, BAP1 Specificity 55 % Genes 50 %
Hereditary Myeloid Malignancy and Inherited Bone Marrow Failure Panel. By Genetic Services Laboratory University of Chicago (United States). RPL11, RPL15, RPL26, RPL35A, RPL5, RPS10, RPS19, RPS24, RPS26, RPS7, RUNX1, BLM, BRCA1, BRCA2, SRP72, TERC, TERT, TINF2, TP53, WAS , (...) View the complete list with 58 more genes Panel complete gene list RPL11, RPL15, RPL26, RPL35A, RPL5, RPS10, RPS19, RPS24, RPS26, RPS7, RUNX1, BLM, BRCA1, BRCA2, SRP72, TERC, TERT, TINF2, TP53, WAS, IKZF1, SAMD9, SAMD9L, NHP2, NOP10, VPS45, CBL, RTEL1, HAX1, POT1, CEBPA, SBDS, BRIP1, FANCL, SBF2, SLX4, CSF3R, G6PC3, UBE2T, ACD, NAF1, WRAP53, FANCI, CXCR4, USB1, PALB2, CTC1, DNAJC21, DKC1, ANKRD26, ELANE, ERCC4, ETV6, FANCA, FANCB, FANCC, FANCD2, FANCE, FANCF, FANCG, ALAS2, GATA1, GATA2, GFI1, MLH1, MPL, MSH2, MSH6, NBN, NF1, ATM, PARN, PAX5, PMS2, PTPN11, RAD51, RAD51C, RBM8A Specificity 4 % Genes 25 %
BrainTumorNext. By Ambry Genetics (United States). SMARCA4, SMARCB1, SMARCE1, TP53, TSC1, TSC2, VHL, SUFU, DICER1, POT1, CDKN1B, CDKN2A, AIP, ALK, APC, MEN1, MLH1, MSH2, MSH6, NBN , (...) View the complete list with 7 more genes Panel complete gene list SMARCA4, SMARCB1, SMARCE1, TP53, TSC1, TSC2, VHL, SUFU, DICER1, POT1, CDKN1B, CDKN2A, AIP, ALK, APC, MEN1, MLH1, MSH2, MSH6, NBN, NF1, NF2, PMS2, PHOX2B, PRKAR1A, PTCH1, PTEN Specificity 8 % Genes 17 %
CancerNext-Expanded. By Ambry Genetics (United States). BLM, SDHA, SDHB, SDHC, SDHD, BMPR1A, BRCA1, BRCA2, SMARCA4, SMARCB1, SMARCE1, STK11, EPCAM, TP53, TSC1, TSC2, VHL, XRCC2, SUFU, DICER1 , (...) View the complete list with 43 more genes Panel complete gene list BLM, SDHA, SDHB, SDHC, SDHD, BMPR1A, BRCA1, BRCA2, SMARCA4, SMARCB1, SMARCE1, STK11, EPCAM, TP53, TSC1, TSC2, VHL, XRCC2, SUFU, DICER1, POT1, CDH1, CDK4, CDKN1B, CDKN2A, GALNT12, GREM1, BRIP1, SDHAF2, TMEM127, PALB2, FLCN, FANCC, FH, HOXB13, SMAD4, MAX, MEN1, MET, MITF, MLH1, MRE11, MSH2, MSH6, MUTYH, NBN, NF1, NF2, ATM, PMS2, PHOX2B, POLD1, POLE, PRKAR1A, BAP1, BARD1, PTCH1, PTEN, RAD50, RAD51C, RAD51D, RB1, RET Specificity 8 % Genes 42 %
CustomNext: Cancer. By Ambry Genetics (United States). BLM, SDHA, SDHB, SDHC, SDHD, BMPR1A, BRCA1, BRCA2, SMARCA4, SMARCB1, SMARCE1, STK11, EPCAM, TP53, TSC1, TSC2, VHL, XRCC2, SUFU, DICER1 , (...) View the complete list with 47 more genes Panel complete gene list BLM, SDHA, SDHB, SDHC, SDHD, BMPR1A, BRCA1, BRCA2, SMARCA4, SMARCB1, SMARCE1, STK11, EPCAM, TP53, TSC1, TSC2, VHL, XRCC2, SUFU, DICER1, POT1, CDH1, CDK4, CDKN1B, CDKN2A, GALNT12, GREM1, BRIP1, SDHAF2, TMEM127, PALB2, FLCN, AIP, FANCC, FH, ALK, HOXB13, APC, SMAD4, MAX, MEN1, MET, MITF, MLH1, MRE11, MSH2, MSH6, MUTYH, NBN, NF1, NF2, ATM, NTHL1, PMS2, PHOX2B, POLD1, POLE, PRKAR1A, BAP1, BARD1, PTCH1, PTEN, RAD50, RAD51C, RAD51D, RB1, RET Specificity 8 % Genes 42 %

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Sources and references

You can check the following sources for additional information.

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