Familial Melanoma

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.

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.


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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
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
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
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
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
Specificity
8 %
Genes
42 %

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Sources and references

You can check the following sources for additional information.

ORPHANET Genetic Syndrome Finder

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