Familial Atypical Multiple Mole Melanoma Syndrome

Description

Familial atypical multiple mole melanoma (FAMMM) syndrome is an inherited genodermatosis characterized by the presence of multiple melanocytic nevi (often >50) and a family history of melanoma as well as, in a subset of patients, an increased risk of developing pancreatic cancer (see this term) and other malignancies.

Incidence and onset information

Not enough data available about incidence and published cases.
No data available about the known clinical features onset.

Alternative names

Familial Atypical Multiple Mole Melanoma Syndrome Is also known as b-k mole syndrome, familial atypical multiple mole melanoma-pancreatic carcinoma syndrome, fammm syndrome, familial dysplastic nevus syndrome, familial atypical mole syndrome, melanoma-pancreatic cancer syndrome, familial clark nevus syndrome, famm-pc syndrome.

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 Atypical Multiple Mole Melanoma Syndrome Recommended genes panels

Panel Name, Specifity and genes Tested/covered
Hereditary Melanoma Panel.

By Baylor Miraca Genetics Laboratories (United States).

BRCA2, TP53, CDK4, CDKN2A
Specificity
25 %
Genes
100 %
Hereditary Pancreatic Cancer Panel.

By Baylor Miraca Genetics Laboratories (United States).

BMPR1A, BRCA1, BRCA2, STK11, EPCAM, TP53, CDK4, CDKN2A, PALB2, APC, SMAD4, MLH1, MSH2, MSH6, ATM, PMS2, RAD50
Specificity
6 %
Genes
100 %
Comprehensive Hereditary Cancer Panel.

By Baylor Miraca Genetics Laboratories (United States).

RUNX1, SDHA, SDHB, SDHC, SDHD, BMPR1A, BRCA1, BRCA2, STK11, EPCAM, TP53, VHL, WT1, CBL, SUFU, CDC73, CDH1, CDK4, CDKN1C, CDKN2A , (...)

View the complete list with 39 more genes
Specificity
2 %
Genes
100 %
Hereditary Colorectal/Gastrointestinal Cancer Panel.

By Baylor Miraca Genetics Laboratories (United States).

BMPR1A, BRCA1, BRCA2, STK11, EPCAM, TP53, CDH1, CDK4, CDKN2A, PALB2, ENG, APC, SMAD4, MLH1, MSH2, MSH6, MUTYH, ATM, PMS1, PMS2 , (...)

View the complete list with 1 more genes
Specificity
5 %
Genes
100 %
Familial Malignant Melanoma.

By Center for Human Genetics, Inc (United States).

CDKN2A
Specificity
100 %
Genes
100 %
Inherited Cancer Panel.

By Knight Diagnostic Laboratories - Molecular Diagnostic Center Oregon Health & Science University (United States).

BLM, SDHB, BMPR1A, BRCA1, BRCA2, STK11, EPCAM, TP53, TSC1, TSC2, VHL, XRCC2, CDC73, CDH1, CDK4, CDKN1B, CDKN2A, BRIP1, SDHAF2, TMEM127 , (...)

View the complete list with 28 more genes
Specificity
3 %
Genes
100 %
MyeloidDx by NGS.

By Molecular Genetics Diagnostic Laboratory Detroit Medical Center University Laboratories (United States).

RUNX1, SF3B1, SRSF2, BRAF, SMC1A, STAG2, TP53, U2AF1, KDM6A, WT1, IKZF1, CALR, CBL, CBLB, SETBP1, FBXW7, CDKN2A, PHF6, ASXL1, CEBPA , (...)

View the complete list with 32 more genes
Specificity
2 %
Genes
100 %
MyeloidDx by NGS.

By Molecular Genetics Diagnostic Laboratory Detroit Medical Center University Laboratories (United States).

RUNX1, SF3B1, SRSF2, BRAF, SMC1A, STAG2, TP53, U2AF1, KDM6A, WT1, IKZF1, CALR, CBL, CBLB, SETBP1, CBLC, FBXW7, CDKN2A, PHF6, CEBPA , (...)

View the complete list with 31 more genes
Specificity
2 %
Genes
100 %

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Sources and references

You can check the following sources for additional information.

ORPHANET Genetic Syndrome Finder

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