Familial Adenomatous Polyposis 3; Fap3

Description

Familial adenomatous polyposis-3 is an autosomal recessive cancer predisposition syndrome characterized by the development of multiple colonic adenomas, often with progression to colorectal cancer. Carcinomas affecting other tissues may also occur, and the carcinomas tend to develop in middle age or late adulthood (summary by Weren et al., 2015).For a discussion of genetic heterogeneity of familial adenomatous polyposis, see FAP1 (OMIM ).

Clinical Features

Top most frequent phenotypes and symptoms related to Familial Adenomatous Polyposis 3; Fap3

  • Neoplasm
  • Nevus
  • Carcinoma
  • Lymphoma
  • Neoplasm of the skin
  • Breast carcinoma
  • Squamous cell carcinoma
  • Basal cell carcinoma
  • Hodgkin lymphoma
  • Neoplasm of the pancreas
And another 5 symptoms. If you need more information about this disease we can help you.
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Incidence and onset information

Not enough data available about incidence and published cases.


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Familial Adenomatous Polyposis 3; Fap3 Recommended genes panels

Panel Name, Specifity and genes Tested/covered
CustomNext: Cancer.

By Ambry Genetics in United States.

BRCA1, BRCA2, VHL, APC, EPCAM, MSH2, PMS2, MSH6, MLH1, MUTYH, PTEN, TP53, RB1, SDHAF2, RET, SDHC, FH, SDHB, TMEM127, MEN1 , (...)

View the complete list with 48 more genes
Specificity
2 %
Genes
100 %
Familial adenomatous polyposis 3 (sequence analysis of NTHL1 gene).

By CGC Genetics in Portugal.

NTHL1
Specificity
100 %
Genes
100 %
Familial adenomatous polyposis 3 (sequence analysis of NTHL1 gene).

By CGC Genetics in Portugal.

NTHL1
Specificity
100 %
Genes
100 %
Hereditary Polyposis Sequencing Panel with CNV Detection.

By PreventionGenetics PreventionGenetics in United States.

APC, MUTYH, POLD1, POLE, NTHL1, MSH3
Specificity
17 %
Genes
100 %
Hereditary Cancer Syndromes - panels.

By MGZ Medical Genetics Center in Germany.

BRCA1, BRCA2, VHL, APC, EPCAM, MSH2, PMS2, MSH6, MLH1, MUTYH, PTEN, RECQL4, RUNX1, TP53, HNF1A, WT1, RB1, SDHAF2, RET, SDHC , (...)

View the complete list with 80 more genes
Specificity
1 %
Genes
100 %
Familial adenomatous polyposis type 3.

By Centogene AG - the Rare Disease Company in Germany.

NTHL1
Specificity
100 %
Genes
100 %
CentoCancer panel.

By Centogene AG - the Rare Disease Company in Germany.

BRCA1, BRCA2, APC, EPCAM, MSH2, PMS2, MSH6, MLH1, MUTYH, PTEN, TP53, FH, BLM, ATM, NBN, PALB2, CDH1, STK11, CDK4, CDKN2A , (...)

View the complete list with 11 more genes
Specificity
4 %
Genes
100 %
CentoColon extended panel.

By Centogene AG - the Rare Disease Company in Germany.

APC, EPCAM, MSH2, PMS2, MSH6, MLH1, MUTYH, PTEN, TP53, CDH1, STK11, CHEK2, BMPR1A, SMAD4, POLD1, POLE, NTHL1
Specificity
6 %
Genes
100 %
Nuclear-Mito NGS Panel.

By Fulgent Genetics Fulgent Genetics in United States.

HTT, UBE3A, MUTYH, TP53, MCCC1, MCCC2, AARS2, ACACA, ACAD9, ACADL, ACADM, ACADS, ACADVL, ACAT1, YARS2, FBP1, PC, GYS2, UQCRQ, UQCRB , (...)

View the complete list with 484 more genes
Specificity
1 %
Genes
100 %
NTHL1.

By Fulgent Genetics Fulgent Genetics in United States.

NTHL1
Specificity
100 %
Genes
100 %
Comprehensive Hereditary Cancer Panel.

By Blueprint Genetics in Finland.

BRCA1, BRCA2, VHL, APC, EPCAM, MSH2, PMS2, MSH6, MLH1, MUTYH, PTEN, RECQL4, RUNX1, TP53, HNF1A, WT1, SDHAF2, RET, SDHC, RAF1 , (...)

View the complete list with 126 more genes
Specificity
1 %
Genes
100 %
Hereditary Colorectal Cancer Panel.

By Blueprint Genetics in Finland.

APC, EPCAM, MSH2, PMS2, MSH6, MLH1, MUTYH, PTEN, TP53, BLM, STK11, BMPR1A, SMAD4, POLD1, GREM1, POLE, AXIN2, NTHL1
Specificity
6 %
Genes
100 %
Hereditary Gastrointestinal Cancer Panel.

By Blueprint Genetics in Finland.

BRCA1, BRCA2, VHL, APC, EPCAM, MSH2, PMS2, MSH6, MLH1, MUTYH, PTEN, TP53, SDHC, SDHB, TMEM127, MEN1, FANCC, BLM, TSC2, TSC1 , (...)

View the complete list with 19 more genes
Specificity
3 %
Genes
100 %
Familial Adenomatous Polyposis, Panel Massive Sequencing (NGS) 7 Genes.

By Reference Laboratory Genetics in Spain.

APC, MUTYH, PTEN, STK11, BMPR1A, SMAD4, NTHL1
Specificity
15 %
Genes
100 %
Tempus xT assay.

By Tempus Labs, Inc. in United States.

BRCA1, BRCA2, MTHFR, VHL, APC, EPCAM, MSH2, PMS2, MSH6, MLH1, MUTYH, PTEN, RECQL4, RUNX1, TP53, ATP7B, FOXL2, HNF1A, WT1, RB1 , (...)

View the complete list with 571 more genes
Specificity
1 %
Genes
100 %

Alternate names

Familial Adenomatous Polyposis 3; Fap3 Is also known as ;nthl1-related afap; nthl1-related attenuated fap.



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