Familial Adenomatous Polyposis 4; Fap4

Description

Familial adenomatous polyposis-4 is an autosomal recessive tumor predisposition syndrome characterized by the development of multiple colonic adenomas in adulthood, often with progression to colorectal cancer. Proliferative lesions in other tissues may also occur (summary by Adam et al., 2016).For a discussion of genetic heterogeneity of familial adenomatous polyposis, see FAP1 (OMIM ).

Clinical Features

Phenotypes and symptoms related to Familial Adenomatous Polyposis 4; Fap4

  • Carcinoma
  • Lipoma
  • Papilloma
  • Astrocytoma
  • Thyroid adenoma
  • Stomach cancer

Incidence and onset information

Not enough data available about incidence and published cases.


Mendelian

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Familial Adenomatous Polyposis 4; Fap4 Recommended genes panels

Panel Name, Specifity and genes Tested/covered
Endometrial carcinoma, somatic (sequence analysis of MSH3 gene).

By CGC Genetics in Portugal.

MSH3
Specificity
100 %
Genes
100 %
Hereditary colon cancer (panel NGS of 21 genes).

By CGC Genetics in Portugal.

APC, EPCAM, MSH2, PMS2, MSH6, MLH1, MUTYH, PTEN, TP53, CDH1, STK11, CHEK2, BMPR1A, SMAD4, TGFBR2, POLD1, POLE, AXIN2, GALNT12, MLH3 , (...)

View the complete list with 1 more genes
Specificity
5 %
Genes
100 %
Hereditary nonpolyposis colorectal cancer (metilation analysis and deletions/duplications analysis of MLH1, MLH3, MSH2, MSH3, MSH6, PMS2 and MGMT by MS-MLPA).

By CGC Genetics in Portugal.

MSH2, PMS2, MSH6, MLH1, MLH3, MSH3
Specificity
17 %
Genes
100 %
Hereditary nonpolyposis colorectal cancer (metilation analysis and deletions/duplications analysis of MLH1, MLH3, MSH2, MSH3, MSH6, PMS2 and MGMT by MS-MLPA).

By CGC Genetics in Portugal.

MSH2, PMS2, MSH6, MLH1, MLH3, MSH3
Specificity
17 %
Genes
100 %
Hereditary colon cancer (panel NGS of 21 genes).

By CGC Genetics in Portugal.

APC, EPCAM, MSH2, PMS2, MSH6, MLH1, MUTYH, PTEN, TP53, CDH1, STK11, CHEK2, BMPR1A, SMAD4, TGFBR2, POLD1, POLE, AXIN2, GALNT12, MLH3 , (...)

View the complete list with 1 more genes
Specificity
5 %
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 %
Hnpcc Deep Intronic.

By MGZ Medical Genetics Center in Germany.

EPCAM, MSH2, PMS2, MSH6, MLH1, PMS1, MLH3, MSH3
Specificity
13 %
Genes
100 %
Endometrial carcinoma.

By Centogene AG - the Rare Disease Company in Germany.

MSH3
Specificity
100 %
Genes
100 %
MMR genes methylation analysis.

By Centogene AG - the Rare Disease Company in Germany.

MSH2, PMS2, MSH6, MLH1, MGMT, MLH3, MSH3
Specificity
15 %
Genes
100 %
Breast and Ovarian Cancer - extended Diagnostic Panel.

By CeGaT GmbH in Germany.

BRCA1, BRCA2, EPCAM, MSH2, PMS2, MSH6, MLH1, MUTYH, PTEN, TP53, SDHC, SDHB, MEN1, FANCC, ATM, MRE11, NBN, PTCH1, PALB2, CDH1 , (...)

View the complete list with 21 more genes
Specificity
3 %
Genes
100 %
Single gene testing MSH3.

By CeGaT GmbH in Germany.

MSH3
Specificity
100 %
Genes
100 %
COLON CANCER.

By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases in Spain.

APC, EPCAM, MSH2, PMS2, MSH6, MLH1, MUTYH, PTEN, STK11, FLCN, BMPR1A, SMAD4, ENG, PMS1, MSH3
Specificity
7 %
Genes
100 %
Hereditary Cancer NGS Panel.

By Fulgent Genetics Fulgent Genetics in United States.

BRCA1, BRCA2, VHL, APC, EPCAM, MSH2, PMS2, MSH6, MLH1, MUTYH, PTEN, RECQL4, TP53, WT1, RB1, SDHAF2, RET, MC1R, TYR, KIF1B , (...)

View the complete list with 92 more genes
Specificity
1 %
Genes
100 %
Comprehensive Cancer Panel.

By Fulgent Genetics Fulgent Genetics in United States.

BRCA1, BRCA2, VHL, APC, EPCAM, MSH2, PMS2, MSH6, MLH1, MUTYH, PTEN, RECQL4, RUNX1, TP53, WT1, RB1, SDHAF2, RET, MC1R, TYR , (...)

View the complete list with 104 more genes
Specificity
1 %
Genes
100 %
MSH3.

By Fulgent Genetics Fulgent Genetics in United States.

MSH3
Specificity
100 %
Genes
100 %
FoundationOneĀ® Heme.

By Foundation Medicine, Inc. in United States.

BRCA1, BRCA2, VHL, APC, MSH2, MSH6, MLH1, MUTYH, PTEN, RUNX1, TP53, PC, FOXL2, HNF1A, WT1, RB1, RET, TNFRSF11A, CPS1, SDHC , (...)

View the complete list with 385 more genes
Specificity
1 %
Genes
100 %
Hereditary Colon Cancer , Panel Massive Sequencing (NGS) 14 Genes.

By Reference Laboratory Genetics in Spain.

APC, EPCAM, MSH2, PMS2, MSH6, MLH1, MUTYH, PTEN, STK11, FLCN, BMPR1A, SMAD4, ENG, MSH3
Specificity
8 %
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 %
Tempus xO assay.

By Tempus Labs, Inc. in United States.

BRCA1, BRCA2, VHL, APC, EPCAM, MSH2, PMS2, MSH6, MLH1, MUTYH, PTEN, RECQL4, RUNX1, TP53, ABCB11, ABCB4, FKBP10, FOXL2, HNF1A, PPARG , (...)

View the complete list with 1693 more genes
Specificity
1 %
Genes
100 %
CEN4GEN Colorectal cancer: Extended Sequencing Panel.

By CEN4GEN Institute for Genomics and Molecular Diagnostics in Canada.

APC, MSH2, MSH6, MLH1, TP53, CASP8, BRAF, DMD, KRAS, NRAS, ATM, SMAD4, CTNNB1, TGFBR2, SLC9A9, EP300, SMAD2, PIK3CA, FBXW7, AKT1 , (...)

View the complete list with 18 more genes
Specificity
3 %
Genes
100 %

Alternate names

Familial Adenomatous Polyposis 4; Fap4 Is also known as ;msh3-related afap; msh3-related attenuated fap; msh3-related attenuated familial polyposis coli.



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