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  3. RAD54B

RAD54B gene related symptoms and diseases

All the information presented here about the RAD54B gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: OMIM,HGNC,NCBIGENE, Mendelian Rare Disease Search Engine.

Table of contents:

Top 5 symptoms and clinical features associated to RAD54B gene

Symptoms // Phenotype % Cases
Neoplasm Very Common - Between 80% and 100% cases
Hereditary nonpolyposis colorectal carcinoma Uncommon - Between 30% and 50% cases
T-cell lymphoma Uncommon - Between 30% and 50% cases
Chronic lymphatic leukemia Uncommon - Between 30% and 50% cases
B-cell lymphoma Uncommon - Between 30% and 50% cases

Other less frequent symptoms and clinical features

Patients with RAD54B gene alterations may also develop some of the following symptoms and phenotypes:

  • Not very common - Between 30% and 50% cases

  • Hodgkin lymphoma
  • Lymphoma
  • Leukemia
  • Uterine leiomyosarcoma
  • Neoplasm of the stomach
  • Transitional cell carcinoma of the bladder
  • Carcinoma
  • Colorectal polyposis

And 9 more phenotypes, you can get all of them using our tools for rare diseases.

Rare diseases associated to RAD54B gene

Here you will find a list of rare diseases related to the RAD54B. You can also use our tool to get a more accurate diagnosis based on your current symptoms.


COLORECTAL CANCER; CRC

Alternate names

COLORECTAL CANCER; CRC Is also known as colon cancer

Description

Colorectal cancer is a heterogeneous disease that is common in both men and women. In addition to lifestyle and environmental risk factors, gene defects can contribute to an inherited predisposition to CRC. CRC is caused by changes in different molecular pathogenic pathways, such as chromosomal instability, CpG island methylator phenotype, and microsatellite instability. Chromosome instability is the most common alteration and is present in almost 85% of all cases (review by Schweiger et al., 2013). Genetic Heterogeneity of Colorectal CancerMutations in a single gene result in a marked predisposition to colorectal cancer in 2 distinct syndromes: familial adenomatous polyposis (FAP ) and hereditary nonpolyposis colorectal cancer (HNPCC; see {120435}). FAP is caused by mutations in the APC gene (OMIM ), whereas HNPCC is caused by mutations in several genes, including MSH2 (OMIM ), MLH1 (OMIM ), PMS1 (OMIM ), PMS2 (OMIM ), MSH6 (OMIM ), TGFBR2 (OMIM ), and MLH3 (OMIM ). Epigenetic silencing of MSH2 results in a form of HNPCC (see HNPCC8, {613244}). Other colorectal cancer syndromes include autosomal recessive adenomatous polyposis (OMIM ), which is caused by mutations in the MUTYH gene (OMIM ), and oligodontia-colorectal cancer syndrome (OMIM ), which is caused by mutations in the AXIN2 gene (OMIM ).The CHEK2 gene (OMIM ) has been implicated in susceptibility to colorectal cancer in Finnish patients. A germline mutation in the PLA2G2A gene (OMIM ) was identified in a patient with colorectal cancer.Germline susceptibility loci for colorectal cancer have also been identified. CRCS1 (OMIM ) is conferred by mutation in the GALNT12 gene (OMIM ) on chromosome 9q22; CRCS2 (OMIM ) maps to chromosome 8q24; CRCS3 (OMIM ) is conferred by variation in the SMAD7 gene (OMIM ) on chromosome 18; CRCS4 (OMIM ) is conferred by variation on 15q that causes increased and ectopic expression of the GREM1 gene (OMIM ); CRCS5 (OMIM ) maps to chromosome 10p14; CRCS6 (OMIM ) maps to chromosome 8q23; CRCS7 (OMIM ) maps to chromosome 11q23; CRCS8 (OMIM ) maps to chromosome 14q22; CRCS9 (OMIM ) maps to 16q22; CRCS10 (OMIM ) is conferred by mutation in the POLD1 gene (OMIM ) on chromosome 19q13; CRCS11 (OMIM ) maps to chromosome 20p12; and CRCS12 (OMIM ) is conferred by mutation in the POLE gene (OMIM ) on chromosome 12q24.Somatic mutations in many different genes, including KRAS (OMIM ), PIK3CA (OMIM ), BRAF (OMIM ), CTNNB1 (OMIM ), FGFR3 (OMIM ), AXIN2 (OMIM ), AKT1 (OMIM ), MCC (OMIM ), MYH11 (OMIM ), PARK2 (OMIM ), and RNF43 (OMIM ), have been identified in colorectal cancer.

Most common symptoms of COLORECTAL CANCER; CRC

  • Neoplasm
  • Carcinoma
  • Oligodontia
  • Colon cancer
  • Colitis


More info about COLORECTAL CANCER; CRC

SOURCES: OMIM

NON-HODGKIN LYMPHOMA

Alternate names

NON-HODGKIN LYMPHOMA Is also known as nhl, non-hodgkin lymphoma

Description

Non-Hodgkin malignant lymphomas(NHL) is a heterogeneous group of malignant tumors of the lymphoid system.

Most common symptoms of NON-HODGKIN LYMPHOMA

  • Neoplasm
  • Leukemia
  • Lymphoma
  • Hodgkin lymphoma
  • B-cell lymphoma


More info about NON-HODGKIN LYMPHOMA

SOURCES: ORPHANET OMIM


Potential gene panels for RAD54B gene

RAD54B Panel

United States.

By Fulgent Genetics Fulgent Genetics

This panel specifically test the RAD54B gene.

More info about this panel
United States.

Solid Tumor Gene Set Panel

United States.

By Genomics and Pathology Services Washington University in St. Louis Solid Tumor Gene Set that also includes the following genes: RIT1 ROS1 RXRA FOXL2 BRAF BRCA1 BRCA2 SMARCA4 SMARCB1 KDM5C

More info about this panel
United States.

Breast Tumors Gene Set Panel

United States.

By Genomics and Pathology Services Washington University in St. Louis Breast Tumors Gene Set that also includes the following genes: RUNX1 BRAF BRCA1 BRCA2 STK11 TP53 FBXW7 RAD54B CDH1 CDK4

More info about this panel
United States.

Tempus xO assay Panel

United States.

By Tempus Labs, Inc. Tempus xO assay that also includes the following genes: BCL6 RHEB RIPK1 RIPK2 RIPK3 RIT1 BCL7A BCL9 BCR ROBO2

More info about this panel
United States.

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