Associated Genetic Biomarkers

Overview

NCI Definition: An autosomal dominant inherited syndrome caused by germline mutations in the FH gene. It is characterized by predisposition to leiomyomas of the skin and uterus, renal cell carcinoma, and leiomyosarcoma of the uterus. [1]

Significant Genes in Hereditary Leiomyomatosis and Renal Cell Cancer

FH +

SDHA +

SDHB +

SDHC +

SDHD +

Disease Details

Synonyms
hereditary leiomyomatosis and renal cell cancer syndrome, Hereditary Leiomyomatosis and Renal Cell Carcinoma, HLRCC
Parent(s)
Hereditary Renal Cell Carcinoma
OncoTree Name
FH-Deficient Renal Cell Carcinoma
OncoTree Code
FHRCC

References

1. National Cancer Institute. NCI Thesaurus Version 18.11d. https://ncit.nci.nih.gov/ncitbrowser/ [2018-08-28]. [2018-09-21].

2. The AACR Project GENIE Consortium. AACR Project GENIE: powering precision medicine through an international consortium. Cancer Discovery. 2017;7(8):818-831. Dataset Version 6. This dataset does not represent the totality of the genetic landscape; see paper for more information.

3. All assertions and clinical trial landscape data are curated from primary sources. You can read more about the curation process here.