| Hereditary leiomyomatosis and renal cell cancer |
| Geno
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Mag
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Summary
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| (A;G)
|
5
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Hereditary leiomyomatosis and renal cell cancer
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| (C;G)
|
5
|
Hereditary leiomyomatosis and renal cell cancer
|
| (G;G)
|
0
|
common in clinvar
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This is a genotype with recommended actions if clinically confirmed. In brief:
- Hereditary leiomyomatosis and renal cell cancer (HLRCC) is characterized by cutaneous and uterine leiomyomas and, in some families, renal cell cancer.
- Provisional recommendations state that individuals with a clinical diagnosis of HLRCC and those with heterozygous pathogenic FH gene variants and no clinical manifestations should undergo: a full skin examination bi/annually, annual gynecologic consultation, annual abdominal MRI.
- Annual pelvic examination of patients 21 years of age or older is recommended for all women.
The full ClinGen Actionability report about Hereditary leiomyomatosis and renal cell cancer (HLRCC) can be found
here.
Genetic counseling may be available to you through your health-care network. In the US, genetic counselors may be found via this webpage of the National Society of Genetic Counselors.
