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Renal Cystadenocarcinoma and Nodular Dermatofibrosis

Renal Cystadenocarcinoma and Nodular Dermatofibrosis (RCND) is an inherited genetic disorder in dogs that predisposes them to kidney, skin, and uterine cancers.

Affected Genes: FLCN

Inheritance: Autosomal Dominant

Variant(canFam6):
chr5:42326176: A>G

Breed: German Shepherd Dog
Shiloh Shepherd
White Shepherd Dog

General Information: Renal Cystadenocarcinoma and Nodular Dermatofibrosis (RCND) is a genetic condition in dogs that causes the formation of tumors in the kidneys, skin, and uterus (in females). Affected dogs typically present with small, firm bumps under the skin, especially on the limbs and head, around 6.5 years of age. The kidney tumors form nodular masses and cysts, leading to enlarged, abnormally shaped, and scarred kidneys. These dogs often exhibit signs of chronic kidney disease, such as frequent urination, blood in the urine, excessive drinking, depression, loss of appetite, and weight loss. While the disease usually manifests after the age of 5, tumors may not develop until the dogs are 9 to 11 years old, with an average age of death at 9.3 years due to renal failure or metastatic disease.

How to Read Your Dog's Test Results for this Genetic Variant:

Two Variants Detected: Dog Likely Affected

One Variant Detected: Dog Unlikely Affected

No Variants Detected: No Effect

Gene / Testing Information: Genetic testing for Renal Cystadenocarcinoma and Nodular Dermatofibrosis (RCND) involves screening for mutations in the FLCN gene to determine carrier status. RCND is inherited in an autosomal dominant manner, meaning that a dog only needs one copy of the mutated gene to be at risk for the disease. Puppies inheriting two copies of the mutation likely die very early in gestation, leading to reduced litter sizes. Each puppy born to a parent with one copy of the mutation has a 50% chance of inheriting the mutated gene and being at risk for RCND. Since symptoms typically do not appear until adulthood, genetic testing should be performed before breeding to ensure responsible breeding practices. Avoiding the breeding of known carriers is crucial to prevent producing affected puppies and eliminate the mutation from breeding lines. Dogs that are not carriers of the mutation do not have an increased risk of producing affected puppies.

References:
Jónasdóttir TJ, Mellersh CS, Moe L, Heggebø R, Gamlem H, Ostrander EA, Lingaas F. Genetic mapping of a naturally occurring hereditary renal cancer syndrome in dogs. Proc Natl Acad Sci USA. 2000 97(8):4132-4137.

Lingaas F, Comstock KE, Kirkness EF, Sørensen A, Aarskaug T, Hitte C, Nickerson ML, Moe L, Schmidt LS, Thomas R, Breen M, Galibert F, Zbar B, Ostrander EA. A mutation in the canine BHD gene is associated with hereditary multifocal renal cystadenocarcinoma and nodular dermatofibrosis in the German Shepherd dog. Hum Mol Genet. 2003 12(23):3043-3053.