Limits...
Clinical and functional properties of novel VHL mutation (X214L) consistent with Type 2A phenotype and low risk of renal cell carcinoma.

Sorrell AD, Lee S, Stolle C, Ellenhorn J, Grix A, Kaelin WG, Weitzel JN - Clin. Genet. (2011)

Bottom Line: In contrast, the variant was defective with respect to downregulation of JunB. pVHL X214L, like other pVHL variants associated with a low risk of clear cell renal carcinoma, largely preserves the ability to downregulate HIF.In contrast, this variant, like other pVHL variants linked to Type 2A disease, fails to suppress JunB.This underscores that JunB may play a role in the pathogenesis of Type 2A VHL disease.

View Article: PubMed Central - PubMed

Affiliation: City of Hope National Medical Center, Duarte, California 91010-3000, USA. asorrell@coh.org

Show MeSH

Related in: MedlinePlus

Pedigree of family with VHL X214L germline mutation. The index patient (proband) is indicated by . Family members with confirmed VHL gene mutations are identified by the plus sign (+). The square symbols represent males; the circle symbols represent females. The age (years) of each individual is noted below the symbol. Family members affected by cancer are identified by diagnoses abbreviations and symbols [pheochromocytoma (Pheo ), liver cancer (L ), cancer not otherwise specified (Ca–Nos ), Hodgkin's (H ), islet cell tumor of the pancreas (Islet), retinal hemangioblastoma (RHE )]. Diagonally dashed symbols represent deceased individuals.
© Copyright Policy - open-access
Related In: Results  -  Collection

License
getmorefigures.php?uid=PMC2958253&req=5

fig02: Pedigree of family with VHL X214L germline mutation. The index patient (proband) is indicated by . Family members with confirmed VHL gene mutations are identified by the plus sign (+). The square symbols represent males; the circle symbols represent females. The age (years) of each individual is noted below the symbol. Family members affected by cancer are identified by diagnoses abbreviations and symbols [pheochromocytoma (Pheo ), liver cancer (L ), cancer not otherwise specified (Ca–Nos ), Hodgkin's (H ), islet cell tumor of the pancreas (Islet), retinal hemangioblastoma (RHE )]. Diagonally dashed symbols represent deceased individuals.

Mentions: Our proband is a 20-year-old female referred for cancer genetics consultation due to a personal history of two synchronous primary tumors (a second primary pheochromocytoma and a malignant neuroendocrine tumor of the pancreas) and a family history of early-onset pheochromocytomas. A four-generation pedigree was obtained (Fig. 2).


Clinical and functional properties of novel VHL mutation (X214L) consistent with Type 2A phenotype and low risk of renal cell carcinoma.

Sorrell AD, Lee S, Stolle C, Ellenhorn J, Grix A, Kaelin WG, Weitzel JN - Clin. Genet. (2011)

Pedigree of family with VHL X214L germline mutation. The index patient (proband) is indicated by . Family members with confirmed VHL gene mutations are identified by the plus sign (+). The square symbols represent males; the circle symbols represent females. The age (years) of each individual is noted below the symbol. Family members affected by cancer are identified by diagnoses abbreviations and symbols [pheochromocytoma (Pheo ), liver cancer (L ), cancer not otherwise specified (Ca–Nos ), Hodgkin's (H ), islet cell tumor of the pancreas (Islet), retinal hemangioblastoma (RHE )]. Diagonally dashed symbols represent deceased individuals.
© Copyright Policy - open-access
Related In: Results  -  Collection

License
Show All Figures
getmorefigures.php?uid=PMC2958253&req=5

fig02: Pedigree of family with VHL X214L germline mutation. The index patient (proband) is indicated by . Family members with confirmed VHL gene mutations are identified by the plus sign (+). The square symbols represent males; the circle symbols represent females. The age (years) of each individual is noted below the symbol. Family members affected by cancer are identified by diagnoses abbreviations and symbols [pheochromocytoma (Pheo ), liver cancer (L ), cancer not otherwise specified (Ca–Nos ), Hodgkin's (H ), islet cell tumor of the pancreas (Islet), retinal hemangioblastoma (RHE )]. Diagonally dashed symbols represent deceased individuals.
Mentions: Our proband is a 20-year-old female referred for cancer genetics consultation due to a personal history of two synchronous primary tumors (a second primary pheochromocytoma and a malignant neuroendocrine tumor of the pancreas) and a family history of early-onset pheochromocytomas. A four-generation pedigree was obtained (Fig. 2).

Bottom Line: In contrast, the variant was defective with respect to downregulation of JunB. pVHL X214L, like other pVHL variants associated with a low risk of clear cell renal carcinoma, largely preserves the ability to downregulate HIF.In contrast, this variant, like other pVHL variants linked to Type 2A disease, fails to suppress JunB.This underscores that JunB may play a role in the pathogenesis of Type 2A VHL disease.

View Article: PubMed Central - PubMed

Affiliation: City of Hope National Medical Center, Duarte, California 91010-3000, USA. asorrell@coh.org

Show MeSH
Related in: MedlinePlus