Germline mutations were identified in 300/469 (63%) of the families tested; 137 distinct intragenic germline mutations were detected.
Germline mutational data on VHL was gathered from various countries to assess variation in germline mutations that produce disease within different populations. Families were grouped according to three possible outcomes of disease: renal cell carcinoma without pheochromocytoma, renal cell carcinoma with pheochromocytoma, or pheochromocytoma alone. SSCP and denaturing gradient gel electrophoresis identified mutations in 300/469 (63%) of families affected with VHL. This germline familial VHL mutation (F76I (c.226T>A)) was taken from the National Cancer Institute database, with an unknown number of members belonging to Family ID 3682NCI. It was reported in the paper as c.439T>A due to a difference in transcript reference. Additionally, this family ID is stated above in the same table, Table 3, under the mutation c.376delG. Unclear if this is a typo, or if multiple mutations belong to this one family. As reported in Table 3, this mutation is found in VHL family without pheochromocytoma, and with renal cell carcinoma. Later publications reference this cohort as being reported in PMID: 7728151.