Avtor/Urednik		Zbar, B; Kishida, T; Chen, F; Schmidt, L; Maher, ER; Richards, FM; Crossey, PA; Webster, AR; Affara, NA; Glavač, D
Naslov		Germline mutations in the Von Hippel-Lindau disease (VHL) gene in families rom North America, Europe, and Japan
Tip		članek
Vir		Hum Mutat
Vol. in št.		Letnik 8, št. 4
Leto izdaje		1996
Obseg		str. 348-57
Jezik		eng
Abstrakt		Germline mutation analysis was performed in 469 VHL families from North America, Europe, and Japan. Germline mutations were identified in 300/469 (63%) of the families tested; 137 distinct intragenic germline mutations were detected. Most of the germline VHL mutations (124/137) occurred in 1-2 families; a few occured in four or more families. The common germline VHL mutations were: delPhe76, Asn78Ser, Arg161Stop, Arg167Gln, Arg167Trp, and Leu178Pro. In this large series, it was possible to compare the effects of identical germline mutations in different populations. Germline VHL mutations produced similar cancer phenotypes in Caucasian and Japanese VHL families. Germline VHL mutations were identified that produced three distinct cancer phenotypes: (1) renal carcinoma without pheochromocytoma, (2) renal carcinoma with pheochromocytoma, and (3) pheochromocytoma alone. The catalog of VHL germline mutations with phenotype information should be useful for diagnostic and prognostic studies of VHL and for studies of genotype-phenotype correlations in VHL.
Deskriptorji		GENES, SUPPRESSOR, TUMOR HIPPEL-LINDAU DISEASE MUTATION PROTEINS FAMILY ADRENAL GLAND NEOPLASMS CAUCASOID RACE ETHNIC GROUPS EUROPE GENOTYPE INTRONS ISRAEL JAPAN KIDNEY NEOPLASMS MONGOLOID RACE NORTH AMERICA PHENOTYPE PHEOCHROMOCYTOMA POINT MUTATION SEQUENCE DELETION