title: Point mutations and deletions of the Bcl10 gene in solid tumors and malignant lymphomas.
abstract: The Bcl10 gene, which encodes a protein with proapoptotic activity, recently has been identified on chromosome 1p22. In this study, we analyzed somatic mutations and deletions of the Bcl10 gene in a series of 439 tumor tissues from various histological origins that are known to have frequent loss of heterozygosity at chromosome 1p22. According to the LOH study at intragenic polymorphic sites, deletion of Bcl10 in informative cases was detected in 50% of malignant mesotheliomas, 33% of gastric carcinomas, 23% of breast carcinomas, 20% of hepatocellular carcinomas, 17% of lymphomas, 15% of colorectal carcinomas, 13% of laryngeal carcinomas, and 10% of male germ cell tumors (GCTs). In contrast, we detected Bcl10 mutations in 4 of 120 lymphomas (3.3%) and 2 of 78 GCTs (2.6%), respectively, but no mutation was found in the remaining solid tumors analyzed. Taken together, these data imply that Bcl10 may occasionally be involved in the pathogenesis of lymphoma and GCTs. However, the absence or low frequency of the mutation suggests that either Bcl10 is inactivated by other mechanisms or it is not the only target of chromosome 1p22 deletion in human tumors.
authors.affiliation: Department of Pathology, College of Medicine, The Catholic University of Korea, Seoul.
authors.forename: S H
authors.initials: SH
authors.lastname: Lee
authors.forename: M S
authors.initials: MS
authors.lastname: Shin
authors.forename: H S
authors.initials: HS
authors.lastname: Kim
authors.forename: W S
authors.initials: WS
authors.lastname: Park
authors.forename: S Y
authors.initials: SY
authors.lastname: Kim
authors.forename: H K
authors.initials: HK
authors.lastname: Lee
authors.forename: J Y
authors.initials: JY
authors.lastname: Park
authors.forename: R R
authors.initials: RR
authors.lastname: Oh
authors.forename: J J
authors.initials: JJ
authors.lastname: Jang
authors.forename: K M
authors.initials: KM
authors.lastname: Park
authors.forename: J Y
authors.initials: JY
authors.lastname: Han
authors.forename: C S
authors.initials: CS
authors.lastname: Kang
authors.forename: J Y
authors.initials: JY
authors.lastname: Lee
authors.forename: N J
authors.initials: NJ
authors.lastname: Yoo
mesh_terms: D048868:Adaptor Proteins, Signal Transducing; D000074018:B-Cell CLL-Lymphoma 10 Protein; D001943:Breast Neoplasms / Q000235:genetics; D018270:Carcinoma, Ductal, Breast / Q000235:genetics; D002294:Carcinoma, Squamous Cell / Q000235:genetics; D002878:Chromosomes, Human, Pair 1 / Q000235:genetics*; D015179:Colorectal Neoplasms / Q000235:genetics; D017353:Gene Deletion; D018237:Germinoma / Q000235:genetics; D006801:Humans; D007822:Laryngeal Neoplasms / Q000235:genetics; D016393:Lymphoma, B-Cell / Q000235:genetics; D016399:Lymphoma, T-Cell / Q000235:genetics; D009363:Neoplasm Proteins / Q000235:genetics*; D009369:Neoplasms / Q000235:genetics*; D017354:Point Mutation / Q000235:genetics*
chemical_list: D048868:Adaptor Proteins, Signal Transducing; D000074018:B-Cell CLL-Lymphoma 10 Protein; C118591:BCL10 protein, human; D009363:Neoplasm Proteins