Somatic and germline mutations of the BRCA2 gene in sporadic ovarian cancer

被引:0
作者
Foster, KA
Harrington, P
Kerr, J
Russell, P
DiCioccio, RA
Scott, IV
Jacobs, I
ChenevixTrench, G
Ponder, BAJ
Gayther, SA
机构
[1] ADDENBROOKES HOSP, CANC RES CAMPAIGN, HUMAN CANC GENET RES GRP, CAMBRIDGE CB2 2QQ, ENGLAND
[2] QUEENSLAND INST MED RES, BRISBANE, QLD 4006, AUSTRALIA
[3] ROSWELL PK CANC INST, DEPT GYNECOL ONCOL RES, BUFFALO, NY 14263 USA
[4] DERBY CITY GEN HOSP, DEPT OBSTET & GYNAECOL, DERBY DE22 3NE, ENGLAND
[5] ST BARTHOLOMEWS HOSP, ROYAL HOSP NATL HLTH SERV TRUST, OVARIAN CANC SCREENING UNIT, LONDON EC1A 7BE, ENGLAND
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D O I
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中图分类号
R73 [肿瘤学];
学科分类号
100214 ;
摘要
The breast and ovarian cancer susceptibility gene BRCA2 has recently been isolated, A role for BRCA2 in sporadic breast and ovarian cancer has been suggested by loss of heterozygosity (LOH) studies which show frequent LOH in the BRCA2 region at chromosome 13q12, In addition, the observation of nonrandom loss of the wild-type chromosome in a breast/ovarian cancer family which shows linkage to BRCAZ suggests it may act as a tumor suppressor gene, To determine the extent of somatic alteration involving BRCA2 in sporadic ovarian cancer, 50 tumors were analyzed for mutations throughout the entire BRCA2 coding region, Mutations predicted to result in truncation of the BRCAZ protein were detected in four rumors, Analysis of germline DNA revealed two of these alterations to be of somatic origin. In addition, ail four tumors exhibited loss of the second BRCA2 allele as predicted by Knudson's hypothesis for a tumor suppressor gene, These results suggest that, as Is the case with BRCA1, somatic mutations of BRCA2 are infrequent in sporadic ovarian cancer, despite the relatively high frequency of LOH detected around the BRCA2 locus.
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页码:3622 / 3625
页数:4
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