Four novel germline BRCA1 and BRCA2 mutations in breast and breast-ovarian cancer

MACHÁČKOVÁ, Eva, Jiří DAMBORSKÝ, Dalibor VALÍK a Lenka FORETOVÁ. Four novel germline BRCA1 and BRCA2 mutations in breast and breast-ovarian cancer. Human Mutation. 2001, roč. 18, č. 1, s. 545-549. ISSN 1059-7794.

Základní údaje

• Originální název: Four novel germline BRCA1 and BRCA2 mutations in breast and breast-ovarian cancer
• Autoři: MACHÁČKOVÁ, Eva, Jiří DAMBORSKÝ, Dalibor VALÍK a Lenka FORETOVÁ.
• Vydání: Human Mutation, 2001, 1059-7794.

Další údaje

• Originální jazyk: angličtina
• Typ výsledku: Článek v odborném periodiku
• Obor: Genetika a molekulární biologie
• Stát vydavatele: Velká Británie a Severní Irsko
• Utajení: není předmětem státního či obchodního tajemství
• WWW: URL
• Impakt faktor: Impact factor: 6.134
• Kód RIV: RIV/00216224:14310/01:00005020
• Organizační jednotka: Přírodovědecká fakulta

Anotace

Germline mutations in breast cancer susceptibility genes, BRCA1 and BRCA2, are responsible for a substantial proportion of high-risk breast and breast/ovarian cancer families. To characterize the spectrum of BRCA1 and BRCA2 mutations, we screened Czech families with reast/ovarian cancer using the non-radioactive protein truncation test, heteroduplex analysis and direct sequencing. In a group of 100 high-risk breast and breast/ovarian cancer families, four novel frame shift mutations were identified in BRCA1 and BRCA2 genes. In BRCA1, two novel frame shift mutations were identified as 3761-3762delGA and 2616-2617ins10; in BRCA2, two novel frame shift mutations were identified as 5073-5074delCT and 6866delC. Furthermore, a novel missense substitution M18K in BRCA1 gene in a breast/ovarian cancer family was identified which lies adjacent just upstream of the most highly conserved C3HC4 RING zinc finger motif. To examine the tertiary structure of the RING zinc finger domain and possible effects of M18K substitution on its stability, we used threading techniques according to the crystal structure of RAG1 dimerization domain of the DNA-binding protein.

Návaznosti

• LN00A016, projekt VaV: Název: BIOMOLEKULÁRNÍ CENTRUM

Investor: Ministerstvo školství, mládeže a tělovýchovy ČR, Biomolekulární centrum