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

J 2001

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

MACHÁČKOVÁ, Eva; Jiří DAMBORSKÝ; Dalibor VALÍK a Lenka FORETOVÁ

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

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

Odkazy

URL

Impakt faktor

Impact factor: 6.134

Označené pro přenos do RIV

Ano

Kód RIV

RIV/00216224:14310/01:00005020

Organizační jednotka

Přírodovědecká fakulta

Změněno: 13. 2. 2002 06:00, prof. Mgr. Jiří Damborský, Dr.

Anotace

V originále

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

Citovat

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.

@article{383014,
   author = {Macháčková, Eva and Damborský, Jiří and Valík, Dalibor and Foretová, Lenka},
   article_number = {1},
   language = {eng},
   issn = {1059-7794},
   journal = {Human Mutation},
   title = {Four novel germline BRCA1 and BRCA2 mutations in breast and breast-ovarian cancer},
   url = {http://www.ncbr.chemi.muni.cz/~jiri/ABSTRACTS/hummut01.html},
   volume = {18},
   year = {2001}
}

TY  - JOUR
ID  - 383014
AU  - Macháčková, Eva - Damborský, Jiří - Valík, Dalibor - Foretová, Lenka
PY  - 2001
TI  - Four novel germline BRCA1 and BRCA2 mutations in breast and breast-ovarian cancer
JF  - Human Mutation
VL  - 18
IS  - 1
SP  - 545
EP  - 545
SN  - 10597794
UR  - http://www.ncbr.chemi.muni.cz/~jiri/ABSTRACTS/hummut01.html
N2  - 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.
ER  -

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

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