Spectrum of Mutations in BRCA1 Gene in Hereditary Forms of Breast and Ovarian Cancer in Russian Families

Логинова, А. Н.; Pospekhova, N. I.; Lyubchenko, L. N.; Budilov, A. V.; Zakhar'ev, V. M.; Gar'kavtseva, R F; Гинтер, Е. К.; Карпухин, А. В.

doi:10.1023/b:bebm.0000008982.21806.9b

Cited by 23 publications

(16 citation statements)

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“…1). High incidence of this mutation was observed previously in studies of samplings of patients with familial BC and OC [1][2][3]. The remaining part of the spectrum included 4 mutations.…”

Section: Resultssupporting

confidence: 55%

“…PCR and conformation-sensitive gel electrophoresis were carried out [2]. Fragments of DNA with electrophoretically detected structural variations were sequenced by two complementary chains of the DNA fragment.…”

Section: Methodsmentioning

confidence: 99%

mentioning

confidence: 91%

“…The highest percentage of hereditary breast cancer (BC) and/or OC is linked with mutations in the BRCA1 gene. In familial OC, the incidence of mutations in the BRCA1 gene is significantly higher than the incidence of mutations in this gene in familial BC [2].High incidence of mutations in familial OC stimulated studies of samplings of OC patients not selected by familial history. High incidence of mutations in the BRCA1 and BRCA2 genes was detected in some populations.…”

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confidence: 99%

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High incidence of mutations in BRCA1 and BRCA2 genes in ovarian cancer

et al. 2007

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The incidence of mutations in the BRCA1 and BRCA2 genes in the studied sampling of 74 patients with ovarian cancer was 19%. The incidence of mutations in the Russian sampling of patients, formed without consideration for the family history, is one of the highest in European countries. Retrospective analysis showed that 9% patients carrying mutation had no family history of ovarian or breast cancer. The majority of mutations (86%) were detected in BRCA1 gene, where 5382insC mutation predominated (58%). These data suggest the possibility and advisability of screening for mutations in the BRCA1/2 genes in patients with ovarian cancer, particularly because this population includes patients without family history of ovarian and/or breast cancer.

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“…1). High incidence of this mutation was observed previously in studies of samplings of patients with familial BC and OC [1][2][3]. The remaining part of the spectrum included 4 mutations.…”

Section: Resultssupporting

confidence: 55%

Section: Methodsmentioning

confidence: 99%

mentioning

confidence: 91%

mentioning

confidence: 99%

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High incidence of mutations in BRCA1 and BRCA2 genes in ovarian cancer

et al. 2007

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“…(29) It is the most common BRCA1 mutation worldwide, and is particularly important in Russia (30) and Poland. (31) However, our results and a previous study of 1576 Jewish males (10) suggest that among Ashkenazi men, the prevalence of this mutation carriers is less frequent (<0.5%) than the BRCA1 185delAG mutation.…”

Section: Discussionmentioning

confidence: 99%

Similar prevalence of founder BRCA1 and BRCA2 mutations among Ashkenazi and non-Ashkenazi men with breast cancer: Evidence from 261 cases in Israel, 1976–1999

Chodick

Struewing

Ron

et al. 2008

European Journal of Medical Genetics

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To evaluate the potential contribution of mutations in the BRCA1 and BRCA2 genes to male breast cancer (MBC), we expanded a previous study to screen a total of 261 Israeli men diagnosed with breast carcinoma. A total of 21 BRCA2 6174delT and eight BRCA1 185delAG mutations were found. Similar frequencies of BRCA1 and BRCA2 mutation carriers were found among Ashkenazi (12.8%) and non-Ashkenazi Jews (9.1%). The combined prevalence of BRCA1/BRCA2 founder mutations among Ashkenazi Jewish men is slightly higher than for women, due to a higher frequency of BRCA2 mutations.

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Nonrandom distribution of oncogene amplifications in bilateral breast carcinomas: Possible role of host factors and survival bias

Suspitsin

Sokolenko

Togo

et al. 2006

Intl Journal of Cancer

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Amplification of HER2, C-MYC and CCND1 oncogenes is a hallmark of breast cancer (BC); however, its involvement in the bilateral form of this disease has not been investigated yet. In this study, 50 bilateral BC (biBC) pairs (100 tumors) and 72 control unilateral BC were examined using real-time PCR analysis of microdissected archival tissues. In biBC, the frequency of >3-fold oncogene amplification was 6/100 (6%) for HER2, 6/100 (6%) for C-MYC and 7/100 (7%) for CCND1. Altogether, 18/100 (18%) biBC tumors had increased gene dosage of at least one oncogene. Tumors forming synchronous biBC pairs had amplification in 11/46 cases (24%). In 3 of 8 patients with amplification-positive carcinomas, the amplification was detected in both neoplasms: 2 biBC had concordant activation of the same oncogene (HER2 and CCND1, respectively), and in the remaining case distinct oncogenes were affected (HER2 and C-MYC). In contrast, amplifications in metachronous biBC were strongly discordant: none of 27 first carcinomas carried this abnormality, while the frequency of amplification in second tumors (7/27; 26%) was similar to the one observed in unilateral BC (20/72; 28%). The trend toward concordance of oncogene amplification status in synchronous but not in metachronous biBC pairs can be explained by the nearly identical natural history of the disease in simultaneously arising tumors. The skewed pattern of amplifications in metachronous biBC might be attributed to their association with adverse BC prognosis; it appears that only patients with amplification-negative first BC have sufficient chances to survive until the development of the contralateral carcinoma. ' 2006 Wiley-Liss, Inc.

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Spectrum of Mutations in BRCA1 Gene in Hereditary Forms of Breast and Ovarian Cancer in Russian Families

Cited by 23 publications

References 5 publications

High incidence of mutations in BRCA1 and BRCA2 genes in ovarian cancer

High incidence of mutations in BRCA1 and BRCA2 genes in ovarian cancer

Similar prevalence of founder BRCA1 and BRCA2 mutations among Ashkenazi and non-Ashkenazi men with breast cancer: Evidence from 261 cases in Israel, 1976–1999

Nonrandom distribution of oncogene amplifications in bilateral breast carcinomas: Possible role of host factors and survival bias

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