Abstract:
:The spectrum of germline mutations among Jewish non Ashkenazi high risk breast/ovarian cancer families includes a few predominant mutations in BRCA1 (185delAG and Tyr978X) and BRCA2 (8765delAG). A few additional recurring mutations [A1708E, 981delAT, C61G (BRCA1) R2336P, and IVS2 + 1G > A (BRCA2)] have been reported in Jewish non Ashkenazi families. The 4153delA*BRCA1 C61G*BRCA1 and the 4075delGT*BRCA2 has been reported to recur in Russian/Polish non Jews and Ashkenazim, respectively. The rate of these recurring mutations has not been reported in Israeli high risk families. Genotyping for these recurring mutations by restriction enzyme digest and sequencing method was applied to high risk, predominantly cancer affected, unrelated Israeli individuals of Ashkenazi (n = 827), non Ashkenazi (n = 2,777), non Jewish Caucasians (n = 193), and 395 of mixed ethnicity. Jewish participants included 827 Ashkenazi, 804 Balkans, 847 North Africans, 234 Yemenites, and 892 Asians (Iraq and Iran). Age at diagnosis of breast cancer (median ± SD) (n = 2,484) was 47.2 ± 9.6 for all women participants. Males (n = 236) were also included, of whom 24 had breast cancer and 35 had pancreatic cancer. Overall, 8/282 (2.8%) of the Balkan cases carried the BRCA1*A1708E mutation, 4/180 (2.2%) the R2336P mutation, and 0/270 the IVS2 + 1G > A BRCA2 mutations, respectively. Of North Africans, 7/264 (2.65%) carried the BRCA1*981delAT mutation. The BRCA1*C61G mutation was detected in 3/269 Ashkenazi, non Ashkenazi, and non Jewish Russians; the BRCA1*Tyr978X mutation was detected in 23/3220 individuals of non Ashkenazi origin, exclusively of Asian ethnicity (23/892, 2.6% of the Asians tested). The BRCA1*4153delA mutation was noted in 2/285 non Jewish Caucasians, and none of the Ashkenazim (n = 500) carried the BRCA2*4075delGT mutation. Jewish high risk families of North African, Asian, and Balkan descent should be screened for the 981delAT, Tyr978X, A1708E BRCA1, and the R2336P BRCA2 mutations, respectively.
journal_name
Breast Cancer Res Treatjournal_title
Breast cancer research and treatmentauthors
Laitman Y,Simeonov M,Herskovitz L,Kushnir A,Shimon-Paluch S,Kaufman B,Zidan J,Friedman Edoi
10.1007/s10549-012-2006-8subject
Has Abstractpub_date
2012-06-01 00:00:00pages
1153-7issue
3eissn
0167-6806issn
1573-7217journal_volume
133pub_type
杂志文章abstract:PURPOSE:Triple-negative breast cancers (TNBC) are aggressive tumours that exhibit abundant lymphoid infiltrates which modulate tumour behaviour. Recent findings suggest that TNBC with higher densities of plasma cells are associated with a favourable prognosis, and tertiary lymphoid structures (TLS) have prognostic sign...
journal_title:Breast cancer research and treatment
pub_type: 杂志文章
doi:10.1007/s10549-020-05548-y
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journal_title:Breast cancer research and treatment
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journal_title:Breast cancer research and treatment
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doi:10.1007/s10549-005-9150-3
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journal_title:Breast cancer research and treatment
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journal_title:Breast cancer research and treatment
pub_type: 杂志文章
doi:10.1007/s10549-015-3462-8
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journal_title:Breast cancer research and treatment
pub_type: 杂志文章,评审
doi:10.1007/BF00683193
更新日期:1993-01-01 00:00:00
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journal_title:Breast cancer research and treatment
pub_type: 杂志文章
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journal_title:Breast cancer research and treatment
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journal_title:Breast cancer research and treatment
pub_type: 杂志文章
doi:10.1007/s10549-007-9834-y
更新日期:2008-11-01 00:00:00
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journal_title:Breast cancer research and treatment
pub_type: 杂志文章
doi:10.1023/a:1005941117247
更新日期:1998-04-01 00:00:00
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journal_title:Breast cancer research and treatment
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journal_title:Breast cancer research and treatment
pub_type: 杂志文章
doi:10.1007/BF00666212
更新日期:1994-01-01 00:00:00
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journal_title:Breast cancer research and treatment
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更新日期:2014-02-01 00:00:00
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journal_title:Breast cancer research and treatment
pub_type: 杂志文章
doi:10.1023/B:BREA.0000010675.87358.b6
更新日期:2004-01-01 00:00:00
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journal_title:Breast cancer research and treatment
pub_type: 杂志文章
doi:10.1007/s10549-005-2116-7
更新日期:2005-07-01 00:00:00
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journal_title:Breast cancer research and treatment
pub_type: 临床试验,杂志文章
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更新日期:1996-01-01 00:00:00
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journal_title:Breast cancer research and treatment
pub_type: 杂志文章
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journal_title:Breast cancer research and treatment
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更新日期:2013-01-01 00:00:00
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journal_title:Breast cancer research and treatment
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更新日期:2006-05-01 00:00:00
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journal_title:Breast cancer research and treatment
pub_type: 杂志文章,meta分析,评审
doi:10.1007/s10549-011-1818-2
更新日期:2012-04-01 00:00:00
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journal_title:Breast cancer research and treatment
pub_type: 杂志文章
doi:10.1007/s10549-015-3287-5
更新日期:2015-02-01 00:00:00
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journal_title:Breast cancer research and treatment
pub_type: 杂志文章
doi:10.1023/a:1006490200335
更新日期:2001-01-01 00:00:00
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journal_title:Breast cancer research and treatment
pub_type: 杂志文章,meta分析
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更新日期:2020-01-01 00:00:00
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journal_title:Breast cancer research and treatment
pub_type: 杂志文章
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更新日期:2014-07-01 00:00:00
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doi:10.1007/s10549-017-4315-4
更新日期:2017-09-01 00:00:00
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journal_title:Breast cancer research and treatment
pub_type: 杂志文章
doi:10.1007/BF01806694
更新日期:1987-01-01 00:00:00
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更新日期:2020-01-01 00:00:00