| Title |
Two BRCA1/2 founder mutations in Jews of Sephardic origin
|
|---|---|
| Published in |
Familial Cancer, November 2010
|
| DOI | 10.1007/s10689-010-9395-9 |
| Pubmed ID | |
| Authors |
Michal Sagi, Avital Eilat, Liat Ben Avi, Yael Goldberg, Dani Bercovich, Tamar Hamburger, Tamar Peretz, Israela Lerer |
| Abstract |
Founder mutations in BRCA1/2 genes have been detected in several Jewish communities in Israel, including in Ashkenazi Jews and Jews who immigrated to Israel from Iraq, Yemen, Iran and Afghanistan. We analyzed DNA samples of patients of Sephardic origin (descendents of Jews from the Iberian Peninsula) with breast cancer (BC) and/or ovarian cancer (OC) and additional family history of these cancers. In this study we identified 2 mutations: p.A1708E in BRCA1 and c.67 + 1G > A (IVS2 + 1G > A) in BRCA2, each in 3 unrelated patients. The frequency of the two mutations was 26-31% among Sephardic high risk families and about 3% among the full cohort of 177 patients of this origin who were tested in our center. Based on haplotype analysis we concluded that these mutations are most probably founder mutations in Sephardic Jews. We recommend testing the two mutations in women of Sephardic origin who apply for BRCA testing because of personal and/or family history of BC and/or OC. Furthermore, we suggest adding them to the 5 mutations included in "The Jewish panel" of BRCA1/2 mutations that are being tested in Israel. |
X Demographics
The data shown below were collected from the profiles of 6 X users who shared this research output. Click here to find out more about how the information was compiled.
Geographical breakdown
| Country | Count | As % |
|---|---|---|
| Israel | 1 | 17% |
| Netherlands | 1 | 17% |
| Unknown | 4 | 67% |
Demographic breakdown
| Type | Count | As % |
|---|---|---|
| Members of the public | 5 | 83% |
| Scientists | 1 | 17% |
Mendeley readers
The data shown below were compiled from readership statistics for 49 Mendeley readers of this research output. Click here to see the associated Mendeley record.
Geographical breakdown
| Country | Count | As % |
|---|---|---|
| Unknown | 49 | 100% |
Demographic breakdown
| Readers by professional status | Count | As % |
|---|---|---|
| Researcher | 10 | 20% |
| Student > Ph. D. Student | 9 | 18% |
| Student > Doctoral Student | 5 | 10% |
| Student > Master | 4 | 8% |
| Other | 3 | 6% |
| Other | 9 | 18% |
| Unknown | 9 | 18% |
| Readers by discipline | Count | As % |
|---|---|---|
| Medicine and Dentistry | 13 | 27% |
| Biochemistry, Genetics and Molecular Biology | 9 | 18% |
| Agricultural and Biological Sciences | 8 | 16% |
| Economics, Econometrics and Finance | 2 | 4% |
| Business, Management and Accounting | 1 | 2% |
| Other | 5 | 10% |
| Unknown | 11 | 22% |
Attention Score in Context
This research output has an Altmetric Attention Score of 5. This is our high-level measure of the quality and quantity of online attention that it has received. This Attention Score, as well as the ranking and number of research outputs shown below, was calculated when the research output was last mentioned on 06 July 2023.
All research outputs
#7,212,765
of 25,413,176 outputs
Outputs from Familial Cancer
#148
of 583 outputs
Outputs of similar age
#35,365
of 110,854 outputs
Outputs of similar age from Familial Cancer
#1
of 3 outputs
Altmetric has tracked 25,413,176 research outputs across all sources so far. This one has received more attention than most of these and is in the 71st percentile.
So far Altmetric has tracked 583 research outputs from this source. They receive a mean Attention Score of 4.4. This one has gotten more attention than average, scoring higher than 74% of its peers.
Older research outputs will score higher simply because they've had more time to accumulate mentions. To account for age we can compare this Altmetric Attention Score to the 110,854 tracked outputs that were published within six weeks on either side of this one in any source. This one has gotten more attention than average, scoring higher than 68% of its contemporaries.
We're also able to compare this research output to 3 others from the same source and published within six weeks on either side of this one. This one has scored higher than all of them