Two BRCA1/2 founder mutations in Jews of Sephardic origin
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...
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| Veröffentlicht in: | Familial cancer 2011-03, Vol.10 (1), p.59-63 |
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| creator | Sagi, Michal Eilat, Avital Ben Avi, Liat Goldberg, Yael Bercovich, Dani Hamburger, Tamar Peretz, Tamar Lerer, Israela |
| description | 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. |
| doi_str_mv | 10.1007/s10689-010-9395-9 |
| format | Article |
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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.</description><identifier>ISSN: 1389-9600</identifier><identifier>EISSN: 1573-7292</identifier><identifier>DOI: 10.1007/s10689-010-9395-9</identifier><identifier>PMID: 21063910</identifier><identifier>CODEN: FCAAAJ</identifier><language>eng</language><publisher>Dordrecht: Springer Netherlands</publisher><subject>Adult ; Africa, Northern ; Aged ; Biomedical and Life Sciences ; Biomedicine ; BRCA1 Protein - genetics ; BRCA2 Protein - genetics ; Breast Neoplasms - genetics ; Breast Neoplasms - pathology ; Cancer Research ; Epidemiology ; Ethnic Groups - genetics ; Female ; Founder Effect ; Genetic Predisposition to Disease ; Genetic Testing ; Haplotypes - genetics ; Heterozygote ; Human Genetics ; Humans ; Jews - genetics ; Male ; Middle Aged ; Middle East ; Mutation - genetics ; Ovarian Neoplasms - genetics ; Ovarian Neoplasms - pathology ; Pedigree ; Risk Factors ; Young Adult</subject><ispartof>Familial cancer, 2011-03, Vol.10 (1), p.59-63</ispartof><rights>Springer Science+Business Media B.V. 2010</rights><rights>Springer Science+Business Media B.V. 2011</rights><lds50>peer_reviewed</lds50><woscitedreferencessubscribed>false</woscitedreferencessubscribed><citedby>FETCH-LOGICAL-c370t-1a1b16691d17c0dbdfbda9a184fcb841b047a596fbeb4c22075fc3d2d836e3e43</citedby><cites>FETCH-LOGICAL-c370t-1a1b16691d17c0dbdfbda9a184fcb841b047a596fbeb4c22075fc3d2d836e3e43</cites></display><links><openurl>$$Topenurl_article</openurl><openurlfulltext>$$Topenurlfull_article</openurlfulltext><thumbnail>$$Tsyndetics_thumb_exl</thumbnail><linktopdf>$$Uhttps://link.springer.com/content/pdf/10.1007/s10689-010-9395-9$$EPDF$$P50$$Gspringer$$H</linktopdf><linktohtml>$$Uhttps://link.springer.com/10.1007/s10689-010-9395-9$$EHTML$$P50$$Gspringer$$H</linktohtml><link.rule.ids>314,776,780,27903,27904,41467,42536,51297</link.rule.ids><backlink>$$Uhttps://www.ncbi.nlm.nih.gov/pubmed/21063910$$D View this record in MEDLINE/PubMed$$Hfree_for_read</backlink></links><search><creatorcontrib>Sagi, Michal</creatorcontrib><creatorcontrib>Eilat, Avital</creatorcontrib><creatorcontrib>Ben Avi, Liat</creatorcontrib><creatorcontrib>Goldberg, Yael</creatorcontrib><creatorcontrib>Bercovich, Dani</creatorcontrib><creatorcontrib>Hamburger, Tamar</creatorcontrib><creatorcontrib>Peretz, Tamar</creatorcontrib><creatorcontrib>Lerer, Israela</creatorcontrib><title>Two BRCA1/2 founder mutations in Jews of Sephardic origin</title><title>Familial cancer</title><addtitle>Familial Cancer</addtitle><addtitle>Fam Cancer</addtitle><description>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.</description><subject>Adult</subject><subject>Africa, Northern</subject><subject>Aged</subject><subject>Biomedical and Life Sciences</subject><subject>Biomedicine</subject><subject>BRCA1 Protein - genetics</subject><subject>BRCA2 Protein - genetics</subject><subject>Breast Neoplasms - genetics</subject><subject>Breast Neoplasms - pathology</subject><subject>Cancer Research</subject><subject>Epidemiology</subject><subject>Ethnic Groups - genetics</subject><subject>Female</subject><subject>Founder Effect</subject><subject>Genetic Predisposition to Disease</subject><subject>Genetic Testing</subject><subject>Haplotypes - genetics</subject><subject>Heterozygote</subject><subject>Human Genetics</subject><subject>Humans</subject><subject>Jews - genetics</subject><subject>Male</subject><subject>Middle Aged</subject><subject>Middle East</subject><subject>Mutation - genetics</subject><subject>Ovarian Neoplasms - genetics</subject><subject>Ovarian Neoplasms - pathology</subject><subject>Pedigree</subject><subject>Risk Factors</subject><subject>Young Adult</subject><issn>1389-9600</issn><issn>1573-7292</issn><fulltext>true</fulltext><rsrctype>article</rsrctype><creationdate>2011</creationdate><recordtype>article</recordtype><sourceid>EIF</sourceid><sourceid>8G5</sourceid><sourceid>ABUWG</sourceid><sourceid>AFKRA</sourceid><sourceid>AZQEC</sourceid><sourceid>BENPR</sourceid><sourceid>CCPQU</sourceid><sourceid>DWQXO</sourceid><sourceid>GNUQQ</sourceid><sourceid>GUQSH</sourceid><sourceid>M2O</sourceid><recordid>eNp1kN9LwzAQx4Mobk7_AF-k-OJT3V3SNs3jHP5kIOh8LmmTzI6tmUnL8L83o1NB8OVycJ_75vgQco5wjQB87BGyXMSAEAsm0lgckCGmnMWcCnoYehamIgMYkBPvlwAUKOPHZEDDIhMIQyLmWxvdvEwnOKaRsV2jtIvWXSvb2jY-qpvoSW99ZE30qjfv0qm6iqyrF3VzSo6MXHl9tn9H5O3udj59iGfP94_TySyuGIc2RoklZplAhbwCVSpTKikk5ompyjzBEhIuU5GZUpdJRSnw1FRMUZWzTDOdsBG56nM3zn502rfFuvaVXq1ko23nizzFhKdUsEBe_iGXtnNNOC5AEG7IWRog7KHKWe-dNsXG1WvpPguEYme16K0WwWqxsxrKiFzsg7tyrdXPxrfGANAe8GHULLT7_fn_1C8ZToAL</recordid><startdate>20110301</startdate><enddate>20110301</enddate><creator>Sagi, Michal</creator><creator>Eilat, Avital</creator><creator>Ben Avi, Liat</creator><creator>Goldberg, Yael</creator><creator>Bercovich, Dani</creator><creator>Hamburger, Tamar</creator><creator>Peretz, Tamar</creator><creator>Lerer, Israela</creator><general>Springer Netherlands</general><general>Springer Nature B.V</general><scope>CGR</scope><scope>CUY</scope><scope>CVF</scope><scope>ECM</scope><scope>EIF</scope><scope>NPM</scope><scope>AAYXX</scope><scope>CITATION</scope><scope>3V.</scope><scope>7X7</scope><scope>7XB</scope><scope>88E</scope><scope>8AO</scope><scope>8FD</scope><scope>8FI</scope><scope>8FJ</scope><scope>8FK</scope><scope>8G5</scope><scope>ABUWG</scope><scope>AFKRA</scope><scope>AZQEC</scope><scope>BENPR</scope><scope>CCPQU</scope><scope>DWQXO</scope><scope>FR3</scope><scope>FYUFA</scope><scope>GHDGH</scope><scope>GNUQQ</scope><scope>GUQSH</scope><scope>K9-</scope><scope>K9.</scope><scope>M0R</scope><scope>M0S</scope><scope>M1P</scope><scope>M2O</scope><scope>MBDVC</scope><scope>P64</scope><scope>PQEST</scope><scope>PQQKQ</scope><scope>PQUKI</scope><scope>Q9U</scope><scope>RC3</scope><scope>7X8</scope></search><sort><creationdate>20110301</creationdate><title>Two BRCA1/2 founder mutations in Jews of Sephardic origin</title><author>Sagi, Michal ; 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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.</abstract><cop>Dordrecht</cop><pub>Springer Netherlands</pub><pmid>21063910</pmid><doi>10.1007/s10689-010-9395-9</doi><tpages>5</tpages></addata></record> |
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| subjects | Adult Africa, Northern Aged Biomedical and Life Sciences Biomedicine BRCA1 Protein - genetics BRCA2 Protein - genetics Breast Neoplasms - genetics Breast Neoplasms - pathology Cancer Research Epidemiology Ethnic Groups - genetics Female Founder Effect Genetic Predisposition to Disease Genetic Testing Haplotypes - genetics Heterozygote Human Genetics Humans Jews - genetics Male Middle Aged Middle East Mutation - genetics Ovarian Neoplasms - genetics Ovarian Neoplasms - pathology Pedigree Risk Factors Young Adult |
| title | Two BRCA1/2 founder mutations in Jews of Sephardic origin |
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