BRCA mutation screening and patterns among high-risk Lebanese subjects

Abstract Background Previous studies have suggested that the prevalence of BRCA1 and 2 mutations in the Lebanese population is low despite the observation that the median age of breast cancer diagnosis is significantly lower than European and North American populations. We aimed at reviewing the rat...
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Autor*in:	Chantal Farra [verfasserIn] Christelle Dagher [verfasserIn] Rebecca Badra [verfasserIn] Miza Salim Hammoud [verfasserIn] Raafat Alameddine [verfasserIn] Johnny Awwad [verfasserIn] Muhieddine Seoud [verfasserIn] Jaber Abbas [verfasserIn] Fouad Boulos [verfasserIn] Nagi El Saghir [verfasserIn] Deborah Mukherji [verfasserIn]

Format:	E-Artikel
Sprache:	Englisch

Erschienen:	2019

Schlagwörter:	BRCA1 BRCA2 Manchester score Familial Lebanon

Übergeordnetes Werk:	In: Hereditary Cancer in Clinical Practice - BMC, 2010, 17(2019), 1, Seite 7
Übergeordnetes Werk:	volume:17 ; year:2019 ; number:1 ; pages:7

Links:	Link aufrufen Link aufrufen Link aufrufen Journal toc

DOI / URN:	10.1186/s13053-019-0105-9

Katalog-ID:	DOAJ012801429

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520			\|a Abstract Background Previous studies have suggested that the prevalence of BRCA1 and 2 mutations in the Lebanese population is low despite the observation that the median age of breast cancer diagnosis is significantly lower than European and North American populations. We aimed at reviewing the rates and patterns of BRCA1/2 mutations found in individuals referred to the medical genetics unit at the American University of Beirut. We also evaluated the performance of clinical prediction tools. Methods We retrospectively reviewed the cases of all individuals undergoing BRCA mutation testing from April 2011 to May 2016. To put our findings in to context, we conducted a literature review of the most recently published data from the region. Results Two-hundred eighty one individuals were referred for testing. The prevalence of mutated BRCA1 or 2 genes were 6 and 1.4% respectively. Three mutations accounted for 54% of the pathogenic mutations found. The BRCA1 c.131G < T mutation was found among 5/17 (29%) unrelated subjects with BRCA1 mutation and is unique to the Lebanese and Palestinian populations. For patients tested between 2014 and 2016, all patients positive for mutations fit the NCCN guidelines for BRCA mutation screening. The Manchester Score failed to predict pathogenic mutations. Conclusion The BRCA1 c.131G < T mutation can be considered a founder mutation in the Lebanese population detected among 5/17 (29%) of individuals diagnosed with a mutation in BRCA1 and among 7/269 families in this cohort. On review of recently published data regarding the landscape of BRCA mutations in the Middle East and North Africa, each region appears to have a unique spectrum of mutations.
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allfields	10.1186/s13053-019-0105-9 doi (DE-627)DOAJ012801429 (DE-599)DOAJ766437263e894151ba20442bc3daa864 DE-627 ger DE-627 rakwb eng RC254-282 QH426-470 Chantal Farra verfasserin aut BRCA mutation screening and patterns among high-risk Lebanese subjects 2019 Text txt rdacontent Computermedien c rdamedia Online-Ressource cr rdacarrier Abstract Background Previous studies have suggested that the prevalence of BRCA1 and 2 mutations in the Lebanese population is low despite the observation that the median age of breast cancer diagnosis is significantly lower than European and North American populations. We aimed at reviewing the rates and patterns of BRCA1/2 mutations found in individuals referred to the medical genetics unit at the American University of Beirut. We also evaluated the performance of clinical prediction tools. Methods We retrospectively reviewed the cases of all individuals undergoing BRCA mutation testing from April 2011 to May 2016. To put our findings in to context, we conducted a literature review of the most recently published data from the region. Results Two-hundred eighty one individuals were referred for testing. The prevalence of mutated BRCA1 or 2 genes were 6 and 1.4% respectively. Three mutations accounted for 54% of the pathogenic mutations found. The BRCA1 c.131G < T mutation was found among 5/17 (29%) unrelated subjects with BRCA1 mutation and is unique to the Lebanese and Palestinian populations. For patients tested between 2014 and 2016, all patients positive for mutations fit the NCCN guidelines for BRCA mutation screening. The Manchester Score failed to predict pathogenic mutations. Conclusion The BRCA1 c.131G < T mutation can be considered a founder mutation in the Lebanese population detected among 5/17 (29%) of individuals diagnosed with a mutation in BRCA1 and among 7/269 families in this cohort. On review of recently published data regarding the landscape of BRCA mutations in the Middle East and North Africa, each region appears to have a unique spectrum of mutations. BRCA1 BRCA2 Manchester score Familial Lebanon Neoplasms. Tumors. Oncology. Including cancer and carcinogens Genetics Christelle Dagher verfasserin aut Rebecca Badra verfasserin aut Miza Salim Hammoud verfasserin aut Raafat Alameddine verfasserin aut Johnny Awwad verfasserin aut Muhieddine Seoud verfasserin aut Jaber Abbas verfasserin aut Fouad Boulos verfasserin aut Nagi El Saghir verfasserin aut Deborah Mukherji verfasserin aut In Hereditary Cancer in Clinical Practice BMC, 2010 17(2019), 1, Seite 7 (DE-627)511229925 (DE-600)2233352-6 18974287 nnns volume:17 year:2019 number:1 pages:7 https://doi.org/10.1186/s13053-019-0105-9 kostenfrei https://doaj.org/article/766437263e894151ba20442bc3daa864 kostenfrei http://link.springer.com/article/10.1186/s13053-019-0105-9 kostenfrei https://doaj.org/toc/1897-4287 Journal toc kostenfrei GBV_USEFLAG_A SYSFLAG_A GBV_DOAJ GBV_ILN_11 GBV_ILN_20 GBV_ILN_22 GBV_ILN_23 GBV_ILN_24 GBV_ILN_39 GBV_ILN_40 GBV_ILN_60 GBV_ILN_62 GBV_ILN_63 GBV_ILN_65 GBV_ILN_69 GBV_ILN_73 GBV_ILN_74 GBV_ILN_95 GBV_ILN_105 GBV_ILN_110 GBV_ILN_151 GBV_ILN_161 GBV_ILN_170 GBV_ILN_206 GBV_ILN_213 GBV_ILN_230 GBV_ILN_285 GBV_ILN_293 GBV_ILN_602 GBV_ILN_2003 GBV_ILN_2005 GBV_ILN_2007 GBV_ILN_2009 GBV_ILN_2011 GBV_ILN_2014 GBV_ILN_2055 GBV_ILN_2111 GBV_ILN_4012 GBV_ILN_4037 GBV_ILN_4112 GBV_ILN_4125 GBV_ILN_4126 GBV_ILN_4249 GBV_ILN_4305 GBV_ILN_4306 GBV_ILN_4307 GBV_ILN_4313 GBV_ILN_4322 GBV_ILN_4323 GBV_ILN_4324 GBV_ILN_4325 GBV_ILN_4338 GBV_ILN_4367 GBV_ILN_4700 AR 17 2019 1 7
spelling	10.1186/s13053-019-0105-9 doi (DE-627)DOAJ012801429 (DE-599)DOAJ766437263e894151ba20442bc3daa864 DE-627 ger DE-627 rakwb eng RC254-282 QH426-470 Chantal Farra verfasserin aut BRCA mutation screening and patterns among high-risk Lebanese subjects 2019 Text txt rdacontent Computermedien c rdamedia Online-Ressource cr rdacarrier Abstract Background Previous studies have suggested that the prevalence of BRCA1 and 2 mutations in the Lebanese population is low despite the observation that the median age of breast cancer diagnosis is significantly lower than European and North American populations. We aimed at reviewing the rates and patterns of BRCA1/2 mutations found in individuals referred to the medical genetics unit at the American University of Beirut. We also evaluated the performance of clinical prediction tools. Methods We retrospectively reviewed the cases of all individuals undergoing BRCA mutation testing from April 2011 to May 2016. To put our findings in to context, we conducted a literature review of the most recently published data from the region. Results Two-hundred eighty one individuals were referred for testing. The prevalence of mutated BRCA1 or 2 genes were 6 and 1.4% respectively. Three mutations accounted for 54% of the pathogenic mutations found. The BRCA1 c.131G < T mutation was found among 5/17 (29%) unrelated subjects with BRCA1 mutation and is unique to the Lebanese and Palestinian populations. For patients tested between 2014 and 2016, all patients positive for mutations fit the NCCN guidelines for BRCA mutation screening. The Manchester Score failed to predict pathogenic mutations. Conclusion The BRCA1 c.131G < T mutation can be considered a founder mutation in the Lebanese population detected among 5/17 (29%) of individuals diagnosed with a mutation in BRCA1 and among 7/269 families in this cohort. On review of recently published data regarding the landscape of BRCA mutations in the Middle East and North Africa, each region appears to have a unique spectrum of mutations. BRCA1 BRCA2 Manchester score Familial Lebanon Neoplasms. Tumors. Oncology. Including cancer and carcinogens Genetics Christelle Dagher verfasserin aut Rebecca Badra verfasserin aut Miza Salim Hammoud verfasserin aut Raafat Alameddine verfasserin aut Johnny Awwad verfasserin aut Muhieddine Seoud verfasserin aut Jaber Abbas verfasserin aut Fouad Boulos verfasserin aut Nagi El Saghir verfasserin aut Deborah Mukherji verfasserin aut In Hereditary Cancer in Clinical Practice BMC, 2010 17(2019), 1, Seite 7 (DE-627)511229925 (DE-600)2233352-6 18974287 nnns volume:17 year:2019 number:1 pages:7 https://doi.org/10.1186/s13053-019-0105-9 kostenfrei https://doaj.org/article/766437263e894151ba20442bc3daa864 kostenfrei http://link.springer.com/article/10.1186/s13053-019-0105-9 kostenfrei https://doaj.org/toc/1897-4287 Journal toc kostenfrei GBV_USEFLAG_A SYSFLAG_A GBV_DOAJ GBV_ILN_11 GBV_ILN_20 GBV_ILN_22 GBV_ILN_23 GBV_ILN_24 GBV_ILN_39 GBV_ILN_40 GBV_ILN_60 GBV_ILN_62 GBV_ILN_63 GBV_ILN_65 GBV_ILN_69 GBV_ILN_73 GBV_ILN_74 GBV_ILN_95 GBV_ILN_105 GBV_ILN_110 GBV_ILN_151 GBV_ILN_161 GBV_ILN_170 GBV_ILN_206 GBV_ILN_213 GBV_ILN_230 GBV_ILN_285 GBV_ILN_293 GBV_ILN_602 GBV_ILN_2003 GBV_ILN_2005 GBV_ILN_2007 GBV_ILN_2009 GBV_ILN_2011 GBV_ILN_2014 GBV_ILN_2055 GBV_ILN_2111 GBV_ILN_4012 GBV_ILN_4037 GBV_ILN_4112 GBV_ILN_4125 GBV_ILN_4126 GBV_ILN_4249 GBV_ILN_4305 GBV_ILN_4306 GBV_ILN_4307 GBV_ILN_4313 GBV_ILN_4322 GBV_ILN_4323 GBV_ILN_4324 GBV_ILN_4325 GBV_ILN_4338 GBV_ILN_4367 GBV_ILN_4700 AR 17 2019 1 7
allfields_unstemmed	10.1186/s13053-019-0105-9 doi (DE-627)DOAJ012801429 (DE-599)DOAJ766437263e894151ba20442bc3daa864 DE-627 ger DE-627 rakwb eng RC254-282 QH426-470 Chantal Farra verfasserin aut BRCA mutation screening and patterns among high-risk Lebanese subjects 2019 Text txt rdacontent Computermedien c rdamedia Online-Ressource cr rdacarrier Abstract Background Previous studies have suggested that the prevalence of BRCA1 and 2 mutations in the Lebanese population is low despite the observation that the median age of breast cancer diagnosis is significantly lower than European and North American populations. We aimed at reviewing the rates and patterns of BRCA1/2 mutations found in individuals referred to the medical genetics unit at the American University of Beirut. We also evaluated the performance of clinical prediction tools. Methods We retrospectively reviewed the cases of all individuals undergoing BRCA mutation testing from April 2011 to May 2016. To put our findings in to context, we conducted a literature review of the most recently published data from the region. Results Two-hundred eighty one individuals were referred for testing. The prevalence of mutated BRCA1 or 2 genes were 6 and 1.4% respectively. Three mutations accounted for 54% of the pathogenic mutations found. The BRCA1 c.131G < T mutation was found among 5/17 (29%) unrelated subjects with BRCA1 mutation and is unique to the Lebanese and Palestinian populations. For patients tested between 2014 and 2016, all patients positive for mutations fit the NCCN guidelines for BRCA mutation screening. The Manchester Score failed to predict pathogenic mutations. Conclusion The BRCA1 c.131G < T mutation can be considered a founder mutation in the Lebanese population detected among 5/17 (29%) of individuals diagnosed with a mutation in BRCA1 and among 7/269 families in this cohort. On review of recently published data regarding the landscape of BRCA mutations in the Middle East and North Africa, each region appears to have a unique spectrum of mutations. BRCA1 BRCA2 Manchester score Familial Lebanon Neoplasms. Tumors. Oncology. Including cancer and carcinogens Genetics Christelle Dagher verfasserin aut Rebecca Badra verfasserin aut Miza Salim Hammoud verfasserin aut Raafat Alameddine verfasserin aut Johnny Awwad verfasserin aut Muhieddine Seoud verfasserin aut Jaber Abbas verfasserin aut Fouad Boulos verfasserin aut Nagi El Saghir verfasserin aut Deborah Mukherji verfasserin aut In Hereditary Cancer in Clinical Practice BMC, 2010 17(2019), 1, Seite 7 (DE-627)511229925 (DE-600)2233352-6 18974287 nnns volume:17 year:2019 number:1 pages:7 https://doi.org/10.1186/s13053-019-0105-9 kostenfrei https://doaj.org/article/766437263e894151ba20442bc3daa864 kostenfrei http://link.springer.com/article/10.1186/s13053-019-0105-9 kostenfrei https://doaj.org/toc/1897-4287 Journal toc kostenfrei GBV_USEFLAG_A SYSFLAG_A GBV_DOAJ GBV_ILN_11 GBV_ILN_20 GBV_ILN_22 GBV_ILN_23 GBV_ILN_24 GBV_ILN_39 GBV_ILN_40 GBV_ILN_60 GBV_ILN_62 GBV_ILN_63 GBV_ILN_65 GBV_ILN_69 GBV_ILN_73 GBV_ILN_74 GBV_ILN_95 GBV_ILN_105 GBV_ILN_110 GBV_ILN_151 GBV_ILN_161 GBV_ILN_170 GBV_ILN_206 GBV_ILN_213 GBV_ILN_230 GBV_ILN_285 GBV_ILN_293 GBV_ILN_602 GBV_ILN_2003 GBV_ILN_2005 GBV_ILN_2007 GBV_ILN_2009 GBV_ILN_2011 GBV_ILN_2014 GBV_ILN_2055 GBV_ILN_2111 GBV_ILN_4012 GBV_ILN_4037 GBV_ILN_4112 GBV_ILN_4125 GBV_ILN_4126 GBV_ILN_4249 GBV_ILN_4305 GBV_ILN_4306 GBV_ILN_4307 GBV_ILN_4313 GBV_ILN_4322 GBV_ILN_4323 GBV_ILN_4324 GBV_ILN_4325 GBV_ILN_4338 GBV_ILN_4367 GBV_ILN_4700 AR 17 2019 1 7
allfieldsGer	10.1186/s13053-019-0105-9 doi (DE-627)DOAJ012801429 (DE-599)DOAJ766437263e894151ba20442bc3daa864 DE-627 ger DE-627 rakwb eng RC254-282 QH426-470 Chantal Farra verfasserin aut BRCA mutation screening and patterns among high-risk Lebanese subjects 2019 Text txt rdacontent Computermedien c rdamedia Online-Ressource cr rdacarrier Abstract Background Previous studies have suggested that the prevalence of BRCA1 and 2 mutations in the Lebanese population is low despite the observation that the median age of breast cancer diagnosis is significantly lower than European and North American populations. We aimed at reviewing the rates and patterns of BRCA1/2 mutations found in individuals referred to the medical genetics unit at the American University of Beirut. We also evaluated the performance of clinical prediction tools. Methods We retrospectively reviewed the cases of all individuals undergoing BRCA mutation testing from April 2011 to May 2016. To put our findings in to context, we conducted a literature review of the most recently published data from the region. Results Two-hundred eighty one individuals were referred for testing. The prevalence of mutated BRCA1 or 2 genes were 6 and 1.4% respectively. Three mutations accounted for 54% of the pathogenic mutations found. The BRCA1 c.131G < T mutation was found among 5/17 (29%) unrelated subjects with BRCA1 mutation and is unique to the Lebanese and Palestinian populations. For patients tested between 2014 and 2016, all patients positive for mutations fit the NCCN guidelines for BRCA mutation screening. The Manchester Score failed to predict pathogenic mutations. Conclusion The BRCA1 c.131G < T mutation can be considered a founder mutation in the Lebanese population detected among 5/17 (29%) of individuals diagnosed with a mutation in BRCA1 and among 7/269 families in this cohort. On review of recently published data regarding the landscape of BRCA mutations in the Middle East and North Africa, each region appears to have a unique spectrum of mutations. BRCA1 BRCA2 Manchester score Familial Lebanon Neoplasms. Tumors. Oncology. Including cancer and carcinogens Genetics Christelle Dagher verfasserin aut Rebecca Badra verfasserin aut Miza Salim Hammoud verfasserin aut Raafat Alameddine verfasserin aut Johnny Awwad verfasserin aut Muhieddine Seoud verfasserin aut Jaber Abbas verfasserin aut Fouad Boulos verfasserin aut Nagi El Saghir verfasserin aut Deborah Mukherji verfasserin aut In Hereditary Cancer in Clinical Practice BMC, 2010 17(2019), 1, Seite 7 (DE-627)511229925 (DE-600)2233352-6 18974287 nnns volume:17 year:2019 number:1 pages:7 https://doi.org/10.1186/s13053-019-0105-9 kostenfrei https://doaj.org/article/766437263e894151ba20442bc3daa864 kostenfrei http://link.springer.com/article/10.1186/s13053-019-0105-9 kostenfrei https://doaj.org/toc/1897-4287 Journal toc kostenfrei GBV_USEFLAG_A SYSFLAG_A GBV_DOAJ GBV_ILN_11 GBV_ILN_20 GBV_ILN_22 GBV_ILN_23 GBV_ILN_24 GBV_ILN_39 GBV_ILN_40 GBV_ILN_60 GBV_ILN_62 GBV_ILN_63 GBV_ILN_65 GBV_ILN_69 GBV_ILN_73 GBV_ILN_74 GBV_ILN_95 GBV_ILN_105 GBV_ILN_110 GBV_ILN_151 GBV_ILN_161 GBV_ILN_170 GBV_ILN_206 GBV_ILN_213 GBV_ILN_230 GBV_ILN_285 GBV_ILN_293 GBV_ILN_602 GBV_ILN_2003 GBV_ILN_2005 GBV_ILN_2007 GBV_ILN_2009 GBV_ILN_2011 GBV_ILN_2014 GBV_ILN_2055 GBV_ILN_2111 GBV_ILN_4012 GBV_ILN_4037 GBV_ILN_4112 GBV_ILN_4125 GBV_ILN_4126 GBV_ILN_4249 GBV_ILN_4305 GBV_ILN_4306 GBV_ILN_4307 GBV_ILN_4313 GBV_ILN_4322 GBV_ILN_4323 GBV_ILN_4324 GBV_ILN_4325 GBV_ILN_4338 GBV_ILN_4367 GBV_ILN_4700 AR 17 2019 1 7
allfieldsSound	10.1186/s13053-019-0105-9 doi (DE-627)DOAJ012801429 (DE-599)DOAJ766437263e894151ba20442bc3daa864 DE-627 ger DE-627 rakwb eng RC254-282 QH426-470 Chantal Farra verfasserin aut BRCA mutation screening and patterns among high-risk Lebanese subjects 2019 Text txt rdacontent Computermedien c rdamedia Online-Ressource cr rdacarrier Abstract Background Previous studies have suggested that the prevalence of BRCA1 and 2 mutations in the Lebanese population is low despite the observation that the median age of breast cancer diagnosis is significantly lower than European and North American populations. We aimed at reviewing the rates and patterns of BRCA1/2 mutations found in individuals referred to the medical genetics unit at the American University of Beirut. We also evaluated the performance of clinical prediction tools. Methods We retrospectively reviewed the cases of all individuals undergoing BRCA mutation testing from April 2011 to May 2016. To put our findings in to context, we conducted a literature review of the most recently published data from the region. Results Two-hundred eighty one individuals were referred for testing. The prevalence of mutated BRCA1 or 2 genes were 6 and 1.4% respectively. Three mutations accounted for 54% of the pathogenic mutations found. The BRCA1 c.131G < T mutation was found among 5/17 (29%) unrelated subjects with BRCA1 mutation and is unique to the Lebanese and Palestinian populations. For patients tested between 2014 and 2016, all patients positive for mutations fit the NCCN guidelines for BRCA mutation screening. The Manchester Score failed to predict pathogenic mutations. Conclusion The BRCA1 c.131G < T mutation can be considered a founder mutation in the Lebanese population detected among 5/17 (29%) of individuals diagnosed with a mutation in BRCA1 and among 7/269 families in this cohort. On review of recently published data regarding the landscape of BRCA mutations in the Middle East and North Africa, each region appears to have a unique spectrum of mutations. BRCA1 BRCA2 Manchester score Familial Lebanon Neoplasms. Tumors. Oncology. Including cancer and carcinogens Genetics Christelle Dagher verfasserin aut Rebecca Badra verfasserin aut Miza Salim Hammoud verfasserin aut Raafat Alameddine verfasserin aut Johnny Awwad verfasserin aut Muhieddine Seoud verfasserin aut Jaber Abbas verfasserin aut Fouad Boulos verfasserin aut Nagi El Saghir verfasserin aut Deborah Mukherji verfasserin aut In Hereditary Cancer in Clinical Practice BMC, 2010 17(2019), 1, Seite 7 (DE-627)511229925 (DE-600)2233352-6 18974287 nnns volume:17 year:2019 number:1 pages:7 https://doi.org/10.1186/s13053-019-0105-9 kostenfrei https://doaj.org/article/766437263e894151ba20442bc3daa864 kostenfrei http://link.springer.com/article/10.1186/s13053-019-0105-9 kostenfrei https://doaj.org/toc/1897-4287 Journal toc kostenfrei GBV_USEFLAG_A SYSFLAG_A GBV_DOAJ GBV_ILN_11 GBV_ILN_20 GBV_ILN_22 GBV_ILN_23 GBV_ILN_24 GBV_ILN_39 GBV_ILN_40 GBV_ILN_60 GBV_ILN_62 GBV_ILN_63 GBV_ILN_65 GBV_ILN_69 GBV_ILN_73 GBV_ILN_74 GBV_ILN_95 GBV_ILN_105 GBV_ILN_110 GBV_ILN_151 GBV_ILN_161 GBV_ILN_170 GBV_ILN_206 GBV_ILN_213 GBV_ILN_230 GBV_ILN_285 GBV_ILN_293 GBV_ILN_602 GBV_ILN_2003 GBV_ILN_2005 GBV_ILN_2007 GBV_ILN_2009 GBV_ILN_2011 GBV_ILN_2014 GBV_ILN_2055 GBV_ILN_2111 GBV_ILN_4012 GBV_ILN_4037 GBV_ILN_4112 GBV_ILN_4125 GBV_ILN_4126 GBV_ILN_4249 GBV_ILN_4305 GBV_ILN_4306 GBV_ILN_4307 GBV_ILN_4313 GBV_ILN_4322 GBV_ILN_4323 GBV_ILN_4324 GBV_ILN_4325 GBV_ILN_4338 GBV_ILN_4367 GBV_ILN_4700 AR 17 2019 1 7
language	English
source	In Hereditary Cancer in Clinical Practice 17(2019), 1, Seite 7 volume:17 year:2019 number:1 pages:7
sourceStr	In Hereditary Cancer in Clinical Practice 17(2019), 1, Seite 7 volume:17 year:2019 number:1 pages:7
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callnumber-first	R - Medicine
author	Chantal Farra
spellingShingle	Chantal Farra misc RC254-282 misc QH426-470 misc BRCA1 misc BRCA2 misc Manchester score misc Familial misc Lebanon misc Neoplasms. Tumors. Oncology. Including cancer and carcinogens misc Genetics BRCA mutation screening and patterns among high-risk Lebanese subjects
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topic_title	RC254-282 QH426-470 BRCA mutation screening and patterns among high-risk Lebanese subjects BRCA1 BRCA2 Manchester score Familial Lebanon
topic	misc RC254-282 misc QH426-470 misc BRCA1 misc BRCA2 misc Manchester score misc Familial misc Lebanon misc Neoplasms. Tumors. Oncology. Including cancer and carcinogens misc Genetics
topic_unstemmed	misc RC254-282 misc QH426-470 misc BRCA1 misc BRCA2 misc Manchester score misc Familial misc Lebanon misc Neoplasms. Tumors. Oncology. Including cancer and carcinogens misc Genetics
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title	BRCA mutation screening and patterns among high-risk Lebanese subjects
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title_full	BRCA mutation screening and patterns among high-risk Lebanese subjects
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title_sort	brca mutation screening and patterns among high-risk lebanese subjects
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title_auth	BRCA mutation screening and patterns among high-risk Lebanese subjects
abstract	Abstract Background Previous studies have suggested that the prevalence of BRCA1 and 2 mutations in the Lebanese population is low despite the observation that the median age of breast cancer diagnosis is significantly lower than European and North American populations. We aimed at reviewing the rates and patterns of BRCA1/2 mutations found in individuals referred to the medical genetics unit at the American University of Beirut. We also evaluated the performance of clinical prediction tools. Methods We retrospectively reviewed the cases of all individuals undergoing BRCA mutation testing from April 2011 to May 2016. To put our findings in to context, we conducted a literature review of the most recently published data from the region. Results Two-hundred eighty one individuals were referred for testing. The prevalence of mutated BRCA1 or 2 genes were 6 and 1.4% respectively. Three mutations accounted for 54% of the pathogenic mutations found. The BRCA1 c.131G < T mutation was found among 5/17 (29%) unrelated subjects with BRCA1 mutation and is unique to the Lebanese and Palestinian populations. For patients tested between 2014 and 2016, all patients positive for mutations fit the NCCN guidelines for BRCA mutation screening. The Manchester Score failed to predict pathogenic mutations. Conclusion The BRCA1 c.131G < T mutation can be considered a founder mutation in the Lebanese population detected among 5/17 (29%) of individuals diagnosed with a mutation in BRCA1 and among 7/269 families in this cohort. On review of recently published data regarding the landscape of BRCA mutations in the Middle East and North Africa, each region appears to have a unique spectrum of mutations.
abstractGer	Abstract Background Previous studies have suggested that the prevalence of BRCA1 and 2 mutations in the Lebanese population is low despite the observation that the median age of breast cancer diagnosis is significantly lower than European and North American populations. We aimed at reviewing the rates and patterns of BRCA1/2 mutations found in individuals referred to the medical genetics unit at the American University of Beirut. We also evaluated the performance of clinical prediction tools. Methods We retrospectively reviewed the cases of all individuals undergoing BRCA mutation testing from April 2011 to May 2016. To put our findings in to context, we conducted a literature review of the most recently published data from the region. Results Two-hundred eighty one individuals were referred for testing. The prevalence of mutated BRCA1 or 2 genes were 6 and 1.4% respectively. Three mutations accounted for 54% of the pathogenic mutations found. The BRCA1 c.131G < T mutation was found among 5/17 (29%) unrelated subjects with BRCA1 mutation and is unique to the Lebanese and Palestinian populations. For patients tested between 2014 and 2016, all patients positive for mutations fit the NCCN guidelines for BRCA mutation screening. The Manchester Score failed to predict pathogenic mutations. Conclusion The BRCA1 c.131G < T mutation can be considered a founder mutation in the Lebanese population detected among 5/17 (29%) of individuals diagnosed with a mutation in BRCA1 and among 7/269 families in this cohort. On review of recently published data regarding the landscape of BRCA mutations in the Middle East and North Africa, each region appears to have a unique spectrum of mutations.
abstract_unstemmed	Abstract Background Previous studies have suggested that the prevalence of BRCA1 and 2 mutations in the Lebanese population is low despite the observation that the median age of breast cancer diagnosis is significantly lower than European and North American populations. We aimed at reviewing the rates and patterns of BRCA1/2 mutations found in individuals referred to the medical genetics unit at the American University of Beirut. We also evaluated the performance of clinical prediction tools. Methods We retrospectively reviewed the cases of all individuals undergoing BRCA mutation testing from April 2011 to May 2016. To put our findings in to context, we conducted a literature review of the most recently published data from the region. Results Two-hundred eighty one individuals were referred for testing. The prevalence of mutated BRCA1 or 2 genes were 6 and 1.4% respectively. Three mutations accounted for 54% of the pathogenic mutations found. The BRCA1 c.131G < T mutation was found among 5/17 (29%) unrelated subjects with BRCA1 mutation and is unique to the Lebanese and Palestinian populations. For patients tested between 2014 and 2016, all patients positive for mutations fit the NCCN guidelines for BRCA mutation screening. The Manchester Score failed to predict pathogenic mutations. Conclusion The BRCA1 c.131G < T mutation can be considered a founder mutation in the Lebanese population detected among 5/17 (29%) of individuals diagnosed with a mutation in BRCA1 and among 7/269 families in this cohort. On review of recently published data regarding the landscape of BRCA mutations in the Middle East and North Africa, each region appears to have a unique spectrum of mutations.
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title_short	BRCA mutation screening and patterns among high-risk Lebanese subjects
url	https://doi.org/10.1186/s13053-019-0105-9 https://doaj.org/article/766437263e894151ba20442bc3daa864 http://link.springer.com/article/10.1186/s13053-019-0105-9 https://doaj.org/toc/1897-4287
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We aimed at reviewing the rates and patterns of BRCA1/2 mutations found in individuals referred to the medical genetics unit at the American University of Beirut. We also evaluated the performance of clinical prediction tools. Methods We retrospectively reviewed the cases of all individuals undergoing BRCA mutation testing from April 2011 to May 2016. To put our findings in to context, we conducted a literature review of the most recently published data from the region. Results Two-hundred eighty one individuals were referred for testing. The prevalence of mutated BRCA1 or 2 genes were 6 and 1.4% respectively. Three mutations accounted for 54% of the pathogenic mutations found. The BRCA1 c.131G < T mutation was found among 5/17 (29%) unrelated subjects with BRCA1 mutation and is unique to the Lebanese and Palestinian populations. For patients tested between 2014 and 2016, all patients positive for mutations fit the NCCN guidelines for BRCA mutation screening. The Manchester Score failed to predict pathogenic mutations. Conclusion The BRCA1 c.131G < T mutation can be considered a founder mutation in the Lebanese population detected among 5/17 (29%) of individuals diagnosed with a mutation in BRCA1 and among 7/269 families in this cohort. On review of recently published data regarding the landscape of BRCA mutations in the Middle East and North Africa, each region appears to have a unique spectrum of mutations.</subfield></datafield><datafield tag="650" ind1=" " ind2="4"><subfield code="a">BRCA1</subfield></datafield><datafield tag="650" ind1=" " ind2="4"><subfield code="a">BRCA2</subfield></datafield><datafield tag="650" ind1=" " ind2="4"><subfield code="a">Manchester score</subfield></datafield><datafield tag="650" ind1=" " ind2="4"><subfield code="a">Familial</subfield></datafield><datafield tag="650" ind1=" " ind2="4"><subfield code="a">Lebanon</subfield></datafield><datafield tag="653" ind1=" " ind2="0"><subfield code="a">Neoplasms. Tumors. Oncology. 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BRCA mutation screening and patterns among high-risk Lebanese subjects

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