Spectrum of Germline Pathogenic Variants in BRCA1/2 Genes in the Apulian Southern Italy Population: Geographic Distribution and Evidence for Targeted Genetic Testing
BRCA1/2-associated hereditary breast and ovarian cancer is the most common form of hereditary breast and ovarian cancer and occurs in all ethnicities and racial populations. Different BRCA1/BRCA2 pathogenic variants (PVs) have been reported with a wide variety among populations. In this study, we re...
Gespeichert in:
| Veröffentlicht in: | Cancers Jg. 13; H. 18; S. 4714 |
|---|---|
| Hauptverfasser: | , , , , , , , , , , , , , , |
| Format: | Journal Article |
| Sprache: | Englisch |
| Veröffentlicht: |
Basel
MDPI AG
21.09.2021
MDPI |
| Schlagworte: | |
| ISSN: | 2072-6694, 2072-6694 |
| Online-Zugang: | Volltext |
| Tags: |
Tag hinzufügen
Keine Tags, Fügen Sie den ersten Tag hinzu!
|
| Abstract | BRCA1/2-associated hereditary breast and ovarian cancer is the most common form of hereditary breast and ovarian cancer and occurs in all ethnicities and racial populations. Different BRCA1/BRCA2 pathogenic variants (PVs) have been reported with a wide variety among populations. In this study, we retrospectively analyzed prevalence and geographic distribution of pathogenic germline BRCA1/2 variants in families from Apulia in southern Italy and evaluated the genotype–phenotype correlations. Data were collected from Oncogenetic Services present in Apulian hospitals and a shared database was built containing Apulian native probands (n = 2026) that had undergone genetic testing from 2004 to 2019. PVs were detected in 499 of 2026 (24.6%) probands and 68.5% of them (342 of 499) were in the BRCA1 gene. We found 65 different PVs in BRCA1 and 46 in BRCA2. There were 10 most recurrent PVs and their geographical distribution appears to be significantly specific for each province. We have assumed that these PVs are related to the historical and geopolitical changes that occurred in Apulia over time and/or to a “founder effect”. Broader knowledge of BRCA1/2 prevalence and recurring PVs in specific geographic areas could help establish more flexible genetic testing strategies that may enhance our ability to detect high-risk subjects. |
|---|---|
| AbstractList | BRCA1/2-associated hereditary breast and ovarian cancer is the most common form of hereditary breast and ovarian cancer and occurs in all ethnicities and racial populations. Different BRCA1/BRCA2 pathogenic variants (PVs) have been reported with a wide variety among populations. In this study, we retrospectively analyzed prevalence and geographic distribution of pathogenic germline BRCA1/2 variants in families from Apulia in southern Italy and evaluated the genotype-phenotype correlations. Data were collected from Oncogenetic Services present in Apulian hospitals and a shared database was built containing Apulian native probands (n = 2026) that had undergone genetic testing from 2004 to 2019. PVs were detected in 499 of 2026 (24.6%) probands and 68.5% of them (342 of 499) were in the BRCA1 gene. We found 65 different PVs in BRCA1 and 46 in BRCA2. There were 10 most recurrent PVs and their geographical distribution appears to be significantly specific for each province. We have assumed that these PVs are related to the historical and geopolitical changes that occurred in Apulia over time and/or to a "founder effect". Broader knowledge of BRCA1/2 prevalence and recurring PVs in specific geographic areas could help establish more flexible genetic testing strategies that may enhance our ability to detect high-risk subjects.BRCA1/2-associated hereditary breast and ovarian cancer is the most common form of hereditary breast and ovarian cancer and occurs in all ethnicities and racial populations. Different BRCA1/BRCA2 pathogenic variants (PVs) have been reported with a wide variety among populations. In this study, we retrospectively analyzed prevalence and geographic distribution of pathogenic germline BRCA1/2 variants in families from Apulia in southern Italy and evaluated the genotype-phenotype correlations. Data were collected from Oncogenetic Services present in Apulian hospitals and a shared database was built containing Apulian native probands (n = 2026) that had undergone genetic testing from 2004 to 2019. PVs were detected in 499 of 2026 (24.6%) probands and 68.5% of them (342 of 499) were in the BRCA1 gene. We found 65 different PVs in BRCA1 and 46 in BRCA2. There were 10 most recurrent PVs and their geographical distribution appears to be significantly specific for each province. We have assumed that these PVs are related to the historical and geopolitical changes that occurred in Apulia over time and/or to a "founder effect". Broader knowledge of BRCA1/2 prevalence and recurring PVs in specific geographic areas could help establish more flexible genetic testing strategies that may enhance our ability to detect high-risk subjects. BRCA1/2-associated hereditary breast and ovarian cancer is the most common form of hereditary breast and ovarian cancer and occurs in all ethnicities and racial populations. Different BRCA1/BRCA2 pathogenic variants (PVs) have been reported with a wide variety among populations. In this study, we retrospectively analyzed prevalence and geographic distribution of pathogenic germline BRCA1/2 variants in families from Apulia in southern Italy and evaluated the genotype–phenotype correlations. Data were collected from Oncogenetic Services present in Apulian hospitals and a shared database was built containing Apulian native probands (n = 2026) that had undergone genetic testing from 2004 to 2019. PVs were detected in 499 of 2026 (24.6%) probands and 68.5% of them (342 of 499) were in the BRCA1 gene. We found 65 different PVs in BRCA1 and 46 in BRCA2. There were 10 most recurrent PVs and their geographical distribution appears to be significantly specific for each province. We have assumed that these PVs are related to the historical and geopolitical changes that occurred in Apulia over time and/or to a “founder effect”. Broader knowledge of BRCA1/2 prevalence and recurring PVs in specific geographic areas could help establish more flexible genetic testing strategies that may enhance our ability to detect high-risk subjects. Simple SummaryBRCA1 and BRCA2 are two major high-penetrance breast/ovarian cancer predisposition genes, whose mutations can lead to high risk and early onset of breast and ovarian cancer. Numerous studies are focused on spectrum and prevalence of BRCA1/2 mutations worldwide. This is the first study that exclusively focused on native Apulian probands. We found that ten recurrent BRCA1/2 pathogenic variants account for more than half of the patients with proven HBOC syndrome from Apulia. Besides BRCA1 c.5266dupC, which is present in significant numbers in every Apulian province, the other PVs occur at a high frequency in some areas and not others. In-depth knowledge of the mutation spectrum of the target population and of the relatively small number of recurrent mutations is crucial to develop a specific cost-effective strategy for mutation screening and a program for breast–ovarian cancer control and prevention through more liberal, yet rational, genetic testing and counseling.AbstractBRCA1/2-associated hereditary breast and ovarian cancer is the most common form of hereditary breast and ovarian cancer and occurs in all ethnicities and racial populations. Different BRCA1/BRCA2 pathogenic variants (PVs) have been reported with a wide variety among populations. In this study, we retrospectively analyzed prevalence and geographic distribution of pathogenic germline BRCA1/2 variants in families from Apulia in southern Italy and evaluated the genotype–phenotype correlations. Data were collected from Oncogenetic Services present in Apulian hospitals and a shared database was built containing Apulian native probands (n = 2026) that had undergone genetic testing from 2004 to 2019. PVs were detected in 499 of 2026 (24.6%) probands and 68.5% of them (342 of 499) were in the BRCA1 gene. We found 65 different PVs in BRCA1 and 46 in BRCA2. There were 10 most recurrent PVs and their geographical distribution appears to be significantly specific for each province. We have assumed that these PVs are related to the historical and geopolitical changes that occurred in Apulia over time and/or to a “founder effect”. Broader knowledge of BRCA1/2 prevalence and recurring PVs in specific geographic areas could help establish more flexible genetic testing strategies that may enhance our ability to detect high-risk subjects. |
| Author | Resta, Nicoletta Caputo, Mariapia Paradiso, Angelo Pantaleo, Antonino Natalicchio, Maria Iole Tommasi, Stefania Digennaro, Maria Tarantino, Paolo Bagnulo, Rosanna Costanzo, Silvia Patruno, Margherita Pilato, Brunella Simone, Cristiano De Matteis, Elisabetta De Summa, Simona |
| AuthorAffiliation | 5 Section of Clinic Pathology, OO.RR., 71122 Foggia, Italy; iole.nat@tiscali.it 4 Medical Genetics, National Institute of Gastroenterology “S. de Bellis” Research Hospital, Castellana Grotte, 70013 Bari, Italy 3 Medical Genetics Unit, Department of Biomedical Sciences and Human Oncology, “Aldo Moro” University of Bari, Policlinico Hospital Bari, 70124 Bari, Italy; nicoletta.resta@uniba.it (N.R.); rosanna.bagnulo@uniba.it (R.B.); antonino.pantaleo@uniba.it (A.P.); cristiano.simone@uniba.it (C.S.) 7 Medical Genetics Unit, “Vito Fazzi” Hospital, 73100 Lecce, Italy; bt.tarantino@gmail.com 2 Molecular and Pharmacogenetics Diagnostic Laboratory, IRCCS-IstitutoTumori “Giovanni Paolo II”, 70124 Bari, Italy; m.caputo@oncologico.bari.it (M.C.); b.pilato@oncologico.bari.it (B.P.); s.tommasi@oncologico.bari.it (S.T.) 1 Center for Hereditary Tumors Research, Istituto Tumori Bari, Giovani Paolo II, IRCCS, 70124 Bari, Italy; s.costanzo@oncologico.bari.it (S.C.); m.digennaro@oncologico.bari.it (M.D.); a.pa |
| AuthorAffiliation_xml | – name: 4 Medical Genetics, National Institute of Gastroenterology “S. de Bellis” Research Hospital, Castellana Grotte, 70013 Bari, Italy – name: 1 Center for Hereditary Tumors Research, Istituto Tumori Bari, Giovani Paolo II, IRCCS, 70124 Bari, Italy; s.costanzo@oncologico.bari.it (S.C.); m.digennaro@oncologico.bari.it (M.D.); a.paradiso@oncologico.bari.it (A.P.) – name: 5 Section of Clinic Pathology, OO.RR., 71122 Foggia, Italy; iole.nat@tiscali.it – name: 2 Molecular and Pharmacogenetics Diagnostic Laboratory, IRCCS-IstitutoTumori “Giovanni Paolo II”, 70124 Bari, Italy; m.caputo@oncologico.bari.it (M.C.); b.pilato@oncologico.bari.it (B.P.); s.tommasi@oncologico.bari.it (S.T.) – name: 6 Oncology Unit, “Vito Fazzi” Hospital, 73100 Lecce, Italy; dr.dematteis.elisabetta@gmail.com – name: 7 Medical Genetics Unit, “Vito Fazzi” Hospital, 73100 Lecce, Italy; bt.tarantino@gmail.com – name: 3 Medical Genetics Unit, Department of Biomedical Sciences and Human Oncology, “Aldo Moro” University of Bari, Policlinico Hospital Bari, 70124 Bari, Italy; nicoletta.resta@uniba.it (N.R.); rosanna.bagnulo@uniba.it (R.B.); antonino.pantaleo@uniba.it (A.P.); cristiano.simone@uniba.it (C.S.) |
| Author_xml | – sequence: 1 givenname: Margherita orcidid: 0000-0001-8231-596X surname: Patruno fullname: Patruno, Margherita – sequence: 2 givenname: Simona orcidid: 0000-0001-9607-3754 surname: De Summa fullname: De Summa, Simona – sequence: 3 givenname: Nicoletta orcidid: 0000-0001-8640-5532 surname: Resta fullname: Resta, Nicoletta – sequence: 4 givenname: Mariapia surname: Caputo fullname: Caputo, Mariapia – sequence: 5 givenname: Silvia orcidid: 0000-0003-1859-3281 surname: Costanzo fullname: Costanzo, Silvia – sequence: 6 givenname: Maria surname: Digennaro fullname: Digennaro, Maria – sequence: 7 givenname: Brunella surname: Pilato fullname: Pilato, Brunella – sequence: 8 givenname: Rosanna surname: Bagnulo fullname: Bagnulo, Rosanna – sequence: 9 givenname: Antonino orcidid: 0000-0001-9260-8109 surname: Pantaleo fullname: Pantaleo, Antonino – sequence: 10 givenname: Cristiano surname: Simone fullname: Simone, Cristiano – sequence: 11 givenname: Maria Iole surname: Natalicchio fullname: Natalicchio, Maria Iole – sequence: 12 givenname: Elisabetta surname: De Matteis fullname: De Matteis, Elisabetta – sequence: 13 givenname: Paolo surname: Tarantino fullname: Tarantino, Paolo – sequence: 14 givenname: Stefania orcidid: 0000-0002-2157-2978 surname: Tommasi fullname: Tommasi, Stefania – sequence: 15 givenname: Angelo orcidid: 0000-0001-6495-2295 surname: Paradiso fullname: Paradiso, Angelo |
| BookMark | eNp1kk1v1DAQhi1URD_omaslLly2G8d2nHBAWpZSKlWiogtXy7EnWVeJHWynUn8Q_xPvtkiwEr7YM_PMO57RnKIj5x0g9IYUF5Q2xVIrpyFEQknNBGEv0ElZiHJRVQ07-ut9jM5jvC_yoZSISrxCx5RxUTaMnKBfdxPoFOYR-w5fQRgH6wDfqrT1PTir8Q8VrHIpYuvwx2_rFVmWmXOwd6Qt4NU0D5nAd37OZnD4OqnhEd_67FfJevc-874PatpmuU82pmDbeRfAyhl8-WAN5D5w5wPeqNBDArOvkDK-gZis61-jl50aIpw_32fo--fLzfrL4ubr1fV6dbPQtKnTomm54UVnyrrSNW8N5x2hinLdGCi0YHXBoTQgqq5uu4oYylVLVMu1EC3ReT5n6MOT7jS3IxgNLgU1yCnYUYVH6ZWV_0ac3creP8iaVUIUPAu8exYI_uecPy9HGzUMg3Lg5yhLLgRjNeN1Rt8eoPd-Di63t6MqWpeNaDLFnygdfIwBOqlt2o8117eDJIXc7YI82IWctzzI-9PE_zJ-AxIxu94 |
| CitedBy_id | crossref_primary_10_1016_j_critrevonc_2022_103626 crossref_primary_10_3390_ijms252312640 crossref_primary_10_3390_cimb46110775 crossref_primary_10_3390_cancers15061895 crossref_primary_10_3390_cancers17121906 |
| Cites_doi | 10.1200/JCO.2009.22.7991 10.1097/PAS.0b013e31825d9b8d 10.3390/cancers13030532 10.1002/humu.23842 10.3390/cancers12051158 10.1093/bioinformatics/btw325 10.1186/s12881-016-0274-6 10.3390/cancers12051286 10.3390/genes11080925 10.1111/1471-0528.15171 10.1002/humu.23406 10.1200/JCO.2007.13.1748 10.1200/JCO.2008.16.6231 10.1002/cncr.25971 10.1016/j.jmoldx.2014.01.005 10.1038/s41598-018-27315-2 10.1007/s100380050035 10.1056/NEJMra1503523 10.1200/JCO.2014.56.2728 10.1002/humu.20880 10.1186/bcr1377 10.1158/0008-5472.CAN-08-0599 10.1007/s13167-010-0037-y 10.1038/ejhg.2010.203 10.20944/preprints201809.0602.v1 10.1186/1471-2407-9-245 |
| ContentType | Journal Article |
| Copyright | 2021 by the authors. Licensee MDPI, Basel, Switzerland. This article is an open access article distributed under the terms and conditions of the Creative Commons Attribution (CC BY) license (https://creativecommons.org/licenses/by/4.0/). Notwithstanding the ProQuest Terms and Conditions, you may use this content in accordance with the terms of the License. 2021 by the authors. 2021 |
| Copyright_xml | – notice: 2021 by the authors. Licensee MDPI, Basel, Switzerland. This article is an open access article distributed under the terms and conditions of the Creative Commons Attribution (CC BY) license (https://creativecommons.org/licenses/by/4.0/). Notwithstanding the ProQuest Terms and Conditions, you may use this content in accordance with the terms of the License. – notice: 2021 by the authors. 2021 |
| DBID | AAYXX CITATION 3V. 7T5 7TO 7XB 8FE 8FH 8FK 8G5 ABUWG AFKRA AZQEC BBNVY BENPR BHPHI CCPQU DWQXO GNUQQ GUQSH H94 HCIFZ LK8 M2O M7P MBDVC PHGZM PHGZT PIMPY PKEHL PQEST PQGLB PQQKQ PQUKI PRINS Q9U 7X8 5PM |
| DOI | 10.3390/cancers13184714 |
| DatabaseName | CrossRef ProQuest Central (Corporate) Immunology Abstracts Oncogenes and Growth Factors Abstracts ProQuest Central (purchase pre-March 2016) ProQuest SciTech Collection ProQuest Natural Science Collection ProQuest Central (Alumni) (purchase pre-March 2016) Research Library (Alumni Edition) ProQuest Central (Alumni) ProQuest Central UK/Ireland ProQuest Central Essentials Biological Science Collection ProQuest Central Natural Science Collection ProQuest One ProQuest Central ProQuest Central Student Research Library Prep (ProQuest) AIDS and Cancer Research Abstracts SciTech Premium Collection Biological Sciences Proquest Research Library Biological Science Database Research Library (Corporate) ProQuest Central Premium ProQuest One Academic Publicly Available Content Database ProQuest One Academic Middle East (New) ProQuest One Academic Eastern Edition (DO NOT USE) One Applied & Life Sciences ProQuest One Academic (retired) ProQuest One Academic UKI Edition ProQuest Central China ProQuest Central Basic MEDLINE - Academic PubMed Central (Full Participant titles) |
| DatabaseTitle | CrossRef Publicly Available Content Database Research Library Prep ProQuest Central Student Oncogenes and Growth Factors Abstracts ProQuest One Academic Middle East (New) ProQuest Central Essentials ProQuest Central (Alumni Edition) SciTech Premium Collection ProQuest One Community College Research Library (Alumni Edition) ProQuest Natural Science Collection ProQuest Central China ProQuest Central ProQuest One Applied & Life Sciences Natural Science Collection ProQuest Central Korea Biological Science Collection AIDS and Cancer Research Abstracts ProQuest Research Library ProQuest Central (New) ProQuest Biological Science Collection ProQuest Central Basic ProQuest One Academic Eastern Edition Biological Science Database ProQuest SciTech Collection ProQuest One Academic UKI Edition Immunology Abstracts ProQuest One Academic ProQuest One Academic (New) ProQuest Central (Alumni) MEDLINE - Academic |
| DatabaseTitleList | MEDLINE - Academic CrossRef Publicly Available Content Database |
| Database_xml | – sequence: 1 dbid: PIMPY name: Publicly Available Content Database url: http://search.proquest.com/publiccontent sourceTypes: Aggregation Database |
| DeliveryMethod | fulltext_linktorsrc |
| Discipline | Medicine |
| EISSN | 2072-6694 |
| ExternalDocumentID | PMC8467705 10_3390_cancers13184714 |
| GeographicLocations | Italy Apulia Italy |
| GeographicLocations_xml | – name: Italy – name: Apulia Italy |
| GroupedDBID | --- 53G 5VS 8FE 8FH 8G5 AADQD AAFWJ AAYXX ABDBF ABUWG ACUHS ADBBV AFFHD AFKRA AFZYC ALMA_UNASSIGNED_HOLDINGS AOIJS AZQEC BAWUL BBNVY BCNDV BENPR BHPHI BPHCQ CCPQU CITATION DIK DWQXO E3Z EBD ESX GNUQQ GUQSH GX1 HCIFZ HYE IAO IHR ITC KQ8 LK8 M2O M48 M7P MODMG M~E OK1 P6G PGMZT PHGZM PHGZT PIMPY PQGLB PQQKQ PROAC RPM TUS 3V. 7T5 7TO 7XB 8FK H94 MBDVC PKEHL PQEST PQUKI PRINS Q9U 7X8 PUEGO 5PM |
| ID | FETCH-LOGICAL-c398t-9b5d50fd286c85bd55f13a35c9de0c74805e2de76f8bf61d35ab1ab5c77b1c003 |
| IEDL.DBID | M7P |
| ISICitedReferencesCount | 5 |
| ISICitedReferencesURI | http://www.webofscience.com/api/gateway?GWVersion=2&SrcApp=Summon&SrcAuth=ProQuest&DestLinkType=CitingArticles&DestApp=WOS_CPL&KeyUT=000699436900001&url=https%3A%2F%2Fcvtisr.summon.serialssolutions.com%2F%23%21%2Fsearch%3Fho%3Df%26include.ft.matches%3Dt%26l%3Dnull%26q%3D |
| ISSN | 2072-6694 |
| IngestDate | Tue Nov 04 01:48:57 EST 2025 Fri Sep 05 06:56:32 EDT 2025 Fri Jul 25 11:56:21 EDT 2025 Sat Nov 29 07:13:06 EST 2025 Tue Nov 18 21:34:48 EST 2025 |
| IsDoiOpenAccess | true |
| IsOpenAccess | true |
| IsPeerReviewed | true |
| IsScholarly | true |
| Issue | 18 |
| Language | English |
| License | Licensee MDPI, Basel, Switzerland. This article is an open access article distributed under the terms and conditions of the Creative Commons Attribution (CC BY) license (https://creativecommons.org/licenses/by/4.0/). |
| LinkModel | DirectLink |
| MergedId | FETCHMERGED-LOGICAL-c398t-9b5d50fd286c85bd55f13a35c9de0c74805e2de76f8bf61d35ab1ab5c77b1c003 |
| Notes | ObjectType-Article-1 SourceType-Scholarly Journals-1 ObjectType-Feature-2 content type line 14 content type line 23 |
| ORCID | 0000-0002-2157-2978 0000-0001-9607-3754 0000-0001-8231-596X 0000-0001-9260-8109 0000-0003-1859-3281 0000-0001-8640-5532 0000-0001-6495-2295 |
| OpenAccessLink | https://www.proquest.com/docview/2576382979?pq-origsite=%requestingapplication% |
| PMID | 34572941 |
| PQID | 2576382979 |
| PQPubID | 2032421 |
| ParticipantIDs | pubmedcentral_primary_oai_pubmedcentral_nih_gov_8467705 proquest_miscellaneous_2577448458 proquest_journals_2576382979 crossref_citationtrail_10_3390_cancers13184714 crossref_primary_10_3390_cancers13184714 |
| PublicationCentury | 2000 |
| PublicationDate | 20210921 |
| PublicationDateYYYYMMDD | 2021-09-21 |
| PublicationDate_xml | – month: 9 year: 2021 text: 20210921 day: 21 |
| PublicationDecade | 2020 |
| PublicationPlace | Basel |
| PublicationPlace_xml | – name: Basel |
| PublicationTitle | Cancers |
| PublicationYear | 2021 |
| Publisher | MDPI AG MDPI |
| Publisher_xml | – name: MDPI AG – name: MDPI |
| References | Katagiri (ref_32) 1998; 43 Skidmore (ref_20) 2016; 32 ref_12 Atchley (ref_5) 2008; 26 ref_30 Laitman (ref_28) 2019; 40 ref_19 ref_17 (ref_14) 2010; 1 ref_16 Hartmann (ref_3) 2016; 374 Rust (ref_7) 2018; 125 Palma (ref_13) 2008; 68 Santos (ref_33) 2014; 16 Rakha (ref_4) 2008; 26 Kaufman (ref_11) 2015; 33 Whitman (ref_10) 2011; 117 Palmero (ref_31) 2018; 8 Marzuillo (ref_15) 2016; 18 ref_25 Kurian (ref_9) 2010; 28 ref_24 Plon (ref_18) 2008; 29 ref_23 ref_22 ref_21 ref_2 Fujiwara (ref_6) 2012; 36 ref_26 Rebbeck (ref_27) 2018; 39 ref_8 Hamel (ref_29) 2011; 19 Mann (ref_1) 2006; 8 |
| References_xml | – volume: 28 start-page: 222 year: 2010 ident: ref_9 article-title: Survival analysis of cancer risk reduction strategies for BRCA1/2 mutation carriers publication-title: J. Clin. Oncol. doi: 10.1200/JCO.2009.22.7991 – ident: ref_30 – volume: 36 start-page: 1170 year: 2012 ident: ref_6 article-title: Prediction of BRCA1 germline mutation status in women with ovarian cancer using morphology-based criteria: Identification of a BRCA1 ovarian cancer phenotype publication-title: Am. J. Surg. Pathol. doi: 10.1097/PAS.0b013e31825d9b8d – ident: ref_24 doi: 10.3390/cancers13030532 – volume: 40 start-page: e1 year: 2019 ident: ref_28 article-title: The spectrum of BRCA1 and BRCA2 pathogenic sequence variants in Middle Eastern, North African, and South European countries publication-title: Hum. Mutat. doi: 10.1002/humu.23842 – ident: ref_21 doi: 10.3390/cancers12051158 – volume: 32 start-page: 3012 year: 2016 ident: ref_20 article-title: GenVisR: Genomic Visualizations in R publication-title: Bioinformatics doi: 10.1093/bioinformatics/btw325 – ident: ref_23 doi: 10.1186/s12881-016-0274-6 – ident: ref_25 doi: 10.3390/cancers12051286 – ident: ref_22 doi: 10.3390/genes11080925 – volume: 125 start-page: 1451 year: 2018 ident: ref_7 article-title: Routine germline BRCA1 and BRCA2 testing in patients with ovarian carcinoma: Analysis of the Scottish real-life experience publication-title: BJOG doi: 10.1111/1471-0528.15171 – volume: 39 start-page: 593 year: 2018 ident: ref_27 article-title: Mutational spectrum in a worldwide study of 29,700 families with BRCA1 or BRCA2 mutations publication-title: Hum. Mutat. doi: 10.1002/humu.23406 – volume: 26 start-page: 2568 year: 2008 ident: ref_4 article-title: Basal-like breast cancer: A critical review publication-title: J. Clin. Oncol. doi: 10.1200/JCO.2007.13.1748 – volume: 26 start-page: 4282 year: 2008 ident: ref_5 article-title: Clinical and pathologic characteristics of patients with BRCA-positive and BRCA-negative breast cancer publication-title: J. Clin. Oncol. doi: 10.1200/JCO.2008.16.6231 – volume: 117 start-page: 3900 year: 2011 ident: ref_10 article-title: Effectiveness of alternating mammography and magnetic resonance imaging for screening women with deleterious BRCA mutations at high risk of breast cancer publication-title: Cancer doi: 10.1002/cncr.25971 – volume: 16 start-page: 324 year: 2014 ident: ref_33 article-title: Pathogenicity evaluation of BRCA1 and BRCA2 unclassified variants identified in Portuguese breast/ovarian cancer families publication-title: J. Mol. Diagn. JMD doi: 10.1016/j.jmoldx.2014.01.005 – volume: 8 start-page: 9188 year: 2018 ident: ref_31 article-title: The germline mutational landscape of BRCA1 and BRCA2 in Brazil publication-title: Sci. Rep. doi: 10.1038/s41598-018-27315-2 – ident: ref_8 – volume: 43 start-page: 42 year: 1998 ident: ref_32 article-title: High proportion of missense mutations of the BRCA1 and BRCA2 genes in Japanese breast cancer families publication-title: J. Hum. Genet. doi: 10.1007/s100380050035 – volume: 374 start-page: 454 year: 2016 ident: ref_3 article-title: The Role of Risk-Reducing Surgery in Hereditary Breast and Ovarian Cancer publication-title: N. Engl. J. Med. doi: 10.1056/NEJMra1503523 – volume: 33 start-page: 244 year: 2015 ident: ref_11 article-title: Olaparib monotherapy in patients with advanced cancer and a germline BRCA1/2 mutation publication-title: J. Clin. Oncol. Off. J. Am. Soc. Clin. Oncol. doi: 10.1200/JCO.2014.56.2728 – ident: ref_2 – volume: 29 start-page: 1282 year: 2008 ident: ref_18 article-title: Sequence variant classification and reporting: Recommendations for improving the interpretation of cancer susceptibility genetic test results publication-title: Hum. Mutat. doi: 10.1002/humu.20880 – ident: ref_12 – volume: 18 start-page: 1171 year: 2016 ident: ref_15 article-title: Which BRCA genetic testing programs are ready for implementation in health care? A systematic review of economic evaluations publication-title: Genet. Med. Off. J. Am. Coll. Med. Genet. – volume: 8 start-page: R12 year: 2006 ident: ref_1 article-title: Analysis of cancer risk and BRCA1 and BRCA2 mutation prevalence in the kConFab familial breast cancer resource publication-title: Breast Cancer Res. doi: 10.1186/bcr1377 – volume: 68 start-page: 7006 year: 2008 ident: ref_13 article-title: The relative contribution of point mutations and genomic rearrangements in BRCA1 and BRCA2 in high-risk breast cancer families publication-title: Cancer Res. doi: 10.1158/0008-5472.CAN-08-0599 – volume: 1 start-page: 397 year: 2010 ident: ref_14 article-title: Founder BRCA1/2 mutations in the Europe: Implications for hereditary breast-ovarian cancer prevention and control publication-title: EPMA J. doi: 10.1007/s13167-010-0037-y – volume: 19 start-page: 300 year: 2011 ident: ref_29 article-title: On the origin and diffusion of BRCA1 c.5266dupC (5382insC) in European populations publication-title: Eur. J. Hum. Genet. EJHG doi: 10.1038/ejhg.2010.203 – ident: ref_17 – ident: ref_19 – ident: ref_16 doi: 10.20944/preprints201809.0602.v1 – ident: ref_26 doi: 10.1186/1471-2407-9-245 |
| SSID | ssj0000331767 |
| Score | 2.2784054 |
| Snippet | BRCA1/2-associated hereditary breast and ovarian cancer is the most common form of hereditary breast and ovarian cancer and occurs in all ethnicities and... Simple SummaryBRCA1 and BRCA2 are two major high-penetrance breast/ovarian cancer predisposition genes, whose mutations can lead to high risk and early onset... |
| SourceID | pubmedcentral proquest crossref |
| SourceType | Open Access Repository Aggregation Database Enrichment Source Index Database |
| StartPage | 4714 |
| SubjectTerms | Age BRCA1 protein BRCA2 protein Breast cancer Data collection Founder effect Genes Genetic screening Genotypes Geographical distribution Males Mutation Ovarian cancer Patients Phenotypes Population Population studies Tumors |
| Title | Spectrum of Germline Pathogenic Variants in BRCA1/2 Genes in the Apulian Southern Italy Population: Geographic Distribution and Evidence for Targeted Genetic Testing |
| URI | https://www.proquest.com/docview/2576382979 https://www.proquest.com/docview/2577448458 https://pubmed.ncbi.nlm.nih.gov/PMC8467705 |
| Volume | 13 |
| WOSCitedRecordID | wos000699436900001&url=https%3A%2F%2Fcvtisr.summon.serialssolutions.com%2F%23%21%2Fsearch%3Fho%3Df%26include.ft.matches%3Dt%26l%3Dnull%26q%3D |
| hasFullText | 1 |
| inHoldings | 1 |
| isFullTextHit | |
| isPrint | |
| journalDatabaseRights | – providerCode: PRVHPJ databaseName: ROAD: Directory of Open Access Scholarly Resources customDbUrl: eissn: 2072-6694 dateEnd: 99991231 omitProxy: false ssIdentifier: ssj0000331767 issn: 2072-6694 databaseCode: M~E dateStart: 20090101 isFulltext: true titleUrlDefault: https://road.issn.org providerName: ISSN International Centre – providerCode: PRVPQU databaseName: Biological Science Database customDbUrl: eissn: 2072-6694 dateEnd: 99991231 omitProxy: false ssIdentifier: ssj0000331767 issn: 2072-6694 databaseCode: M7P dateStart: 20090101 isFulltext: true titleUrlDefault: http://search.proquest.com/biologicalscijournals providerName: ProQuest – providerCode: PRVPQU databaseName: ProQuest Central customDbUrl: eissn: 2072-6694 dateEnd: 99991231 omitProxy: false ssIdentifier: ssj0000331767 issn: 2072-6694 databaseCode: BENPR dateStart: 20090101 isFulltext: true titleUrlDefault: https://www.proquest.com/central providerName: ProQuest – providerCode: PRVPQU databaseName: Publicly Available Content Database customDbUrl: eissn: 2072-6694 dateEnd: 99991231 omitProxy: false ssIdentifier: ssj0000331767 issn: 2072-6694 databaseCode: PIMPY dateStart: 20090101 isFulltext: true titleUrlDefault: http://search.proquest.com/publiccontent providerName: ProQuest – providerCode: PRVPQU databaseName: Research Library customDbUrl: eissn: 2072-6694 dateEnd: 99991231 omitProxy: false ssIdentifier: ssj0000331767 issn: 2072-6694 databaseCode: M2O dateStart: 20090101 isFulltext: true titleUrlDefault: https://search.proquest.com/pqrl providerName: ProQuest |
| link | http://cvtisr.summon.serialssolutions.com/2.0.0/link/0/eLvHCXMwpV1Lj9MwELbYXYS48EYUlmqQOHAJzcuxzQV1l11YiZZoVVA5RYntsJUgKX0g8YP4n8y4bnaLBBdueThxlBnb39jj72PseWg10XyZQBleBWlkVCDrGDtDrlUpUyVD6yz9XozHcjpVuZ9wW_q0ym2f6Dpq02qaIx8QME5oH6h6Pf8ekGoUra56CY09dkAsCYlL3cu7OZYwwdExExtGnwSj-4GmX7lYRujJqdu5c3UwukSYu_mRVwac09v_-6l32C0PNWG48Y277Jpt7rEbI7-Yfp_9Iu351WL9Ddoa3mIPTYgTcoSELXrVTMMnjKMpTQZmDRydHw-jQQxEU-0uIHCE4XxNsyTgdPjsooEzhPI_Ie9EwV6BF1m_wNe9IY5eL68FZWNgq2gKCJxh4lLSrXE14BfDhPg_mi8P2MfTk8nxu8CrNgQ6UXIVqIobHtYmlpmWvDKc11FSJmh7Y0MtUhlyGxsrslpWdRaZhJdVVFZcC1FFGm32kO03bWMfMeClQoCWWkRhGMGXSqV0gPGAlTrDV_TYy635Cu0pzUlZ42uBoQ3Zu_jD3j32ontgvmHz-HvRw61xC9-sl8WlZXvsWXcbGyStspSNbdeujMCYN-Wyx8SOH3VVEqX37p1mduGovQkNipA__nflT9jNmFJraHEsOmT76Cr2Kbuuf6xmy0Wf7Ymp7LODo5Nxfo5no_hD37ULvJafjfLPvwHHghsi |
| linkProvider | ProQuest |
| linkToHtml | http://cvtisr.summon.serialssolutions.com/2.0.0/link/0/eLvHCXMw1V3fb9MwELbGQMALvxGFAYcEEi-h-eXYRkKobIxV66oKOrS3kNgOqwRpaVrQ_iBe-Ru5c5NsRYK3PfBWNYkdxd-dv7PP9zH21LeaynwZTxmee3FglCeLEJ0h1yqTsZK-dSM9EMOhPDpSow32qzkLQ2mVjU90jtpMNa2Rd4kYR3QOVL2effNINYp2VxsJjRUs9u3JDwzZqlf9HRzfZ2G4-3a8vefVqgKejpRceCrnhvuFCWWiJc8N50UQZRG-m7G-FrH0uQ2NFUkh8yIJTMSzPMhyroXIA41GgO1eYBeRRoTSpQqO2jUdP8LZOBGrCkJRpPyupqGbVwFaTuxOCp2d_E4Z7Xo-5pkJbvf6__ZpbrBrNZWG3gr7N9mGLW-xywd1ssBt9vMDnSKdL7_CtIB3OAMRo4YRUt4pWs1Ew8cMra9cVDAp4c377V7QDYHKcLs_kBhDb7akVSBwOoN2XkIfQ5UTGLWiZy-hFpE_xuZ2qAZxLR8GWWmgUWwFDAxg7FLurXE94BvDmOqblJ_vsMNz-Uh32WY5Le09BjxTSEBjiyxTxGGmVEw_MN6xUifYRIe9aOCS6rpkOymHfEkxdCN8pX_gq8Oetw_MVtVK_n7rVgOmtHZbVXqKpA570l5Gh0O7SFlpp0t3j8CYPuayw8QabtsuqWT5-pVycuxKlxPbFT6__-_OH7Mre-ODQTroD_cfsKshpRHRRmCwxTYRNvYhu6S_LybV_JGzP2CfzhvVvwHrSXRV |
| linkToPdf | http://cvtisr.summon.serialssolutions.com/2.0.0/link/0/eLvHCXMw1V1db9MwFLXGQBMvfCMKA4wEEi-h-XJsIyFUVgrVRhVBmfYWEtthlcApTQvaD-JP8Ou4102yFQne9sBb1SR2FJ97fa99fQ4hj32jkOZLe1KzwosDLT1RhuAMmZK5iKXwjRvpAz6ZiKMjmW6RX-1ZGCyrbH2ic9S6UrhG3sfAOMJzoLJfNmUR6XD0cv7NQwUp3Glt5TTWENk3Jz8gfatfjIcw1k_CcPR6uvfWaxQGPBVJsfRkwTTzSx2KRAlWaMbKIMojeE9tfMVj4TMTasOTUhRlEuiI5UWQF0xxXgQKDALavUAuciQtd2WDabe-40cwMyd8zSYURdLvKxzGRR2AFcXu1NDZifA0ut2szTwz2Y2u_s-f6Rq50oTYdLC2ietky9gbZOddU0Rwk_z8gKdLF6uvtCrpG5iZMNKmKYTCFVjTTNHDHKzSLms6s_TV-71B0A8p0nO7PyBgpoP5CleHqNMfNAtLx5DCnNC0E0N7Thtx-WNobojcxI2sGM2tpq2SK4WEgU5dKb7Rrgd4YzpF3hP7-Rb5eC4f6TbZtpU1dwhluYTANDYQffI4zKWM8QfkQUaoBJrokWctdDLVULmjosiXDFI6xFr2B9Z65Gn3wHzNYvL3W3dbYGWNO6uzU1T1yKPuMjgi3F3KralW7h4OuX7MRI_wDQx3XSKV-eYVOzt2lOYYBXOf3f135w_JDoA5OxhP9u-RyyFWF-H-YLBLtgE15j65pL4vZ_XigTNFSj6dN6h_A6yPfRI |
| openUrl | ctx_ver=Z39.88-2004&ctx_enc=info%3Aofi%2Fenc%3AUTF-8&rfr_id=info%3Asid%2Fsummon.serialssolutions.com&rft_val_fmt=info%3Aofi%2Ffmt%3Akev%3Amtx%3Ajournal&rft.genre=article&rft.atitle=Spectrum+of+Germline+Pathogenic+Variants+in+BRCA1%2F2+Genes+in+the+Apulian+Southern+Italy+Population%3A+Geographic+Distribution+and+Evidence+for+Targeted+Genetic+Testing&rft.jtitle=Cancers&rft.au=Patruno%2C+Margherita&rft.au=De+Summa%2C+Simona&rft.au=Resta%2C+Nicoletta&rft.au=Caputo%2C+Mariapia&rft.date=2021-09-21&rft.pub=MDPI&rft.eissn=2072-6694&rft.volume=13&rft.issue=18&rft_id=info:doi/10.3390%2Fcancers13184714&rft_id=info%3Apmid%2F34572941&rft.externalDocID=PMC8467705 |
| thumbnail_l | http://covers-cdn.summon.serialssolutions.com/index.aspx?isbn=/lc.gif&issn=2072-6694&client=summon |
| thumbnail_m | http://covers-cdn.summon.serialssolutions.com/index.aspx?isbn=/mc.gif&issn=2072-6694&client=summon |
| thumbnail_s | http://covers-cdn.summon.serialssolutions.com/index.aspx?isbn=/sc.gif&issn=2072-6694&client=summon |