Analysis of PALB2 Gene in BRCA1/BRCA2 Negative Spanish Hereditary Breast/Ovarian Cancer Families with Pancreatic Cancer Cases
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{"title"=>"Analysis of PALB2 Gene in BRCA1/BRCA2 Negative Spanish Hereditary Breast/Ovarian Cancer Families with Pancreatic Cancer Cases", "type"=>"journal", "authors"=>[{"first_name"=>"Ana", "last_name"=>"Blanco", "scopus_author_id"=>"35739722200"}, {"first_name"=>"Miguel", "last_name"=>"de la Hoya", "scopus_author_id"=>"6602186038"}, {"first_name"=>"Ana", "last_name"=>"Osorio", "scopus_author_id"=>"7006178585"}, {"first_name"=>"Orland", "last_name"=>"Diez", "scopus_author_id"=>"7003386591"}, {"first_name"=>"María Dolores", "last_name"=>"Miramar", "scopus_author_id"=>"6507834618"}, {"first_name"=>"Mar", "last_name"=>"Infante", "scopus_author_id"=>"7005589747"}, {"first_name"=>"Cristina", "last_name"=>"Martinez-Bouzas", "scopus_author_id"=>"16239236900"}, {"first_name"=>"Asunción", "last_name"=>"Torres", "scopus_author_id"=>"23098858900"}, {"first_name"=>"Adriana", "last_name"=>"Lasa", "scopus_author_id"=>"57195913321"}, {"first_name"=>"Gemma", "last_name"=>"Llort", "scopus_author_id"=>"14054210500"}, {"first_name"=>"Joan", "last_name"=>"Brunet", "scopus_author_id"=>"7202472537"}, {"first_name"=>"Begoña", "last_name"=>"Graña", "scopus_author_id"=>"24830493900"}, {"first_name"=>"Pedro", "last_name"=>"Perez Segura", "scopus_author_id"=>"6603077606"}, {"first_name"=>"María José", "last_name"=>"Garcia", "scopus_author_id"=>"7404278368"}, {"first_name"=>"Sara", "last_name"=>"Gutiérrez-Enríquez", "scopus_author_id"=>"14053964400"}, {"first_name"=>"Ángel", "last_name"=>"Carracedo", "scopus_author_id"=>"7006062179"}, {"first_name"=>"María Isabel", "last_name"=>"Tejada", "scopus_author_id"=>"21744145000"}, {"first_name"=>"Eladio A.", "last_name"=>"Velasco", "scopus_author_id"=>"7004430861"}, {"first_name"=>"María Teresa", "last_name"=>"Calvo", "scopus_author_id"=>"8558016200"}, {"first_name"=>"Judith", "last_name"=>"Balmaña", "scopus_author_id"=>"6603753671"}, {"first_name"=>"Javier", "last_name"=>"Benitez", "scopus_author_id"=>"7203010415"}, {"first_name"=>"Trinidad", "last_name"=>"Caldés", "scopus_author_id"=>"7004899792"}, {"first_name"=>"Ana", "last_name"=>"Vega", "scopus_author_id"=>"55883554800"}], "year"=>2013, "source"=>"PLoS ONE", "identifiers"=>{"issn"=>"19326203", "scopus"=>"2-s2.0-84880729402", "pui"=>"369424153", "doi"=>"10.1371/journal.pone.0067538", "isbn"=>"10.1371/journal.pone.0067538", "sgr"=>"84880729402", "pmid"=>"23935836"}, "id"=>"5caf1b41-35df-36b0-928b-29e69c5dbc25", "abstract"=>"BACKGROUND: The PALB2 gene, also known as FANCN, forms a bond and co-localizes with BRCA2 in DNA repair. Germline mutations in PALB2 have been identified in approximately 1% of familial breast cancer and 3-4% of familial pancreatic cancer. The goal of this study was to determine the prevalence of PALB2 mutations in a population of BRCA1/BRCA2 negative breast cancer patients selected from either a personal or family history of pancreatic cancer.\\n\\nMETHODS: 132 non-BRCA1/BRCA2 breast/ovarian cancer families with at least one pancreatic cancer case were included in the study. PALB2 mutational analysis was performed by direct sequencing of all coding exons and intron/exon boundaries, as well as multiplex ligation-dependent probe amplification.\\n\\nRESULTS: Two PALB2 truncating mutations, the c.1653T>A (p.Tyr551Stop) previously reported, and c.3362del (p.Gly1121ValfsX3) which is a novel frameshift mutation, were identified. Moreover, several PALB2 variants were detected; some of them were predicted as pathological by bioinformatic analysis. Considering truncating mutations, the prevalence rate of our population of BRCA1/2-negative breast cancer patients with pancreatic cancer is 1.5%.\\n\\nCONCLUSIONS: The prevalence rate of PALB2 mutations in non-BRCA1/BRCA2 breast/ovarian cancer families, selected from either a personal or family pancreatic cancer history, is similar to that previously described for unselected breast/ovarian cancer families. Future research directed towards identifying other gene(s) involved in the development of breast/pancreatic cancer families is required.", "link"=>"http://www.mendeley.com/research/analysis-palb2-gene-brca1brca2-negative-spanish-hereditary-breastovarian-cancer-families-pancreatic", "reader_count"=>51, "reader_count_by_academic_status"=>{"Unspecified"=>3, "Professor > Associate Professor"=>3, "Librarian"=>3, "Researcher"=>11, "Student > Doctoral Student"=>3, "Student > Ph. D. Student"=>10, "Student > Postgraduate"=>7, "Other"=>4, "Student > Master"=>4, "Student > Bachelor"=>2, "Lecturer"=>1}, "reader_count_by_user_role"=>{"Unspecified"=>3, "Professor > Associate Professor"=>3, "Librarian"=>3, "Researcher"=>11, "Student > Doctoral Student"=>3, "Student > Ph. D. Student"=>10, "Student > Postgraduate"=>7, "Other"=>4, "Student > Master"=>4, "Student > Bachelor"=>2, "Lecturer"=>1}, "reader_count_by_subject_area"=>{"Unspecified"=>4, "Biochemistry, Genetics and Molecular Biology"=>7, "Agricultural and Biological Sciences"=>18, "Medicine and Dentistry"=>17, "Arts and Humanities"=>1, "Chemistry"=>1, "Psychology"=>1, "Computer Science"=>2}, "reader_count_by_subdiscipline"=>{"Medicine and Dentistry"=>{"Medicine and Dentistry"=>17}, "Chemistry"=>{"Chemistry"=>1}, "Psychology"=>{"Psychology"=>1}, "Agricultural and Biological Sciences"=>{"Agricultural and Biological Sciences"=>18}, "Computer Science"=>{"Computer Science"=>2}, "Biochemistry, Genetics and Molecular Biology"=>{"Biochemistry, Genetics and Molecular Biology"=>7}, "Unspecified"=>{"Unspecified"=>4}, "Arts and Humanities"=>{"Arts and Humanities"=>1}}, "reader_count_by_country"=>{"Nigeria"=>1, "Spain"=>3}, "group_count"=>2}

Scopus | Further Information

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Figshare

  • {"files"=>["https://ndownloader.figshare.com/files/1127194"], "description"=>"<p>a) c.1653T>A (p.Tyr551Stop); b) c.3362del (p.Glu1121ValfsX3). Cancer diagnoses are indicated in affected patients; in brackets the age at diagnosis or exitus. The <i>arrow</i> indicates the index case analyzed. <i>BC</i> breast cancer, <i>PC</i> Pancreatic Cancer, <i>CCR</i> Colorectal cancer, <i>CNS</i> central nervous system cancer.</p>", "links"=>[], "tags"=>["genetics", "population genetics", "mutation", "Cancer genetics", "Genetic mutation", "Population biology", "Clinical genetics", "genetic testing", "epidemiology", "Genetic epidemiology", "Obstetrics and gynecology", "breast cancer", "oncology", "Cancer risk factors", "Genetic causes of cancer", "Predisposing conditions and syndromes", "Cancers and neoplasms", "Gastrointestinal tumors", "Pancreatic cancer", "Gynecological tumors", "Ovarian cancer", "Breast tumors", "carrying"], "article_id"=>752116, "categories"=>["Medicine", "Biological Sciences"], "users"=>["Ana Blanco", "Miguel de la Hoya", "Ana Osorio", "Orland Diez", "María Dolores Miramar", "Mar Infante", "Cristina Martinez-Bouzas", "Asunción Torres", "Adriana Lasa", "Gemma Llort", "Joan Brunet", "Begoña Graña", "Pedro Perez Segura", "María José Garcia", "Sara Gutiérrez-Enríquez", "Ángel Carracedo", "María-Isabel Tejada", "Eladio A. Velasco", "María-Teresa Calvo", "Judith Balmaña", "Javier Benitez", "Trinidad Caldés", "Ana Vega"], "doi"=>"https://dx.doi.org/10.1371/journal.pone.0067538.g001", "stats"=>{"downloads"=>1, "page_views"=>6, "likes"=>0}, "figshare_url"=>"https://figshare.com/articles/_Pedigrees_of_the_families_carrying_the_mutations_/752116", "title"=>"Pedigrees of the families carrying the mutations.", "pos_in_sequence"=>0, "defined_type"=>1, "published_date"=>"2013-07-23 02:52:05"}
  • {"files"=>["https://ndownloader.figshare.com/files/1127195"], "description"=>"<p>BC: Breast cancer; PC: Pancreatic cancer; OC: Ovarian cancer; BiOC: Bilateral Ovarian cancer; PrC: Prostate cancer; MBC: Male Breast cancer; BiBC: Bilateral Breast Cancer; CCR: Colorectal cancer; FDR: First degree relative; SDR: Second degree relative.</p>", "links"=>[], "tags"=>["genetics", "population genetics", "mutation", "Cancer genetics", "Genetic mutation", "Population biology", "Clinical genetics", "genetic testing", "epidemiology", "Genetic epidemiology", "Obstetrics and gynecology", "breast cancer", "oncology", "Cancer risk factors", "Genetic causes of cancer", "Predisposing conditions and syndromes", "Cancers and neoplasms", "Gastrointestinal tumors", "Pancreatic cancer", "Gynecological tumors", "Ovarian cancer", "Breast tumors", "mutation-negative", "spanish", "cancer", "pancreatic"], "article_id"=>752117, "categories"=>["Medicine", "Biological Sciences"], "users"=>["Ana Blanco", "Miguel de la Hoya", "Ana Osorio", "Orland Diez", "María Dolores Miramar", "Mar Infante", "Cristina Martinez-Bouzas", "Asunción Torres", "Adriana Lasa", "Gemma Llort", "Joan Brunet", "Begoña Graña", "Pedro Perez Segura", "María José Garcia", "Sara Gutiérrez-Enríquez", "Ángel Carracedo", "María-Isabel Tejada", "Eladio A. Velasco", "María-Teresa Calvo", "Judith Balmaña", "Javier Benitez", "Trinidad Caldés", "Ana Vega"], "doi"=>"https://dx.doi.org/10.1371/journal.pone.0067538.t001", "stats"=>{"downloads"=>0, "page_views"=>4, "likes"=>0}, "figshare_url"=>"https://figshare.com/articles/_BRCA1_BRCA2_mutation_negative_Spanish_high_risk_breast_ovarian_cancer_families_with_pancreatic_cancer_cases_/752117", "title"=>"<i>BRCA1/BRCA2</i> mutation-negative Spanish high risk breast/ovarian cancer families with pancreatic cancer cases.", "pos_in_sequence"=>0, "defined_type"=>3, "published_date"=>"2013-07-23 02:52:05"}
  • {"files"=>["https://ndownloader.figshare.com/files/1127196"], "description"=>"<p>The table reports 5′ or 3′ score modifications due to the detected variants in <i>PALB2</i> (for greater clarity, when the variants didn't change the score, the corresponding tool is not indicated). Proximal cryptic sites are indicated with the corresponding tool, when the variants led to <i>de novo</i> site it is also indicated. N/A = not applicable as the change is synonymous or intronic.</p>†<p>Location indicates exon/intron, SS stands for splice site and distance to the nearest splice site is indicated in base pairs.</p>&<p>cDNA analysis was performed. No additional products in the carrier sample compared to control samples has been identified (data not shown).</p>", "links"=>[], "tags"=>["genetics", "population genetics", "mutation", "Cancer genetics", "Genetic mutation", "Population biology", "Clinical genetics", "genetic testing", "epidemiology", "Genetic epidemiology", "Obstetrics and gynecology", "breast cancer", "oncology", "Cancer risk factors", "Genetic causes of cancer", "Predisposing conditions and syndromes", "Cancers and neoplasms", "Gastrointestinal tumors", "Pancreatic cancer", "Gynecological tumors", "Ovarian cancer", "Breast tumors", "bioinformatic"], "article_id"=>752118, "categories"=>["Medicine", "Biological Sciences"], "users"=>["Ana Blanco", "Miguel de la Hoya", "Ana Osorio", "Orland Diez", "María Dolores Miramar", "Mar Infante", "Cristina Martinez-Bouzas", "Asunción Torres", "Adriana Lasa", "Gemma Llort", "Joan Brunet", "Begoña Graña", "Pedro Perez Segura", "María José Garcia", "Sara Gutiérrez-Enríquez", "Ángel Carracedo", "María-Isabel Tejada", "Eladio A. Velasco", "María-Teresa Calvo", "Judith Balmaña", "Javier Benitez", "Trinidad Caldés", "Ana Vega"], "doi"=>"https://dx.doi.org/10.1371/journal.pone.0067538.t003", "stats"=>{"downloads"=>0, "page_views"=>5, "likes"=>0}, "figshare_url"=>"https://figshare.com/articles/_Results_of_bioinformatic_analysis_for_PALB2_variants_/752118", "title"=>"Results of bioinformatic analysis for <i>PALB2</i> variants.", "pos_in_sequence"=>0, "defined_type"=>3, "published_date"=>"2013-07-23 02:52:05"}
  • {"files"=>["https://ndownloader.figshare.com/files/1127197"], "description"=>"a<p>In bold variants not previously reported.</p>b<p>Allelic frequency is the percentage of n/N, where n is the number of minor alleles and N is the total number of alleles.</p>", "links"=>[], "tags"=>["genetics", "population genetics", "mutation", "Cancer genetics", "Genetic mutation", "Population biology", "Clinical genetics", "genetic testing", "epidemiology", "Genetic epidemiology", "Obstetrics and gynecology", "breast cancer", "oncology", "Cancer risk factors", "Genetic causes of cancer", "Predisposing conditions and syndromes", "Cancers and neoplasms", "Gastrointestinal tumors", "Pancreatic cancer", "Gynecological tumors", "Ovarian cancer", "Breast tumors", "variants", "132", "spanish", "cancer", "pancreatic"], "article_id"=>752119, "categories"=>["Medicine", "Biological Sciences"], "users"=>["Ana Blanco", "Miguel de la Hoya", "Ana Osorio", "Orland Diez", "María Dolores Miramar", "Mar Infante", "Cristina Martinez-Bouzas", "Asunción Torres", "Adriana Lasa", "Gemma Llort", "Joan Brunet", "Begoña Graña", "Pedro Perez Segura", "María José Garcia", "Sara Gutiérrez-Enríquez", "Ángel Carracedo", "María-Isabel Tejada", "Eladio A. Velasco", "María-Teresa Calvo", "Judith Balmaña", "Javier Benitez", "Trinidad Caldés", "Ana Vega"], "doi"=>"https://dx.doi.org/10.1371/journal.pone.0067538.t002", "stats"=>{"downloads"=>1, "page_views"=>4, "likes"=>0}, "figshare_url"=>"https://figshare.com/articles/_PALB2_sequence_variants_identified_in_132_Spanish_breast_ovarian_cancer_families_with_pancreatic_cancer_cases_/752119", "title"=>"<i>PALB2</i> sequence variants identified in 132 Spanish breast/ovarian cancer families with pancreatic cancer cases.", "pos_in_sequence"=>0, "defined_type"=>3, "published_date"=>"2013-07-23 02:52:05"}
  • {"files"=>["https://ndownloader.figshare.com/files/1127198"], "description"=>"<p>BC (breast cancer); PC (pancreatic cancer); FPC (familial pancreatic cancer); PrC (prostate cancer).</p>", "links"=>[], "tags"=>["genetics", "population genetics", "mutation", "Cancer genetics", "Genetic mutation", "Population biology", "Clinical genetics", "genetic testing", "epidemiology", "Genetic epidemiology", "Obstetrics and gynecology", "breast cancer", "oncology", "Cancer risk factors", "Genetic causes of cancer", "Predisposing conditions and syndromes", "Cancers and neoplasms", "Gastrointestinal tumors", "Pancreatic cancer", "Gynecological tumors", "Ovarian cancer", "Breast tumors", "mutations", "fpc", "bc", "affected", "pc"], "article_id"=>752120, "categories"=>["Medicine", "Biological Sciences"], "users"=>["Ana Blanco", "Miguel de la Hoya", "Ana Osorio", "Orland Diez", "María Dolores Miramar", "Mar Infante", "Cristina Martinez-Bouzas", "Asunción Torres", "Adriana Lasa", "Gemma Llort", "Joan Brunet", "Begoña Graña", "Pedro Perez Segura", "María José Garcia", "Sara Gutiérrez-Enríquez", "Ángel Carracedo", "María-Isabel Tejada", "Eladio A. Velasco", "María-Teresa Calvo", "Judith Balmaña", "Javier Benitez", "Trinidad Caldés", "Ana Vega"], "doi"=>"https://dx.doi.org/10.1371/journal.pone.0067538.t004", "stats"=>{"downloads"=>0, "page_views"=>5, "likes"=>0}, "figshare_url"=>"https://figshare.com/articles/_Overview_of_literature_on_role_of_PALB2_mutations_in_FPC_and_in_BC_families_affected_by_PC_BC_PC_families_/752120", "title"=>"Overview of literature on role of <i>PALB2</i> mutations in FPC and in BC families affected by PC (BC-PC families).", "pos_in_sequence"=>0, "defined_type"=>3, "published_date"=>"2013-07-23 02:52:05"}
  • {"files"=>["https://ndownloader.figshare.com/files/1127200", "https://ndownloader.figshare.com/files/1127201"], "description"=>"<div><p>Background</p><p>The <i>PALB2</i> gene, also known as <i>FANCN</i>, forms a bond and co-localizes with BRCA2 in DNA repair. Germline mutations in <i>PALB2</i> have been identified in approximately 1% of familial breast cancer and 3–4% of familial pancreatic cancer. The goal of this study was to determine the prevalence of <i>PALB2</i> mutations in a population of <i>BRCA1/BRCA2</i> negative breast cancer patients selected from either a personal or family history of pancreatic cancer.</p><p>Methods</p><p>132 non-<i>BRCA1/BRCA2</i> breast/ovarian cancer families with at least one pancreatic cancer case were included in the study. <i>PALB2</i> mutational analysis was performed by direct sequencing of all coding exons and intron/exon boundaries, as well as multiplex ligation-dependent probe amplification.</p><p>Results</p><p>Two <i>PALB2</i> truncating mutations, the c.1653T>A (p.Tyr551Stop) previously reported, and c.3362del (p.Gly1121ValfsX3) which is a novel frameshift mutation, were identified. Moreover, several <i>PALB2</i> variants were detected; some of them were predicted as pathological by bioinformatic analysis. Considering truncating mutations, the prevalence rate of our population of <i>BRCA1/2</i>-negative breast cancer patients with pancreatic cancer is 1.5%.</p><p>Conclusions</p><p>The prevalence rate of <i>PALB2</i> mutations in non-<i>BRCA1/BRCA2</i> breast/ovarian cancer families, selected from either a personal or family pancreatic cancer history, is similar to that previously described for unselected breast/ovarian cancer families. Future research directed towards identifying other gene(s) involved in the development of breast/pancreatic cancer families is required.</p></div>", "links"=>[], "tags"=>["genetics", "population genetics", "mutation", "Cancer genetics", "Genetic mutation", "Population biology", "Clinical genetics", "genetic testing", "epidemiology", "Genetic epidemiology", "Obstetrics and gynecology", "breast cancer", "oncology", "Cancer risk factors", "Genetic causes of cancer", "Predisposing conditions and syndromes", "Cancers and neoplasms", "Gastrointestinal tumors", "Pancreatic cancer", "Gynecological tumors", "Ovarian cancer", "Breast tumors", "spanish", "hereditary", "cancer", "pancreatic", "cases"], "article_id"=>752122, "categories"=>["Medicine", "Biological Sciences"], "users"=>["Ana Blanco", "Miguel de la Hoya", "Ana Osorio", "Orland Diez", "María Dolores Miramar", "Mar Infante", "Cristina Martinez-Bouzas", "Asunción Torres", "Adriana Lasa", "Gemma Llort", "Joan Brunet", "Begoña Graña", "Pedro Perez Segura", "María José Garcia", "Sara Gutiérrez-Enríquez", "Ángel Carracedo", "María-Isabel Tejada", "Eladio A. Velasco", "María-Teresa Calvo", "Judith Balmaña", "Javier Benitez", "Trinidad Caldés", "Ana Vega"], "doi"=>["https://dx.doi.org/10.1371/journal.pone.0067538.s001", "https://dx.doi.org/10.1371/journal.pone.0067538.s002"], "stats"=>{"downloads"=>6, "page_views"=>10, "likes"=>0}, "figshare_url"=>"https://figshare.com/articles/Analysis_of_PALB2_Gene_in_BRCA1_BRCA2_Negative_Spanish_Hereditary_Breast_Ovarian_Cancer_Families_with_Pancreatic_Cancer_Cases/752122", "title"=>"Analysis of <i>PALB2</i> Gene in <i>BRCA1</i>/<i>BRCA2</i> Negative Spanish Hereditary Breast/Ovarian Cancer Families with Pancreatic Cancer Cases", "pos_in_sequence"=>0, "defined_type"=>4, "published_date"=>"2013-07-23 02:52:05"}

PMC Usage Stats | Further Information

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  • {"unique-ip"=>"28", "full-text"=>"20", "pdf"=>"17", "abstract"=>"0", "scanned-summary"=>"0", "scanned-page-browse"=>"0", "figure"=>"0", "supp-data"=>"0", "cited-by"=>"0", "year"=>"2016", "month"=>"8"}
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Relative Metric

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