Prevalence and spectrum of <i>BRCA</i> germline variants in mainland Chinese familial breast and ovarian cancer patients

Name: Work Video:
Duration: 3 min 30 s
Yeong C. Kim; Linli Zhao; Hanwen Zhang; Ye Huang; Jian Cui; Fengxia Xiao; Bradley M. Downs; San Ming Wang
{'id': 'https://openalex.org/W2287706376', 'doi': 'https://doi.org/10.18632/oncotarget.7144', 'title': 'Prevalence and spectrum of <i>BRCA</i> germline variants in mainland Chinese familial breast and ovarian cancer patients', 'display_name': 'Prevalence and spectrum of <i>BRCA</i> germline variants in mainland Chinese familial breast and ovarian cancer patients', 'publication_year': 2016, 'publication_date': '2016-02-02', 'ids': {'openalex': 'https://openalex.org/W2287706376', 'doi': 'https://doi.org/10.18632/oncotarget.7144', 'mag': '2287706376', 'pmid': 'https://pubmed.ncbi.nlm.nih.gov/26848529', 'pmcid': 'https://www.ncbi.nlm.nih.gov/pmc/articles/4891063'}, 'language': 'en', 'primary_location': {'is_oa': True, 'landing_page_url': 'https://doi.org/10.18632/oncotarget.7144', 'pdf_url': 'https://www.oncotarget.com/article/7144/pdf/', 'source': {'id': 'https://openalex.org/S126644158', 'display_name': 'Oncotarget', 'issn_l': '1949-2553', 'issn': ['1949-2553'], 'is_oa': True, 'is_in_doaj': False, 'is_core': True, 'host_organization': 'https://openalex.org/P4310316297', 'host_organization_name': 'Impact Journals LLC', 'host_organization_lineage': ['https://openalex.org/P4310316297'], 'host_organization_lineage_names': ['Impact Journals LLC'], 'type': 'journal'}, 'license': None, 'license_id': None, 'version': 'publishedVersion', 'is_accepted': True, 'is_published': True}, 'type': 'review', 'type_crossref': 'journal-article', 'indexed_in': ['crossref', 'pubmed'], 'open_access': {'is_oa': True, 'oa_status': 'gold', 'oa_url': 'https://www.oncotarget.com/article/7144/pdf/', 'any_repository_has_fulltext': True}, 'authorships': [{'author_position': 'first', 'author': {'id': 'https://openalex.org/A5072260150', 'display_name': 'Yeong C. Kim', 'orcid': 'https://orcid.org/0000-0002-4526-067X'}, 'institutions': [{'id': 'https://openalex.org/I59130452', 'display_name': 'University of Nebraska Medical Center', 'ror': 'https://ror.org/00thqtb16', 'country_code': 'US', 'type': 'healthcare', 'lineage': ['https://openalex.org/I59130452']}], 'countries': ['US'], 'is_corresponding': False, 'raw_author_name': 'Yeong C. Kim', 'raw_affiliation_strings': ['Department of Genetics, Cell Biology and Anatomy, College of Medicine, University of Nebraska Medical Center, Omaha, NE, USA'], 'affiliations': [{'raw_affiliation_string': 'Department of Genetics, Cell Biology and Anatomy, College of Medicine, University of Nebraska Medical Center, Omaha, NE, USA', 'institution_ids': ['https://openalex.org/I59130452']}]}, {'author_position': 'middle', 'author': {'id': 'https://openalex.org/A5100984765', 'display_name': 'Linli Zhao', 'orcid': None}, 'institutions': [{'id': 'https://openalex.org/I59130452', 'display_name': 'University of Nebraska Medical Center', 'ror': 'https://ror.org/00thqtb16', 'country_code': 'US', 'type': 'healthcare', 'lineage': ['https://openalex.org/I59130452']}], 'countries': ['US'], 'is_corresponding': False, 'raw_author_name': 'Linli Zhao', 'raw_affiliation_strings': ['Department of Genetics, Cell Biology and Anatomy, College of Medicine, University of Nebraska Medical Center, Omaha, NE, USA'], 'affiliations': [{'raw_affiliation_string': 'Department of Genetics, Cell Biology and Anatomy, College of Medicine, University of Nebraska Medical Center, Omaha, NE, USA', 'institution_ids': ['https://openalex.org/I59130452']}]}, {'author_position': 'middle', 'author': {'id': 'https://openalex.org/A5100332186', 'display_name': 'Hanwen Zhang', 'orcid': 'https://orcid.org/0000-0003-4973-0242'}, 'institutions': [{'id': 'https://openalex.org/I59130452', 'display_name': 'University of Nebraska Medical Center', 'ror': 'https://ror.org/00thqtb16', 'country_code': 'US', 'type': 'healthcare', 'lineage': ['https://openalex.org/I59130452']}], 'countries': ['US'], 'is_corresponding': False, 'raw_author_name': 'Hanwen Zhang', 'raw_affiliation_strings': ['Department of Genetics, Cell Biology and Anatomy, College of Medicine, University of Nebraska Medical Center, Omaha, NE, USA'], 'affiliations': [{'raw_affiliation_string': 'Department of Genetics, Cell Biology and Anatomy, College of Medicine, University of Nebraska Medical Center, Omaha, NE, USA', 'institution_ids': ['https://openalex.org/I59130452']}]}, {'author_position': 'middle', 'author': {'id': 'https://openalex.org/A5015660172', 'display_name': 'Ye Huang', 'orcid': 'https://orcid.org/0000-0001-7319-7842'}, 'institutions': [{'id': 'https://openalex.org/I59130452', 'display_name': 'University of Nebraska Medical Center', 'ror': 'https://ror.org/00thqtb16', 'country_code': 'US', 'type': 'healthcare', 'lineage': ['https://openalex.org/I59130452']}], 'countries': ['US'], 'is_corresponding': False, 'raw_author_name': 'Ye Huang', 'raw_affiliation_strings': ['Department of Genetics, Cell Biology and Anatomy, College of Medicine, University of Nebraska Medical Center, Omaha, NE, USA'], 'affiliations': [{'raw_affiliation_string': 'Department of Genetics, Cell Biology and Anatomy, College of Medicine, University of Nebraska Medical Center, Omaha, NE, USA', 'institution_ids': ['https://openalex.org/I59130452']}]}, {'author_position': 'middle', 'author': {'id': 'https://openalex.org/A5082672299', 'display_name': 'Jian Cui', 'orcid': 'https://orcid.org/0000-0003-1228-8876'}, 'institutions': [{'id': 'https://openalex.org/I59130452', 'display_name': 'University of Nebraska Medical Center', 'ror': 'https://ror.org/00thqtb16', 'country_code': 'US', 'type': 'healthcare', 'lineage': ['https://openalex.org/I59130452']}], 'countries': ['US'], 'is_corresponding': False, 'raw_author_name': 'Jian Cui', 'raw_affiliation_strings': ['Department of Genetics, Cell Biology and Anatomy, College of Medicine, University of Nebraska Medical Center, Omaha, NE, USA'], 'affiliations': [{'raw_affiliation_string': 'Department of Genetics, Cell Biology and Anatomy, College of Medicine, University of Nebraska Medical Center, Omaha, NE, USA', 'institution_ids': ['https://openalex.org/I59130452']}]}, {'author_position': 'middle', 'author': {'id': 'https://openalex.org/A5102102698', 'display_name': 'Fengxia Xiao', 'orcid': None}, 'institutions': [{'id': 'https://openalex.org/I59130452', 'display_name': 'University of Nebraska Medical Center', 'ror': 'https://ror.org/00thqtb16', 'country_code': 'US', 'type': 'healthcare', 'lineage': ['https://openalex.org/I59130452']}], 'countries': ['US'], 'is_corresponding': False, 'raw_author_name': 'Fengxia Xiao', 'raw_affiliation_strings': ['Department of Genetics, Cell Biology and Anatomy, College of Medicine, University of Nebraska Medical Center, Omaha, NE, USA'], 'affiliations': [{'raw_affiliation_string': 'Department of Genetics, Cell Biology and Anatomy, College of Medicine, University of Nebraska Medical Center, Omaha, NE, USA', 'institution_ids': ['https://openalex.org/I59130452']}]}, {'author_position': 'middle', 'author': {'id': 'https://openalex.org/A5088375286', 'display_name': 'Bradley M. Downs', 'orcid': 'https://orcid.org/0000-0001-6156-510X'}, 'institutions': [{'id': 'https://openalex.org/I59130452', 'display_name': 'University of Nebraska Medical Center', 'ror': 'https://ror.org/00thqtb16', 'country_code': 'US', 'type': 'healthcare', 'lineage': ['https://openalex.org/I59130452']}], 'countries': ['US'], 'is_corresponding': False, 'raw_author_name': 'Bradley Downs', 'raw_affiliation_strings': ['Department of Genetics, Cell Biology and Anatomy, College of Medicine, University of Nebraska Medical Center, Omaha, NE, USA'], 'affiliations': [{'raw_affiliation_string': 'Department of Genetics, Cell Biology and Anatomy, College of Medicine, University of Nebraska Medical Center, Omaha, NE, USA', 'institution_ids': ['https://openalex.org/I59130452']}]}, {'author_position': 'last', 'author': {'id': 'https://openalex.org/A5032330103', 'display_name': 'San Ming Wang', 'orcid': 'https://orcid.org/0000-0002-2172-1320'}, 'institutions': [{'id': 'https://openalex.org/I59130452', 'display_name': 'University of Nebraska Medical Center', 'ror': 'https://ror.org/00thqtb16', 'country_code': 'US', 'type': 'healthcare', 'lineage': ['https://openalex.org/I59130452']}], 'countries': ['US'], 'is_corresponding': True, 'raw_author_name': 'San Ming Wang', 'raw_affiliation_strings': ['Department of Genetics, Cell Biology and Anatomy, College of Medicine, University of Nebraska Medical Center, Omaha, NE, USA'], 'affiliations': [{'raw_affiliation_string': 'Department of Genetics, Cell Biology and Anatomy, College of Medicine, University of Nebraska Medical Center, Omaha, NE, USA', 'institution_ids': ['https://openalex.org/I59130452']}]}], 'institution_assertions': [], 'countries_distinct_count': 1, 'institutions_distinct_count': 1, 'corresponding_author_ids': ['https://openalex.org/A5032330103'], 'corresponding_institution_ids': ['https://openalex.org/I59130452'], 'apc_list': None, 'apc_paid': None, 'fwci': 1.409, 'has_fulltext': True, 'fulltext_origin': 'pdf', 'cited_by_count': 55, 'citation_normalized_percentile': {'value': 0.999114, 'is_in_top_1_percent': True, 'is_in_top_10_percent': True}, 'cited_by_percentile_year': {'min': 96, 'max': 97}, 'biblio': {'volume': '7', 'issue': '8', 'first_page': '9600', 'last_page': '9612'}, 'is_retracted': False, 'is_paratext': False, 'primary_topic': {'id': 'https://openalex.org/T10769', 'display_name': 'BRCA gene mutations in cancer', 'score': 0.9999, 'subfield': {'id': 'https://openalex.org/subfields/1311', 'display_name': 'Genetics'}, 'field': {'id': 'https://openalex.org/fields/13', 'display_name': 'Biochemistry, Genetics and Molecular Biology'}, 'domain': {'id': 'https://openalex.org/domains/1', 'display_name': 'Life Sciences'}}, 'topics': [{'id': 'https://openalex.org/T10769', 'display_name': 'BRCA gene mutations in cancer', 'score': 0.9999, 'subfield': {'id': 'https://openalex.org/subfields/1311', 'display_name': 'Genetics'}, 'field': {'id': 'https://openalex.org/fields/13', 'display_name': 'Biochemistry, Genetics and Molecular Biology'}, 'domain': {'id': 'https://openalex.org/domains/1', 'display_name': 'Life Sciences'}}, {'id': 'https://openalex.org/T11213', 'display_name': 'Genomic variations and chromosomal abnormalities', 'score': 0.9849, 'subfield': {'id': 'https://openalex.org/subfields/1311', 'display_name': 'Genetics'}, 'field': {'id': 'https://openalex.org/fields/13', 'display_name': 'Biochemistry, Genetics and Molecular Biology'}, 'domain': {'id': 'https://openalex.org/domains/1', 'display_name': 'Life Sciences'}}, {'id': 'https://openalex.org/T10878', 'display_name': 'CRISPR and Genetic Engineering', 'score': 0.9772, 'subfield': {'id': 'https://openalex.org/subfields/1312', 'display_name': 'Molecular Biology'}, 'field': {'id': 'https://openalex.org/fields/13', 'display_name': 'Biochemistry, Genetics and Molecular Biology'}, 'domain': {'id': 'https://openalex.org/domains/1', 'display_name': 'Life Sciences'}}], 'keywords': [{'id': 'https://openalex.org/keywords/mainland', 'display_name': 'Mainland', 'score': 0.42863834}], 'concepts': [{'id': 'https://openalex.org/C2780427987', 'wikidata': 'https://www.wikidata.org/wiki/Q172341', 'display_name': 'Ovarian cancer', 'level': 3, 'score': 0.6281466}, {'id': 'https://openalex.org/C530470458', 'wikidata': 'https://www.wikidata.org/wiki/Q128581', 'display_name': 'Breast cancer', 'level': 3, 'score': 0.6199264}, {'id': 'https://openalex.org/C71924100', 'wikidata': 'https://www.wikidata.org/wiki/Q11190', 'display_name': 'Medicine', 'level': 0, 'score': 0.52343273}, {'id': 'https://openalex.org/C109825262', 'wikidata': 'https://www.wikidata.org/wiki/Q1139164', 'display_name': 'Germline', 'level': 3, 'score': 0.48588365}, {'id': 'https://openalex.org/C2908647359', 'wikidata': 'https://www.wikidata.org/wiki/Q2625603', 'display_name': 'Population', 'level': 2, 'score': 0.48060414}, {'id': 'https://openalex.org/C29456083', 'wikidata': 'https://www.wikidata.org/wiki/Q1221899', 'display_name': 'Gynecology', 'level': 1, 'score': 0.4520247}, {'id': 'https://openalex.org/C143998085', 'wikidata': 'https://www.wikidata.org/wiki/Q162555', 'display_name': 'Oncology', 'level': 1, 'score': 0.44653454}, {'id': 'https://openalex.org/C107029721', 'wikidata': 'https://www.wikidata.org/wiki/Q19188', 'display_name': 'Mainland China', 'level': 3, 'score': 0.43122768}, {'id': 'https://openalex.org/C2781300146', 'wikidata': 'https://www.wikidata.org/wiki/Q1140140', 'display_name': 'Mainland', 'level': 2, 'score': 0.42863834}, {'id': 'https://openalex.org/C13514818', 'wikidata': 'https://www.wikidata.org/wiki/Q5552256', 'display_name': 'Germline mutation', 'level': 4, 'score': 0.42676342}, {'id': 'https://openalex.org/C149923435', 'wikidata': 'https://www.wikidata.org/wiki/Q37732', 'display_name': 'Demography', 'level': 1, 'score': 0.3981868}, {'id': 'https://openalex.org/C121608353', 'wikidata': 'https://www.wikidata.org/wiki/Q12078', 'display_name': 'Cancer', 'level': 2, 'score': 0.38944358}, {'id': 'https://openalex.org/C54355233', 'wikidata': 'https://www.wikidata.org/wiki/Q7162', 'display_name': 'Genetics', 'level': 1, 'score': 0.3707895}, {'id': 'https://openalex.org/C126322002', 'wikidata': 'https://www.wikidata.org/wiki/Q11180', 'display_name': 'Internal medicine', 'level': 1, 'score': 0.31561857}, {'id': 'https://openalex.org/C501734568', 'wikidata': 'https://www.wikidata.org/wiki/Q42918', 'display_name': 'Mutation', 'level': 3, 'score': 0.26390737}, {'id': 'https://openalex.org/C86803240', 'wikidata': 'https://www.wikidata.org/wiki/Q420', 'display_name': 'Biology', 'level': 0, 'score': 0.2507327}, {'id': 'https://openalex.org/C104317684', 'wikidata': 'https://www.wikidata.org/wiki/Q7187', 'display_name': 'Gene', 'level': 2, 'score': 0.14916098}, {'id': 'https://openalex.org/C191935318', 'wikidata': 'https://www.wikidata.org/wiki/Q148', 'display_name': 'China', 'level': 2, 'score': 0.14423981}, {'id': 'https://openalex.org/C95457728', 'wikidata': 'https://www.wikidata.org/wiki/Q309', 'display_name': 'History', 'level': 0, 'score': 0.11601752}, {'id': 'https://openalex.org/C99454951', 'wikidata': 'https://www.wikidata.org/wiki/Q932068', 'display_name': 'Environmental health', 'level': 1, 'score': 0.07591957}, {'id': 'https://openalex.org/C166957645', 'wikidata': 'https://www.wikidata.org/wiki/Q23498', 'display_name': 'Archaeology', 'level': 1, 'score': 0.0}, {'id': 'https://openalex.org/C144024400', 'wikidata': 'https://www.wikidata.org/wiki/Q21201', 'display_name': 'Sociology', 'level': 0, 'score': 0.0}, {'id': 'https://openalex.org/C18903297', 'wikidata': 'https://www.wikidata.org/wiki/Q7150', 'display_name': 'Ecology', 'level': 1, 'score': 0.0}], 'mesh': [{'descriptor_ui': 'D019313', 'descriptor_name': 'BRCA1 Protein', 'qualifier_ui': 'Q000235', 'qualifier_name': 'genetics', 'is_major_topic': True}, {'descriptor_ui': 'D024682', 'descriptor_name': 'BRCA2 Protein', 'qualifier_ui': 'Q000235', 'qualifier_name': 'genetics', 'is_major_topic': True}, {'descriptor_ui': 'D001943', 'descriptor_name': 'Breast Neoplasms', 'qualifier_ui': 'Q000235', 'qualifier_name': 'genetics', 'is_major_topic': True}, {'descriptor_ui': 'D020022', 'descriptor_name': 'Genetic Predisposition to Disease', 'qualifier_ui': '', 'qualifier_name': None, 'is_major_topic': True}, {'descriptor_ui': 'D018095', 'descriptor_name': 'Germ-Line Mutation', 'qualifier_ui': 'Q000235', 'qualifier_name': 'genetics', 'is_major_topic': True}, {'descriptor_ui': 'D010051', 'descriptor_name': 'Ovarian Neoplasms', 'qualifier_ui': 'Q000235', 'qualifier_name': 'genetics', 'is_major_topic': True}, {'descriptor_ui': 'D044466', 'descriptor_name': 'Asians', 'qualifier_ui': 'Q000235', 'qualifier_name': 'genetics', 'is_major_topic': False}, {'descriptor_ui': 'D044466', 'descriptor_name': 'Asians', 'qualifier_ui': '', 'qualifier_name': None, 'is_major_topic': False}, {'descriptor_ui': 'D019313', 'descriptor_name': 'BRCA1 Protein', 'qualifier_ui': '', 'qualifier_name': None, 'is_major_topic': False}, {'descriptor_ui': 'D024682', 'descriptor_name': 'BRCA2 Protein', 'qualifier_ui': '', 'qualifier_name': None, 'is_major_topic': False}, {'descriptor_ui': 'D001943', 'descriptor_name': 'Breast Neoplasms', 'qualifier_ui': '', 'qualifier_name': None, 'is_major_topic': False}, {'descriptor_ui': 'D002681', 'descriptor_name': 'China', 'qualifier_ui': '', 'qualifier_name': None, 'is_major_topic': False}, {'descriptor_ui': 'D005260', 'descriptor_name': 'Female', 'qualifier_ui': '', 'qualifier_name': None, 'is_major_topic': False}, {'descriptor_ui': 'D005787', 'descriptor_name': 'Gene Frequency', 'qualifier_ui': '', 'qualifier_name': None, 'is_major_topic': False}, {'descriptor_ui': 'D005787', 'descriptor_name': 'Gene Frequency', 'qualifier_ui': 'Q000235', 'qualifier_name': 'genetics', 'is_major_topic': False}, {'descriptor_ui': 'D014644', 'descriptor_name': 'Genetic Variation', 'qualifier_ui': '', 'qualifier_name': None, 'is_major_topic': False}, {'descriptor_ui': 'D014644', 'descriptor_name': 'Genetic Variation', 'qualifier_ui': 'Q000235', 'qualifier_name': 'genetics', 'is_major_topic': False}, {'descriptor_ui': 'D018095', 'descriptor_name': 'Germ-Line Mutation', 'qualifier_ui': '', 'qualifier_name': None, 'is_major_topic': False}, {'descriptor_ui': 'D006801', 'descriptor_name': 'Humans', 'qualifier_ui': '', 'qualifier_name': None, 'is_major_topic': False}, {'descriptor_ui': 'D010051', 'descriptor_name': 'Ovarian Neoplasms', 'qualifier_ui': '', 'qualifier_name': None, 'is_major_topic': False}], 'locations_count': 4, 'locations': [{'is_oa': True, 'landing_page_url': 'https://doi.org/10.18632/oncotarget.7144', 'pdf_url': 'https://www.oncotarget.com/article/7144/pdf/', 'source': {'id': 'https://openalex.org/S126644158', 'display_name': 'Oncotarget', 'issn_l': '1949-2553', 'issn': ['1949-2553'], 'is_oa': True, 'is_in_doaj': False, 'is_core': True, 'host_organization': 'https://openalex.org/P4310316297', 'host_organization_name': 'Impact Journals LLC', 'host_organization_lineage': ['https://openalex.org/P4310316297'], 'host_organization_lineage_names': ['Impact Journals LLC'], 'type': 'journal'}, 'license': None, 'license_id': None, 'version': 'publishedVersion', 'is_accepted': True, 'is_published': True}, {'is_oa': True, 'landing_page_url': 'https://europepmc.org/articles/pmc4891063', 'pdf_url': 'https://europepmc.org/articles/pmc4891063?pdf=render', 'source': {'id': 'https://openalex.org/S4306400806', 'display_name': 'Europe PMC (PubMed Central)', 'issn_l': None, 'issn': None, 'is_oa': True, 'is_in_doaj': False, 'is_core': False, 'host_organization': 'https://openalex.org/I1303153112', 'host_organization_name': 'European Bioinformatics Institute', 'host_organization_lineage': ['https://openalex.org/I1303153112'], 'host_organization_lineage_names': ['European Bioinformatics Institute'], 'type': 'repository'}, 'license': 'cc-by', 'license_id': 'https://openalex.org/licenses/cc-by', 'version': 'publishedVersion', 'is_accepted': True, 'is_published': True}, {'is_oa': True, 'landing_page_url': 'https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4891063', 'pdf_url': None, 'source': {'id': 'https://openalex.org/S2764455111', 'display_name': 'PubMed Central', 'issn_l': None, 'issn': None, 'is_oa': True, 'is_in_doaj': False, 'is_core': False, 'host_organization': 'https://openalex.org/I1299303238', 'host_organization_name': 'National Institutes of Health', 'host_organization_lineage': ['https://openalex.org/I1299303238'], 'host_organization_lineage_names': ['National Institutes of Health'], 'type': 'repository'}, 'license': None, 'license_id': None, 'version': 'publishedVersion', 'is_accepted': True, 'is_published': True}, {'is_oa': False, 'landing_page_url': 'https://pubmed.ncbi.nlm.nih.gov/26848529', 'pdf_url': None, 'source': {'id': 'https://openalex.org/S4306525036', 'display_name': 'PubMed', 'issn_l': None, 'issn': None, 'is_oa': False, 'is_in_doaj': False, 'is_core': False, 'host_organization': 'https://openalex.org/I1299303238', 'host_organization_name': 'National Institutes of Health', 'host_organization_lineage': ['https://openalex.org/I1299303238'], 'host_organization_lineage_names': ['National Institutes of Health'], 'type': 'repository'}, 'license': None, 'license_id': None, 'version': None, 'is_accepted': False, 'is_published': False}], 'best_oa_location': {'is_oa': True, 'landing_page_url': 'https://doi.org/10.18632/oncotarget.7144', 'pdf_url': 'https://www.oncotarget.com/article/7144/pdf/', 'source': {'id': 'https://openalex.org/S126644158', 'display_name': 'Oncotarget', 'issn_l': '1949-2553', 'issn': ['1949-2553'], 'is_oa': True, 'is_in_doaj': False, 'is_core': True, 'host_organization': 'https://openalex.org/P4310316297', 'host_organization_name': 'Impact Journals LLC', 'host_organization_lineage': ['https://openalex.org/P4310316297'], 'host_organization_lineage_names': ['Impact Journals LLC'], 'type': 'journal'}, 'license': None, 'license_id': None, 'version': 'publishedVersion', 'is_accepted': True, 'is_published': True}, 'sustainable_development_goals': [{'score': 0.79, 'id': 'https://metadata.un.org/sdg/3', 'display_name': 'Good health and well-being'}], 'grants': [], 'datasets': [], 'versions': [], 'referenced_works_count': 46, 'referenced_works': ['https://openalex.org/W1514438602', 'https://openalex.org/W1568615316', 'https://openalex.org/W164325133', 'https://openalex.org/W1966070030', 'https://openalex.org/W2009337136', 'https://openalex.org/W2023425329', 'https://openalex.org/W2045667568', 'https://openalex.org/W2048362391', 'https://openalex.org/W2055449612', 'https://openalex.org/W2060886652', 'https://openalex.org/W2067993067', 'https://openalex.org/W2070919580', 'https://openalex.org/W2078161559', 'https://openalex.org/W2080382519', 'https://openalex.org/W2087823623', 'https://openalex.org/W2090740451', 'https://openalex.org/W2093883839', 'https://openalex.org/W2109465247', 'https://openalex.org/W2115164128', 'https://openalex.org/W2124371549', 'https://openalex.org/W2128467945', 'https://openalex.org/W2143929685', 'https://openalex.org/W2155822241', 'https://openalex.org/W2158097747', 'https://openalex.org/W2162956417', 'https://openalex.org/W2168718259', 'https://openalex.org/W2254155967', 'https://openalex.org/W2317761673', 'https://openalex.org/W2328105863', 'https://openalex.org/W2348439745', 'https://openalex.org/W2348862554', 'https://openalex.org/W2354936843', 'https://openalex.org/W2357706631', 'https://openalex.org/W2368719158', 'https://openalex.org/W2373041826', 'https://openalex.org/W2394218861', 'https://openalex.org/W2401054465', 'https://openalex.org/W2407014355', 'https://openalex.org/W2410245265', 'https://openalex.org/W2414615179', 'https://openalex.org/W2417365121', 'https://openalex.org/W283867195', 'https://openalex.org/W4246249047', 'https://openalex.org/W4285719527', 'https://openalex.org/W88304370', 'https://openalex.org/W89349328'], 'related_works': ['https://openalex.org/W4296060409', 'https://openalex.org/W4247239363', 'https://openalex.org/W4221137512', 'https://openalex.org/W2613868166', 'https://openalex.org/W2382464866', 'https://openalex.org/W2363784875', 'https://openalex.org/W2349308650', 'https://openalex.org/W2322817515', 'https://openalex.org/W2067324420', 'https://openalex.org/W2009580730'], 'abstract_inverted_index': {'//': [0, 68], 'Yeong': [1], 'C.': [2], 'Kim': [3], '1,*': [4, 8, 12], ',': [5, 9, 13, 17, 21, 25], 'Linli': [6], 'Zhao': [7], 'Hanwen': [10], 'Zhang': [11], 'Ye': [14], 'Huang': [15], '1': [16, 20, 24, 28, 33, 34], 'Jian': [18], 'Cui': [19], 'Fengxia': [22], 'Xiao': [23], 'Bradley': [26], 'Downs': [27], 'and': [29, 40, 79, 102, 112, 115, 127, 137, 186, 200, 220, 232, 256, 258, 283, 290, 307, 340], 'San': [30, 64], 'Ming': [31, 65], 'Wang': [32], 'Department': [35], 'of': [36, 43, 46, 129, 158, 165, 198, 207, 216, 269, 315, 332, 359], 'Genetics,': [37], 'Cell': [38], 'Biology': [39], 'Anatomy,': [41], 'College': [42], 'Medicine,': [44], 'University': [45], 'Nebraska': [47], 'Medical': [48], 'Center,': [49], 'Omaha,': [50], 'NE,': [51], 'USA': [52], '*': [53], 'These': [54], 'authors': [55], 'have': [56], 'contributed': [57], 'equally': [58], 'to': [59, 176, 349], 'the': [60, 105, 125, 150, 166, 267, 295, 316, 320, 330, 351, 357], 'study': [61], 'Correspondence': [62], 'to:': [63], 'Wang,': [66], 'email:': [67], 'Keywords': [69], ':': [70, 83, 88, 93], 'germline': [71], 'variant,': [72], 'BRCA1,': [73], 'BRCA2,': [74], 'mainland': [75, 151, 182, 209, 336], 'Chinese,': [76], 'familial': [77, 184, 338], 'breast': [78, 111, 185, 339], 'ovarian': [80, 113, 187, 341], 'cancer': [81, 188, 342], 'Received': [82], 'September': [84], '28,': [85], '2015': [86], 'Accepted': [87], 'January': [89], '18,': [90], '2016': [91, 96], 'Published': [92], 'February': [94], '02,': [95], 'Abstract': [97], 'Germline': [98], 'mutations': [99, 131, 322], 'in': [100, 135, 146, 196, 205, 230, 234, 238, 250, 262, 266, 277, 280, 284, 287, 292, 300, 304, 308, 311, 323, 335], 'BRCA1': [101, 194, 219, 231, 251, 278, 301], 'BRCA2': [103, 203, 223, 235, 259, 285, 309], 'are': [104, 236], 'most': [106, 273, 296], 'penetrating': [107], 'genetic': [108], 'predispositions': [109], 'for': [110, 162, 218, 222], 'cancer,': [114], 'their': [116], 'presence': [117], 'is': [118, 144, 344, 353], 'largely': [119], 'ethnic-specific': [120], '.': [121, 224], 'Comprehensive': [122], 'information': [123, 143], 'about': [124], 'prevalence': [126, 215, 331], 'spectrum': [128, 352], 'BRCA': [130, 178, 333], 'has': [132], 'been': [133], 'collected': [134], 'European': [136], 'North': [138], 'American': [139], 'populations.': [140, 271, 325, 361], 'However,': [141], 'similar': [142, 348], 'lacking': [145], 'other': [147, 270, 324, 360], 'populations,': [148], 'including': [149], 'Chinese': [152, 183, 210, 263, 337], 'population': [153], 'despite': [154], 'its': [155], 'large': [156], 'size': [157], '1.4': [159], 'billion': [160], 'accounting': [161], 'one': [163], 'fifth': [164], "world's": [167], 'population.': [168], 'Herein,': [169], 'we': [170], 'performed': [171], 'an': [172, 213], 'extensive': [173], 'literature': [174], 'analysis': [175, 327], 'collect': [177], 'variants': [179, 195, 204, 317], 'identified': [180], 'from': [181, 356], 'patients.': [189], 'We': [190, 245], 'observed': [191, 246], '137': [192], 'distinct': [193, 202], '409': [197], '3,844': [199], '80': [201], '157': [206], '3,024': [208], 'patients,': [211], 'with': [212, 319], 'estimated': [214], '10.6%': [217], '5.2%': [221], 'Of': [225], 'these': [226], 'variants,': [227], 'only': [228], '40.3%': [229], '42.5%': [233], 'listed': [237], 'current': [239], 'Breast': [240], 'Cancer': [241], 'Information': [242], 'Core': [243], 'database.': [244], 'higher': [247], 'frequent': [248], 'variation': [249, 334], 'exons': [252], '11A,': [253, 282], '11C,': [254], '11D,': [255], '24': [257], 'exon': [260, 281, 288, 293, 305, 312], '10': [261], 'patients': [264, 268, 343], 'than': [265], 'The': [272], 'common': [274, 297], 'pathogenic': [275], 'variant': [276, 299], 'wasc.981_982delAT': [279], 'c.3195_3198delTAAT': [286], '11B': [289], 'c.5576_5579delTTAA': [291], '11E;': [294], 'novel': [298], 'was': [302], 'c.919A>G': [303], '10A,': [306], 'c.7142delC': [310], '14.': [313], 'None': [314], 'overlap': [318], 'founder': [321], 'Our': [326], 'indicates': [328], 'that': [329], 'at': [345], 'a': [346], 'level': [347], 'but': [350], 'substantially': [354], 'different': [355], 'ones': [358]}, 'cited_by_api_url': 'https://api.openalex.org/works?filter=cites:W2287706376', 'counts_by_year': [{'year': 2024, 'cited_by_count': 3}, {'year': 2023, 'cited_by_count': 4}, {'year': 2022, 'cited_by_count': 11}, {'year': 2021, 'cited_by_count': 5}, {'year': 2020, 'cited_by_count': 5}, {'year': 2019, 'cited_by_count': 11}, {'year': 2018, 'cited_by_count': 7}, {'year': 2017, 'cited_by_count': 8}, {'year': 2016, 'cited_by_count': 1}], 'updated_date': '2024-12-08T11:22:03.081062', 'created_date': '2016-06-24'}
Publication Information

Basic Information

Access and Citation

AI Researcher Chatbot

Primary Location

Authors

Topics

Keywords

Related Works
