Ontology type: schema:ScholarlyArticle Open Access: True
2021-07-13
AUTHORSGang Ji, Longlong Bao, Qianlan Yao, Jing Zhang, Xiaoli Zhu, Qianming Bai, Zhiming Shao, Wentao Yang, Xiaoyan Zhou
ABSTRACTPurposeBRCA1/2 screening for all triple-negative breast cancer (TNBC) patients younger than 60 years may still be an economic burden in China. Further evidences that include incidence and outcome of BRCA1/2 pathogenic variants (PV) screened based on younger age or family history (FH) are worth discussing for improving the cost-effectiveness of BRCA1/2 testing in Chinese TNBC. We aimed to investigate the prevalence of germline and tumor BRCA1/2 PV based on age screening in Chinese TNBC patients.MethodsPaired blood and tumor DNA from 124 unselected Chinese TNBC patients with less than or equal to 55 years were collected and analyzed for BRCA1/2 PV. Clinicopathological characteristics including age at diagnosis, FH and follow-up data were collected for further analysis.ResultsThe entire frequency of germline and tumor BRCA1/2 PV was 21.0 and 25%, respectively. Among them, 20 (16.1%) germline and 5 (4.0%) somatic BRCA1/2 single-nucleotide variant/insertion/deletions were found by NGS testing, 6 (4.8%) BRCA1 large genomic rearrangements were detected in blood DNA by MPLA. There was significant correlation between FH of HBOC and germline BRCA1/2 PVs among these patients. Patients with tumor BRCA1/2 PVs had significant improvements than non-carriers in PFS (p = 0.047). No significant impacts were found between various mutation status in OS outcomes. No significant differences were found between BRCA1 or BRCA2 and non-carriers in PFS or OS.ConclusionThere is a high incidence of germline and tumor BRCA1/2 PVs in Chinese TNBC patients with less than or equal to 55 years old. Tumor BRCA1/2 PV carriers showed an improved survival outcome. Our results suggest that BRCA1/2 PVs testing addressed within each specific clinical scenario could be more cost-effective for patients. More... »
PAGES2935-2944
http://scigraph.springernature.com/pub.10.1007/s00432-021-03696-2
DOIhttp://dx.doi.org/10.1007/s00432-021-03696-2
DIMENSIONShttps://app.dimensions.ai/details/publication/pub.1139631987
PUBMEDhttps://www.ncbi.nlm.nih.gov/pubmed/34254208
JSON-LD is the canonical representation for SciGraph data.
TIP: You can open this SciGraph record using an external JSON-LD service: JSON-LD Playground Google SDTT
[
{
"@context": "https://springernature.github.io/scigraph/jsonld/sgcontext.json",
"about": [
{
"id": "http://purl.org/au-research/vocabulary/anzsrc-for/2008/11",
"inDefinedTermSet": "http://purl.org/au-research/vocabulary/anzsrc-for/2008/",
"name": "Medical and Health Sciences",
"type": "DefinedTerm"
},
{
"id": "http://purl.org/au-research/vocabulary/anzsrc-for/2008/1112",
"inDefinedTermSet": "http://purl.org/au-research/vocabulary/anzsrc-for/2008/",
"name": "Oncology and Carcinogenesis",
"type": "DefinedTerm"
},
{
"inDefinedTermSet": "https://www.nlm.nih.gov/mesh/",
"name": "Adolescent",
"type": "DefinedTerm"
},
{
"inDefinedTermSet": "https://www.nlm.nih.gov/mesh/",
"name": "Adult",
"type": "DefinedTerm"
},
{
"inDefinedTermSet": "https://www.nlm.nih.gov/mesh/",
"name": "Asians",
"type": "DefinedTerm"
},
{
"inDefinedTermSet": "https://www.nlm.nih.gov/mesh/",
"name": "BRCA1 Protein",
"type": "DefinedTerm"
},
{
"inDefinedTermSet": "https://www.nlm.nih.gov/mesh/",
"name": "BRCA2 Protein",
"type": "DefinedTerm"
},
{
"inDefinedTermSet": "https://www.nlm.nih.gov/mesh/",
"name": "Biomarkers, Tumor",
"type": "DefinedTerm"
},
{
"inDefinedTermSet": "https://www.nlm.nih.gov/mesh/",
"name": "China",
"type": "DefinedTerm"
},
{
"inDefinedTermSet": "https://www.nlm.nih.gov/mesh/",
"name": "Female",
"type": "DefinedTerm"
},
{
"inDefinedTermSet": "https://www.nlm.nih.gov/mesh/",
"name": "Follow-Up Studies",
"type": "DefinedTerm"
},
{
"inDefinedTermSet": "https://www.nlm.nih.gov/mesh/",
"name": "Genetic Predisposition to Disease",
"type": "DefinedTerm"
},
{
"inDefinedTermSet": "https://www.nlm.nih.gov/mesh/",
"name": "Genetic Testing",
"type": "DefinedTerm"
},
{
"inDefinedTermSet": "https://www.nlm.nih.gov/mesh/",
"name": "Germ-Line Mutation",
"type": "DefinedTerm"
},
{
"inDefinedTermSet": "https://www.nlm.nih.gov/mesh/",
"name": "Humans",
"type": "DefinedTerm"
},
{
"inDefinedTermSet": "https://www.nlm.nih.gov/mesh/",
"name": "Middle Aged",
"type": "DefinedTerm"
},
{
"inDefinedTermSet": "https://www.nlm.nih.gov/mesh/",
"name": "Prognosis",
"type": "DefinedTerm"
},
{
"inDefinedTermSet": "https://www.nlm.nih.gov/mesh/",
"name": "Survival Rate",
"type": "DefinedTerm"
},
{
"inDefinedTermSet": "https://www.nlm.nih.gov/mesh/",
"name": "Triple Negative Breast Neoplasms",
"type": "DefinedTerm"
},
{
"inDefinedTermSet": "https://www.nlm.nih.gov/mesh/",
"name": "Young Adult",
"type": "DefinedTerm"
}
],
"author": [
{
"affiliation": {
"alternateName": "Institute of Pathology, Fudan University, 200032, Shanghai, China",
"id": "http://www.grid.ac/institutes/grid.8547.e",
"name": [
"Department of Pathology, Fudan University Shanghai Cancer Center, 200032, Shanghai, China",
"Department of Oncology, Shanghai Medical College, Fudan University, 200032, Shanghai, China",
"Institute of Pathology, Fudan University, 200032, Shanghai, China"
],
"type": "Organization"
},
"familyName": "Ji",
"givenName": "Gang",
"id": "sg:person.01122265405.08",
"sameAs": [
"https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01122265405.08"
],
"type": "Person"
},
{
"affiliation": {
"alternateName": "Institute of Pathology, Fudan University, 200032, Shanghai, China",
"id": "http://www.grid.ac/institutes/grid.8547.e",
"name": [
"Department of Pathology, Fudan University Shanghai Cancer Center, 200032, Shanghai, China",
"Department of Oncology, Shanghai Medical College, Fudan University, 200032, Shanghai, China",
"Institute of Pathology, Fudan University, 200032, Shanghai, China"
],
"type": "Organization"
},
"familyName": "Bao",
"givenName": "Longlong",
"id": "sg:person.013071156557.01",
"sameAs": [
"https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.013071156557.01"
],
"type": "Person"
},
{
"affiliation": {
"alternateName": "Institute of Pathology, Fudan University, 200032, Shanghai, China",
"id": "http://www.grid.ac/institutes/grid.8547.e",
"name": [
"Department of Pathology, Fudan University Shanghai Cancer Center, 200032, Shanghai, China",
"Department of Oncology, Shanghai Medical College, Fudan University, 200032, Shanghai, China",
"Institute of Pathology, Fudan University, 200032, Shanghai, China"
],
"type": "Organization"
},
"familyName": "Yao",
"givenName": "Qianlan",
"id": "sg:person.0720235356.22",
"sameAs": [
"https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.0720235356.22"
],
"type": "Person"
},
{
"affiliation": {
"alternateName": "Institute of Pathology, Fudan University, 200032, Shanghai, China",
"id": "http://www.grid.ac/institutes/grid.8547.e",
"name": [
"Department of Pathology, Fudan University Shanghai Cancer Center, 200032, Shanghai, China",
"Department of Oncology, Shanghai Medical College, Fudan University, 200032, Shanghai, China",
"Institute of Pathology, Fudan University, 200032, Shanghai, China"
],
"type": "Organization"
},
"familyName": "Zhang",
"givenName": "Jing",
"type": "Person"
},
{
"affiliation": {
"alternateName": "Institute of Pathology, Fudan University, 200032, Shanghai, China",
"id": "http://www.grid.ac/institutes/grid.8547.e",
"name": [
"Department of Pathology, Fudan University Shanghai Cancer Center, 200032, Shanghai, China",
"Department of Oncology, Shanghai Medical College, Fudan University, 200032, Shanghai, China",
"Institute of Pathology, Fudan University, 200032, Shanghai, China"
],
"type": "Organization"
},
"familyName": "Zhu",
"givenName": "Xiaoli",
"id": "sg:person.01311726114.78",
"sameAs": [
"https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01311726114.78"
],
"type": "Person"
},
{
"affiliation": {
"alternateName": "Institute of Pathology, Fudan University, 200032, Shanghai, China",
"id": "http://www.grid.ac/institutes/grid.8547.e",
"name": [
"Department of Pathology, Fudan University Shanghai Cancer Center, 200032, Shanghai, China",
"Department of Oncology, Shanghai Medical College, Fudan University, 200032, Shanghai, China",
"Institute of Pathology, Fudan University, 200032, Shanghai, China"
],
"type": "Organization"
},
"familyName": "Bai",
"givenName": "Qianming",
"id": "sg:person.01257353151.80",
"sameAs": [
"https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01257353151.80"
],
"type": "Person"
},
{
"affiliation": {
"alternateName": "Institute of Pathology, Fudan University, 200032, Shanghai, China",
"id": "http://www.grid.ac/institutes/grid.8547.e",
"name": [
"Department of Breast Surgery, Fudan University Shanghai Cancer Center, 200032, Shanghai, China",
"Department of Oncology, Shanghai Medical College, Fudan University, 200032, Shanghai, China",
"Institute of Pathology, Fudan University, 200032, Shanghai, China"
],
"type": "Organization"
},
"familyName": "Shao",
"givenName": "Zhiming",
"id": "sg:person.011433144317.11",
"sameAs": [
"https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.011433144317.11"
],
"type": "Person"
},
{
"affiliation": {
"alternateName": "Institute of Pathology, Fudan University, 200032, Shanghai, China",
"id": "http://www.grid.ac/institutes/grid.8547.e",
"name": [
"Department of Pathology, Fudan University Shanghai Cancer Center, 200032, Shanghai, China",
"Department of Oncology, Shanghai Medical College, Fudan University, 200032, Shanghai, China",
"Institute of Pathology, Fudan University, 200032, Shanghai, China"
],
"type": "Organization"
},
"familyName": "Yang",
"givenName": "Wentao",
"id": "sg:person.01333675634.21",
"sameAs": [
"https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01333675634.21"
],
"type": "Person"
},
{
"affiliation": {
"alternateName": "Institute of Pathology, Fudan University, 200032, Shanghai, China",
"id": "http://www.grid.ac/institutes/grid.8547.e",
"name": [
"Department of Pathology, Fudan University Shanghai Cancer Center, 200032, Shanghai, China",
"Department of Oncology, Shanghai Medical College, Fudan University, 200032, Shanghai, China",
"Institute of Pathology, Fudan University, 200032, Shanghai, China"
],
"type": "Organization"
},
"familyName": "Zhou",
"givenName": "Xiaoyan",
"id": "sg:person.01010610662.09",
"sameAs": [
"https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01010610662.09"
],
"type": "Person"
}
],
"citation": [
{
"id": "sg:pub.10.1007/s00432-017-2465-8",
"sameAs": [
"https://app.dimensions.ai/details/publication/pub.1090295079",
"https://doi.org/10.1007/s00432-017-2465-8"
],
"type": "CreativeWork"
},
{
"id": "sg:pub.10.1038/s41591-018-0009-7",
"sameAs": [
"https://app.dimensions.ai/details/publication/pub.1103690668",
"https://doi.org/10.1038/s41591-018-0009-7"
],
"type": "CreativeWork"
},
{
"id": "sg:pub.10.1038/nrg3317",
"sameAs": [
"https://app.dimensions.ai/details/publication/pub.1013331797",
"https://doi.org/10.1038/nrg3317"
],
"type": "CreativeWork"
},
{
"id": "sg:pub.10.1038/nrclinonc.2016.66",
"sameAs": [
"https://app.dimensions.ai/details/publication/pub.1011587927",
"https://doi.org/10.1038/nrclinonc.2016.66"
],
"type": "CreativeWork"
},
{
"id": "sg:pub.10.1038/gim.2015.30",
"sameAs": [
"https://app.dimensions.ai/details/publication/pub.1022229472",
"https://doi.org/10.1038/gim.2015.30"
],
"type": "CreativeWork"
}
],
"datePublished": "2021-07-13",
"datePublishedReg": "2021-07-13",
"description": "PurposeBRCA1/2 screening for all triple-negative breast cancer (TNBC) patients younger than 60\u00a0years may still be an economic burden in China. Further evidences that include incidence and outcome of BRCA1/2 pathogenic variants (PV) screened based on younger age or family history (FH) are worth discussing for improving the cost-effectiveness of BRCA1/2 testing in Chinese TNBC. We aimed to investigate the prevalence of germline and tumor BRCA1/2 PV based on age screening in Chinese TNBC patients.MethodsPaired blood and tumor DNA from 124 unselected Chinese TNBC patients with less than or equal to 55\u00a0years were collected and analyzed for BRCA1/2 PV. Clinicopathological characteristics including age at diagnosis, FH and follow-up data were collected for further analysis.ResultsThe entire frequency of germline and tumor BRCA1/2 PV was 21.0 and 25%, respectively. Among them, 20 (16.1%) germline and 5 (4.0%) somatic BRCA1/2 single-nucleotide variant/insertion/deletions were found by NGS testing, 6 (4.8%) BRCA1 large genomic rearrangements were detected in blood DNA by MPLA. There was significant correlation between FH of HBOC and germline BRCA1/2 PVs among these patients. Patients with tumor BRCA1/2 PVs had significant improvements than non-carriers in PFS (p\u2009=\u20090.047). No significant impacts were found between various mutation status in OS outcomes. No significant differences were found between BRCA1 or BRCA2 and non-carriers in PFS or OS.ConclusionThere is a high incidence of germline and tumor BRCA1/2 PVs in Chinese TNBC patients with less than or equal to 55\u00a0years old. Tumor BRCA1/2 PV carriers showed an improved survival outcome. Our results suggest that BRCA1/2 PVs testing addressed within each specific clinical scenario could be more cost-effective for patients.",
"genre": "article",
"id": "sg:pub.10.1007/s00432-021-03696-2",
"inLanguage": "en",
"isAccessibleForFree": true,
"isPartOf": [
{
"id": "sg:journal.1313647",
"issn": [
"0171-5216",
"1432-1335"
],
"name": "Journal of Cancer Research and Clinical Oncology",
"publisher": "Springer Nature",
"type": "Periodical"
},
{
"issueNumber": "10",
"type": "PublicationIssue"
},
{
"type": "PublicationVolume",
"volumeNumber": "147"
}
],
"keywords": [
"BRCA1/2 pathogenic variants",
"family history",
"TNBC patients",
"pathogenic variants",
"triple-negative breast cancer patients",
"triple-negative breast carcinoma",
"prevalence of germline",
"improved survival outcomes",
"breast cancer patients",
"specific clinical scenarios",
"germline BRCA1/2",
"BRCA1 large genomic rearrangements",
"clinicopathological characteristics",
"PV carriers",
"OS outcomes",
"survival outcomes",
"cancer patients",
"breast carcinoma",
"high incidence",
"patients",
"economic burden",
"mutation status",
"NGS testing",
"clinical scenarios",
"BRCA1/2 testing",
"younger age",
"tumor DNA",
"blood DNA",
"significant differences",
"significant correlation",
"large genomic rearrangements",
"PFS",
"outcomes",
"age",
"incidence",
"significant improvement",
"further evidence",
"years",
"carcinoma",
"TNBC",
"ConclusionThere",
"prevalence",
"HBOC",
"BRCA1/2",
"testing",
"blood",
"diagnosis",
"germline",
"MPLA",
"BRCA2",
"insertions/deletions",
"burden",
"Further analysis",
"variants",
"BRCA1",
"status",
"OS",
"genomic rearrangements",
"DNA",
"evidence",
"significant impact",
"deletion",
"differences",
"history",
"correlation",
"improvement",
"frequency",
"PV testing",
"data",
"carriers",
"impact",
"analysis",
"results",
"characteristics",
"rearrangement",
"China",
"entire frequency",
"scenarios"
],
"name": "Germline and tumor BRCA1/2 pathogenic variants in Chinese triple-negative breast carcinomas",
"pagination": "2935-2944",
"productId": [
{
"name": "dimensions_id",
"type": "PropertyValue",
"value": [
"pub.1139631987"
]
},
{
"name": "doi",
"type": "PropertyValue",
"value": [
"10.1007/s00432-021-03696-2"
]
},
{
"name": "pubmed_id",
"type": "PropertyValue",
"value": [
"34254208"
]
}
],
"sameAs": [
"https://doi.org/10.1007/s00432-021-03696-2",
"https://app.dimensions.ai/details/publication/pub.1139631987"
],
"sdDataset": "articles",
"sdDatePublished": "2022-05-20T07:38",
"sdLicense": "https://scigraph.springernature.com/explorer/license/",
"sdPublisher": {
"name": "Springer Nature - SN SciGraph project",
"type": "Organization"
},
"sdSource": "s3://com-springernature-scigraph/baseset/20220519/entities/gbq_results/article/article_891.jsonl",
"type": "ScholarlyArticle",
"url": "https://doi.org/10.1007/s00432-021-03696-2"
}
]Download the RDF metadata as: json-ld nt turtle xml License info
JSON-LD is a popular format for linked data which is fully compatible with JSON.
curl -H 'Accept: application/ld+json' 'https://scigraph.springernature.com/pub.10.1007/s00432-021-03696-2'
N-Triples is a line-based linked data format ideal for batch operations.
curl -H 'Accept: application/n-triples' 'https://scigraph.springernature.com/pub.10.1007/s00432-021-03696-2'
Turtle is a human-readable linked data format.
curl -H 'Accept: text/turtle' 'https://scigraph.springernature.com/pub.10.1007/s00432-021-03696-2'
RDF/XML is a standard XML format for linked data.
curl -H 'Accept: application/rdf+xml' 'https://scigraph.springernature.com/pub.10.1007/s00432-021-03696-2'
This table displays all metadata directly associated to this object as RDF triples.
290 TRIPLES
22 PREDICATES
127 URIs
114 LITERALS
25 BLANK NODES