ArticleGastroenterology2017
Germline Mutations in PALB2, BRCA1, and RAD51C, Which Regulate DNA Recombination Repair, in Patients With Gastric Cancer.
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Article in Gastroenterology, 2017. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 80 papers, 2 of them syntheses that pooled it.
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80citing papers in PubMed, 2 pooled it
6.9field-weighted citation impact, top 2% of its field
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Who cites it
80 citing papers in PubMed, 2 syntheses or guidelines pooled it, 128 citations in OpenAlex.
- A Systematic Literature Review of Whole Exome and Genome Sequencing Population Studies of Genetic Susceptibility to Cancer.Cancer epidemiology, biomarkers & prevention : a publication of the American Association for Cancer Research, cosponsored by the American Society of Preventive Oncology · 2020Pooled it
- Hereditary diffuse gastric cancer: updated clinical practice guidelines.The Lancet. Oncology · 2020Guideline
- Hereditary gastric cancer checks its balance at the ATM: Broadening risk beyond CDH1.European journal of human genetics : EJHG · 2026Article
- PAK1 inhibition synergistically enhances the anti-tumor efficacy of PARP inhibitors in ovarian cancers.Genes & diseases · 2026Article
- The Changing Landscape of Hereditary Diffuse Gastric Cancer.Journal of gastric cancer · 2026Review
- Case Report:Frontiers in oncology · 2026Article
- A comprehensive review of immunotherapy in gastrointestinal tumors with a focus on the role of combination therapy with PARP inhibitors.Naunyn-Schmiedeberg's archives of pharmacology · 2025Review
- The role of multi-organ cancer predisposition genes in the risk of inherited and histologically diverse gastric cancer.EBioMedicine · 2025Article
- Genetic Features of Tumours Arising in the Context of Suspected Hereditary Cancer Syndromes withGenes · 2025Article
- Hereditary diffuse gastric cancer: the evolution of a cancer syndrome.Journal of the Royal Society of New Zealand · 2025Review
- Challenging the extended phenotype: HRD-negative salivary gland carcinoma in aFrontiers in oncology · 2025Article
- Article
- CTNND1 is involved in germline predisposition to early-onset gastric cancer by affecting cell-to-cell interactions.Gastric cancer : official journal of the International Gastric Cancer Association and the Japanese Gastric Cancer Association · 2024Article
- HBV promotes its replication by up-regulating RAD51C gene expression.Scientific reports · 2024Article
- The macrophage-associated prognostic gene ANXA5 promotes immunotherapy resistance in gastric cancer through angiogenesis.BMC cancer · 2024Article
- Review
- Profiling of the genetic features of Chinese patients with gastric cancer with HRD germline mutations in a large-scale retrospective study.Journal of medical genetics · 2023Article
- Hereditary Gastric Cancer: Single-Gene or Multigene Panel Testing? A Mono-Institutional Experience.Genes · 2023Article
- Review
- Cancer Progress and Priorities: Gastric Cancer.Cancer epidemiology, biomarkers & prevention : a publication of the American Association for Cancer Research, cosponsored by the American Society of Preventive Oncology · 2023Article
20 more citing papers are in PubMed but not listed here.
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Authors and funding
36 authors at 16 institutions in 10 countries.
Ruta SahasrabudheGenome Center and Department of Biochemistry and Molecular Medicine, School of Medicine, University of California, Davis, California.
Paul LottGenome Center and Department of Biochemistry and Molecular Medicine, School of Medicine, University of California, Davis, California.
Mabel BohorquezGrupo de Citogenética, Filogenia y Evolución de Poblaciones, Facultades de Ciencias y Facultad de Ciencias de la Salud, Universidad del Tolima, Ibagué, Colombia.
Ted ToalGenome Center and Department of Biochemistry and Molecular Medicine, School of Medicine, University of California, Davis, California.
Ana P EstradaGrupo de Citogenética, Filogenia y Evolución de Poblaciones, Facultades de Ciencias y Facultad de Ciencias de la Salud, Universidad del Tolima, Ibagué, Colombia.
John J SuarezGrupo de Citogenética, Filogenia y Evolución de Poblaciones, Facultades de Ciencias y Facultad de Ciencias de la Salud, Universidad del Tolima, Ibagué, Colombia.
Alejandro Brea-FernándezFundación Pública Galega de Medicina Xenómica (FPGMX)-SERGAS, Grupo de Medicina Xenómica-USC, Instituto de Investigación Sanitaria de Santiago (IDIS), Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER), 15706 Santiago de Compostela, Galicia, Spain.
José Cameselle-TeijeiroServicio de Anatomía Patológica, Hospital Clínico, Santiago de Compostela, Spain.
Carla PintoDepartment of Genetics, Portuguese Oncology Institute of Porto, Porto, Portugal.
Irma RamosUnidad de Investigación en Enfermedades Infecciosas, UMAE Pediatría, Instituto Mexicano del Seguro Social; Mexico City, Mexico.
Alejandra MantillaDepartamento de Patologia, La Unidad Medica Alta Especialidad Oncologia, Mexico City, Mexico.
Rodrigo PrietoGrupo de Citogenética, Filogenia y Evolución de Poblaciones, Facultades de Ciencias y Facultad de Ciencias de la Salud, Universidad del Tolima, Ibagué, Colombia.
Alejandro CorvalanAdvanced Center for Chronic Diseases (ACCDiS), Facultad de Medicina, Pontificia Universidad Católica de Chile, Santiago, Chile.
Enrique NoreroAdvanced Center for Chronic Diseases (ACCDiS), Facultad de Medicina, Pontificia Universidad Católica de Chile, Santiago, Chile.
Carolina AlvarezDepartamento de Biología Celular y Molecular, Facultad de Ciencias Biológicas, Pontificia Universidad Católica de Chile, Santiago, Chile.
Teresa TapiaDepartamento de Biología Celular y Molecular, Facultad de Ciencias Biológicas, Pontificia Universidad Católica de Chile, Santiago, Chile.
Pilar CarvalloDepartamento de Biología Celular y Molecular, Facultad de Ciencias Biológicas, Pontificia Universidad Católica de Chile, Santiago, Chile.
Luz M GonzalezUniversidad de Antioquia and Instituto de Cancerología Las Américas, Medellin, Colombia.
Alicia Cock-RadaUniversidad de Antioquia and Instituto de Cancerología Las Américas, Medellin, Colombia.
Angela SolanoInstituto de Investigaciones Bioquímicas, Universidad de Buenos Aires/Consejo Nacional de Investigaciones Científicas y Técnicas y El Centro de Educación Médica e Investigaciones Clínicas Norberto Quirno, Buenos Aires, Argentina.
Florencia NeffaLaboratorio Genia, Montevideo, Uruguay.
Adriana Della ValleLaboratorio Genia, Montevideo, Uruguay.
Chris YauWellcome Trust Centre for Human Genetics, University of Oxford, Oxford, United Kingdom.
Gabriela SoaresCentro de Genética Médica Dr Jacinto Magalhães, Centro Hospitalar do Porto, Porto, Portugal.
Alexander BorowskyDepartment of Pathology, School of Medicine, University of California, Davis, California.
Nan HuDivision of Cancer Epidemiology and Genetics, National Cancer Institute, National Institutes of Health, Bethesda, Maryland.
Li-Ji HeYangcheng Cancer Hospital, Yangcheng, Shanxi, PR China.
Xiao-You HanShanxi Cancer Hospital, Taiyuan, Shanxi, PR China.
Latin American Gastric Cancer Genetics Collaborative Group
Philip R TaylorDivision of Cancer Epidemiology and Genetics, National Cancer Institute, National Institutes of Health, Bethesda, Maryland.
Alisa M GoldsteinDivision of Cancer Epidemiology and Genetics, National Cancer Institute, National Institutes of Health, Bethesda, Maryland.
Javier TorresUnidad de Investigación en Enfermedades Infecciosas, UMAE Pediatría, Instituto Mexicano del Seguro Social; Mexico City, Mexico.
Magdalena EcheverryGrupo de Citogenética, Filogenia y Evolución de Poblaciones, Facultades de Ciencias y Facultad de Ciencias de la Salud, Universidad del Tolima, Ibagué, Colombia.
Clara Ruiz-PonteFundación Pública Galega de Medicina Xenómica (FPGMX)-SERGAS, Grupo de Medicina Xenómica-USC, Instituto de Investigación Sanitaria de Santiago (IDIS), Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER), 15706 Santiago de Compostela, Galicia, Spain.
Manuel R TeixeiraDepartment of Genetics, Portuguese Oncology Institute of Porto, Porto, Portugal; Institute of Biomedical Sciences, University of Porto, Porto, Portugal.
Luis G Carvajal-CarmonaGenome Center and Department of Biochemistry and Molecular Medicine, School of Medicine, University of California, Davis, California; Fundación de Genómica y Genética Molecular, Colombia. Electronic address: lgcarvajal@ucdavis.edu.
Pontificia Universidad Católica de Chile · CLUniversity of California, Davis · USUniversity of Tolima · CONational Institutes of Health · USMexican Social Security Institute · MXCentro de Investigación Biomédica en Red · ESCentro Uruguayo de Imagenología Molecular · UYUniversidad de Antioquia · COCentre for Human Genetics · GBCentro Hospitalar do Porto · PTComplejo Hospitalario Universitario de Santiago · ESConsejo Nacional de Investigaciones Científicas y Técnicas · ARInstituto Português de Oncologia Francisco Gentil · PTShanxi Provincial Cancer Hospital · CNUniversidade do Porto · PTYancheng Second People's Hospital · CN
Funding
Staff InvestigatorsP30CA093373 · NCI · UNIVERSITY OF CALIFORNIA DAVIS · PI Laura Marcu · 2002 to 2026
$84.9MGRADUATE TRAINING IN CELLULAR &MOLECULAR PHARMACOLOGYT32GM007752 · NIGMS · UNIVERSITY OF CALIFORNIA, SAN DIEGO · PI BROWN, JOAN HELLER, HANDEL, TRACY M · 1985 to 2023
$13.5MUC Davis Paul Calabresi K12 Clinical Oncology Research Career Development ProgramK12CA138464 · NCI · UNIVERSITY OF CALIFORNIA AT DAVIS · PI BIRKELAND, ANDREW CHARLES, LARA, PRIMO N. · 2011 to 2025
$11.4MEsophageal cancer genetic projectZIACP010224 · NCI · DIVISION OF CANCER EPIDEMIOLOGY AND GENETICS · PI GOLDSTEIN, ALISA · 2012 to 2025
$7.3MDissecting gastric cancer clonality with genomic analyses and patient xenograftsR21CA199631 · NCI · UNIVERSITY OF CALIFORNIA AT DAVIS · PI CARVAJAL CARMONA, LUIS GUILLERMO · 2016 to 2017
$376kNCI NIH HHS K12 CA138464NCI NIH HHS P30 CA093373NCI NIH HHS R21 CA199631NIGMS NIH HHS T32 GM007752
Abstract
Up to 10% of cases of gastric cancer are familial, but so far, only mutations in CDH1 have been associated with gastric cancer risk. To identify genetic variants that affect risk for gastric cancer, we collected blood samples from 28 patients with hereditary diffuse gastric cancer (HDGC) not associated with mutations in CDH1 and performed whole-exome sequence analysis. We then analyzed sequences of candidate genes in 333 independent HDGC and non-HDGC cases. We identified 11 cases with mutations in PALB2, BRCA1, or RAD51C genes, which regulate homologous DNA recombination. We found these mutations in 2 of 31 patients with HDGC (6.5%) and 9 of 331 patients with sporadic gastric cancer (2.8%). Most of these mutations had been previously associated with other types of tumors and partially co-segregated with gastric cancer in our study. Tumors that developed in patients with these mutations had a mutation signature associated with somatic homologous recombination deficiency. Our findings indicate that defects in homologous recombination increase risk for gastric cancer.
Indexed as
AgedAged, 80 and overBRCA1 ProteinDNA-Binding ProteinsFanconi Anemia Complementation Group N ProteinFemaleGenetic Predisposition to DiseaseGerm-Line MutationHumansMaleMiddle AgedMutationNuclear ProteinsRecombinational DNA RepairStomach NeoplasmsTumor Suppressor ProteinsBRCA1 ProteinBRCA1 protein, humanDNA-Binding ProteinsFanconi Anemia Complementation Group N ProteinNuclear ProteinsPALB2 protein, humanRAD51C protein, humanTumor Suppressor ProteinsInteractionStomachTumorWES
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