ArticleNPJ breast cancer2017
The contribution of pathogenic variants in breast cancer susceptibility genes to familial breast cancer risk.
Erratum issuedOpen access · goldAbstract read
In one paragraph
Article in NPJ breast cancer, 2017. The graph could read no effect estimate from its abstract, so it casts no vote on the map. An erratum has been issued. Cited by 78 papers, 1 of them a synthesis that pooled it.
0numbers the graph read from it
0cells of the map it votes in
78citing papers in PubMed, 1 pooled it
14.3field-weighted citation impact, top 1% of its field
What it found
Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.
The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
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Who cites it
78 citing papers in PubMed, 1 synthesis or guideline pooled it, 136 citations in OpenAlex.
- Summary ofGenes · 2020Pooled it
- Moderate-risk variants in hereditary breast and ovarian cancer: seven-year experience from a specialized center.Familial cancer · 2026Article
- Clinical Characteristics and Use of Poly-4-Hydroxybutyrate Scaffold (GalaFLEX™) in Primary and Secondary Implant-Based Breast Reconstruction: A Structured Review of the Literature and Preliminary Single-Center Experience.Aesthetic plastic surgery · 2026Article
- Co-occurring rare germline DNA repair gene variants in BRCA1/BRCA2 implicated hereditary breast cancer families.NPJ breast cancer · 2026Article
- Multimodal analysis of a rare BARD1 missense variant suggests its pathogenicity is conditional.NPJ breast cancer · 2026Article
- Variant reclassification in cancer susceptibility genes and an updated variant spectrum of Turkish breast and colorectal cancer patients.Human genomics · 2026Article
- Genetic tumor syndromes in female cancer: insights into inherited cancer predisposition and clinical implications.Archives of gynecology and obstetrics · 2026Review
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- Germline Variants in the Immune Response-Related Genes: Possible Modifying Effect on Age-DependentCancers · 2025Article
- GermlineCancers · 2025Article
- High prevalence of constitutional BRCA1 epimutation in patients with early-onset triple-negative breast cancer.Clinical epigenetics · 2025Article
- Psychological distress following multi-gene panel testing for hereditary breast and ovarian cancer risk.Journal of genetic counseling · 2025Article
- [Pathogenic large duplication in TP53 as a hereditary predisposing factor in breast cancer].Magyar onkologia · 2025Article
- Uptake of Risk-Reducing Surgeries in an International Real-World Cohort of Hispanic Women.JCO global oncology · 2024Article
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- PALB2-mutated human mammary cells display a broad spectrum of morphological and functional abnormalities induced by increased TGFβ signaling.Cellular and molecular life sciences : CMLS · 2024Article
- Cost-Effectiveness of Population-Based Multigene Testing for Breast and Ovarian Cancer Prevention.JAMA network open · 2024Article
- Breast cancers in monoallelic MUTYH germline mutation carriers have clinicopathological features overlapping with those in BRCA1 germline mutation carriers.Breast cancer research and treatment · 2024Article
- Molecular genetic investigation of hereditary breast and ovarian cancer patients in the Southern Transdanubian region: widening the mutation spectrum and searching for new pathogenic variants using next-generation methods.Pathology oncology research : POR · 2024Article
- A primary luminal/HER2 negative breast cancer patient with mismatch repair deficiency.Cell death discovery · 2023Article
18 more citing papers are in PubMed but not listed here.
Corrections and comments
- Erratum issued
Authors and funding
27 authors at 13 institutions in 3 countries.
Thomas P Slavin *Department of Medical Oncology, Division of Clinical Cancer Genetics, City of Hope, Duarte, CA USA.
Kara N Maxwell *Department of Medicine, Division of Hematology-Oncology, Perelman School of Medicine University of Pennsylvania, Philadelphia, PA USA.
Jenna Lilyquist *Department of Health Sciences Research, Mayo Clinic, Rochester, MN USA.
Joseph Vijai *Clinical Genetics Research Lab, Department of Medicine & Department of Cancer Biology and Genetics, Memorial Sloan Kettering Cancer Center, New York, NY USA.
Susan L NeuhausenDepartment of Population Sciences, Beckman Research Institute of City of Hope, Duarte, CA USA.
Steven N HartDepartment of Health Sciences Research, Mayo Clinic, Rochester, MN USA.
Vignesh RavichandranClinical Genetics Research Lab, Department of Medicine & Department of Cancer Biology and Genetics, Memorial Sloan Kettering Cancer Center, New York, NY USA.
Tinu ThomasClinical Genetics Research Lab, Department of Medicine & Department of Cancer Biology and Genetics, Memorial Sloan Kettering Cancer Center, New York, NY USA.
Ann MariaClinical Genetics Research Lab, Department of Medicine & Department of Cancer Biology and Genetics, Memorial Sloan Kettering Cancer Center, New York, NY USA.
Danylo VillanoClinical Genetics Research Lab, Department of Medicine & Department of Cancer Biology and Genetics, Memorial Sloan Kettering Cancer Center, New York, NY USA.
Kasmintan A SchraderDepartment of Molecular Oncology, British Columbia Cancer Agency, Vancouver, BC Canada.
Raymond MooreDepartment of Health Sciences Research, Mayo Clinic, Rochester, MN USA.
Chunling HuDepartment of Health Sciences Research, Mayo Clinic, Rochester, MN USA.
Bradley WubbenhorstDepartment of Medicine, Division of Translational Medicine and Genetics, Perelman School of Medicine at the University of Pennsylvania, Philadelphia, PA USA.
Brandon M WenzDepartment of Medicine, Division of Translational Medicine and Genetics, Perelman School of Medicine at the University of Pennsylvania, Philadelphia, PA USA.
Kurt D'AndreaDepartment of Medicine, Division of Translational Medicine and Genetics, Perelman School of Medicine at the University of Pennsylvania, Philadelphia, PA USA.
Mark E RobsonClinical Genetics Service, Department of Medicine, Memorial Sloan Kettering Cancer Center, New York, NY USA.
Paolo PeterlongoIFOM, the FIRC Institute of Molecular Oncology, Milan, Italy.
Bernardo BonanniDivision of Cancer Prevention and Genetics, European Institute of Oncology, Milan, Italy.
James M FordDivision of Oncology, Stanford University School of Medicine, Stanford, CA USA.
Judy E GarberCenter for Cancer Genetics and Prevention, Dana Farber Cancer Institute, Boston, MA USA.
Susan M DomchekDepartment of Medicine, Division of Hematology-Oncology, Perelman School of Medicine University of Pennsylvania, Philadelphia, PA USA.
Csilla SzaboNational Institutes of Health, Bethesda, MD USA.
Kenneth Offit *Clinical Genetics Service, Department of Medicine, Memorial Sloan Kettering Cancer Center, New York, NY USA.
Katherine L Nathanson *Abramson Cancer Center, Perelman School of Medicine at the University of Pennsylvania, Philadelphia, PA USA.
Jeffrey N WeitzelDepartment of Medical Oncology, Division of Clinical Cancer Genetics, City of Hope, Duarte, CA USA.
Fergus J Couch *Department of Health Sciences Research, Mayo Clinic, Rochester, MN USA.
Memorial Sloan Kettering Cancer Center · USUniversity of Pennsylvania · USMayo Clinic in Florida · USBeckman Research InstituteBC Cancer Agency · CACancer Genetics (United States) · USCity of Hope · USEuropean Institute of Oncology · ITFIRC Institute of Molecular Oncology · ITMayo Clinic in Arizona · USNational Institutes of Health · USStanford University · USTranslational Therapeutics (United States) · US
Funding
X-RAY CRYSTALLOGRAPHYP30CA008748 · NCI · SLOAN-KETTERING INSTITUTE FOR CANCER RES · PI Elisa de Stanchina · 1985 to 2026
$347.4MUNIVERSITY OF PENNSYLVANIA CAN CTR SUPPORT GRANTP30CA016520 · NCI · UNIVERSITY OF PENNSYLVANIA · PI Susan M Domchek · 1985 to 2026
$222.3MThe Role of CHFR in Tumorigenesis and Paclitaxel-Sensitivity in Breast CancerP50CA116201 · NCI · MAYO CLINIC ROCHESTER · PI PETER C LUCAS · 2005 to 2026
$49.9MRisk and penetrance of mutations from breast cancer testing panels.R01CA192393 · NCI · MAYO CLINIC ROCHESTER · PI COUCH, FERGUS JOSEPH, NATHANSON, KATHERINE L. · 2014 to 2018
$6.3MMayo Cancer Genetic Epidemiology Training ProgramR25CA092049 · NCI · MAYO CLINIC ROCHESTER · PI PETERSEN, GLORIA M., VACHON, CELINE M · 2001 to 2018
$5.3MIdentifying and validating novel susceptibility genes for breast cancerR01CA176785 · NCI · MAYO CLINIC ROCHESTER · PI COUCH, FERGUS JOSEPH, NATHANSON, KATHERINE L. · 2014 to 2018
$3.4MBRCA2 missense mutations and breast cancerR01CA116167 · NCI · MAYO CLINIC ROCHESTER · PI COUCH, FERGUS JOSEPH · 2007 to 2011
$3.0MBRCA1 and BRCA2 missense mutations and breast cancer riskU01CA116167 · NCI · MAYO CLINIC ROCHESTER · PI COUCH, FERGUS JOSEPH · 2013 to 2017
$2.7MClinical Cancer Genetics Community Network: A Sustainable Research PartnershipRC4CA153828 · NCI · BECKMAN RESEARCH INSTITUTE/CITY OF HOPE · PI WEITZEL, JEFFREY N · 2010 to 2010
$1.0MGermline Susceptibility in Double Primary Cancers via Nexy-Generation SequencingR21CA178800 · NCI · SLOAN-KETTERING INST CAN RESEARCH · PI JOSEPH, VIJAI, STADLER, ZSOFIA KINGA · 2014 to 2015
$420kNCI NIH HHS P30 CA008748NCI NIH HHS P30 CA016520NCI NIH HHS P50 CA116201NCI NIH HHS R01 CA116167NCI NIH HHS R01 CA176785NCI NIH HHS R01 CA192393NCI NIH HHS R21 CA178800NCI NIH HHS R25 CA092049NCI NIH HHS RC4 CA153828NCI NIH HHS U01 CA116167
Abstract
Understanding the gene-specific risks for development of breast cancer will lead to improved clinical care for those carrying germline mutations in cancer predisposition genes. We sought to detail the spectrum of mutations and refine risk estimates for known and proposed breast cancer susceptibility genes. Targeted massively-parallel sequencing was performed to identify mutations and copy number variants in 26 known or proposed breast cancer susceptibility genes in 2134
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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.