Research map: BARD1 and breast cancer genetic predisposition: case–control study and HRD signature analysis

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  1. Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology · Sue M. Richards · 2015 · 33500 citations · Cited by this paper
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  13. BRCA locus-specific loss of heterozygosity in germline BRCA1 and BRCA2 carriers · Kara N. Maxwell · 2017 · 319 citations · Cited by this paper
  14. Limits of substitution and context-dependent selective omission of Oncotype DX recurrence score testing · 2026 · Related
  15. Mutations in the BRCA1-associated RING domain (BARD1) gene in primary breast, ovarian and uterine cancers · T. Thai · 1998 · 187 citations · Cited by this paper
  16. Breast ultrasound screening in young adult women undergoing infertility treatment at an infertility clinic: a retrospective observational study · 2026 · Related
  17. Association of Breast and Ovarian Cancers With Predisposition Genes Identified by Large-Scale Sequencing · Hsiao‐Mei Lu · 2018 · 183 citations · Cited by this paper
  18. Minimal important differences of EORTC QLQ-C30 and QLQ-BR23 for metastatic breast cancer patients in a Japanese population: results from the RESQ trial · 2026 · Related
  19. Isomerization of BRCA1–BARD1 promotes replication fork protection · Manuel Daza-Martín · 2019 · 134 citations · Cited by this paper
  20. The context-specific role of germline pathogenicity in tumorigenesis · Preethi Srinivasan · 2021 · 111 citations · Cited by this paper
  21. SPiP: Splicing Prediction Pipeline, a machine learning tool for massive detection of exonic and intronic variant effects on mRNA splicing · Raphaël Leman · 2022 · 105 citations · Cited by this paper
  22. Pathogenesis and Consequences of Uniparental Disomy in Cancer · Hideki Makishima · 2011 · 99 citations · Cited by this paper
  23. Genomic hallmarks of homologous recombination deficiency in invasive breast carcinomas · Élodie Manié · 2015 · 83 citations · Cited by this paper
  24. ShallowHRD: detection of homologous recombination deficiency from shallow whole genome sequencing · Alexandre Eeckhoutte · 2020 · 78 citations · Cited by this paper
  25. Landscape of pathogenic variations in a panel of 34 genes and cancer risk estimation from 5131 HBOC families · Laurent Castéra · 2018 · 77 citations · Cited by this paper
  26. Enhancing the BOADICEA cancer risk prediction model to incorporate new data on RAD51C , RAD51D , BARD1 updates to tumour pathology and cancer incidence · Andrew Lee · 2022 · 73 citations · Cited by this paper
  27. Exome sequencing identifies breast cancer susceptibility genes and defines the contribution of coding variants to breast cancer risk · Naomi Wilcox · 2023 · 68 citations · Cited by this paper
  28. Germline loss-of-function variants in the BARD1 gene are associated with early-onset familial breast cancer but not ovarian cancer · Nana Weber‐Lassalle · 2019 · 66 citations · Cited by this paper
  29. KIBRA (WWC1) Is a Metastasis Suppressor Gene Affected by Chromosome 5q Loss in Triple-Negative Breast Cancer · Jennifer F. Knight · 2018 · 60 citations · Cited by this paper
  30. Recommandations françaises du Groupe Génétique et Cancer pour l’analyse en panel de gènes dans les prédispositions héréditaires au cancer du sein ou de l’ovaire · Jessica Moretta · 2018 · 60 citations · Cited by this paper
  31. Homologous recombination deficiency derived from whole-genome sequencing predicts platinum response in triple-negative breast cancers · Petra ter Brugge · 2023 · 46 citations · Cited by this paper
  32. Summary of BARD1 Mutations and Precise Estimation of Breast and Ovarian Cancer Risks Associated with the Mutations · Malwina Suszyńska · 2020 · 29 citations · Cited by this paper
  33. BARD1 homozygous deletion, a possible alternative to BRCA1 mutation in basal breast cancer · Renaud Sabatier · 2010 · 28 citations · Cited by this paper
  34. A synergetic effect of BARD1 mutations on tumorigenesis · Wenjing Li · 2021 · 27 citations · Cited by this paper
  35. BARD1germline variants induce haploinsufficiency and DNA repair defects in neuroblastoma · Michael P. Randall · 2023 · 26 citations · Cited by this paper
  36. Association between Acquired Uniparental Disomy and Homozygous Mutations and HER2/ER/PR Status in Breast Cancer · Musaffe Tuna · 2010 · 22 citations · Cited by this paper
  37. BARD1 Pathogenic Variants Are Associated with Triple-Negative Breast Cancer in a Spanish Hereditary Breast and Ovarian Cancer Cohort · Paula Rofes · 2021 · 17 citations · Cited by this paper
  38. Functional analysis of clinical BARD1 germline variants · Ming Ren Toh · 2019 · 12 citations · Cited by this paper
  39. Response to PARP Inhibition in BARD1 -Mutated Refractory Neuroblastoma · Margaret Cupit-Link · 2024 · 12 citations · Cited by this paper

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