Varaico: Literature-Extracted Genetic Variants

Gene:FANCM
Variant:p.D55N
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FANCM

NM_020937.4:p.D55N

Associated Papers

Comprehensive Genomic Profiling Alters Clinical Diagnoses in a Significant Fraction of Tumors Suspicious of Sarcoma.

Öfverholm I et al.

Clinical Cancer Research : an Official Journal of the American Association for Cancer Research, 2024

38573684 (PubMed )
Supplement: ccr-24-0384_supplementary_data_6_suppts6.xlsx › Sheet1

The evolutionary impact of childhood cancer on the human gene pool.

Stoltze UK et al.

Nature Communications, 2024

38424437 (PubMed )
Supplement: 41467_2024_45975_MOESM4_ESM.xlsx › Supplementary_Data_5

Genomic analyses of germline and somatic variation in high-grade serous ovarian cancer.

Adamson AW et al.

Journal of Ovarian Research, 2023

37460928 (PubMed )
Supplement: 13048_2023_1234_MOESM2_ESM.xlsx › Table_S10__

FANCM missense variants and breast cancer risk: a case-control association study of 75,156 European women.

Figlioli G et al.

European Journal of Human Genetics : Ejhg, 2023

36707629 (PubMed )
Supplement: 41431_2022_1257_MOESM2_ESM.xlsx › ST2

Somatic inactivation of breast cancer predisposition genes in tumors associated with pathogenic germline variants.

Lim BWX et al.

Journal of the National Cancer Institute, 2023

Pathogenic Variant Spectrum in Breast Cancer Risk Genes in Finnish Patients.

Nurmi AK et al.

Cancers, 2022

36551643 (PubMed )
Supplement: cancers-14-06158-s001.zip › cancers-2052010-supplementary.pdf

Tumor sequencing is useful to refine the analysis of germline variants in unexplained high-risk breast cancer families.

Van Marcke C et al.

Breast Cancer Research : Bcr, 2020

32295625 (PubMed )
Supplement: 13058_2020_1273_MOESM1_ESM.xlsx › Table_S2

Exploring the Role of Mutations in Fanconi Anemia Genes in Hereditary Cancer Patients.

Del Valle J et al.

Cancers, 2020

32235514 (PubMed )
Supplement: cancers-12-00829-s001.zip › cancers-727310-supplementary › Table_S3.xlsx › Supplementary_Table_3

Characterization of tumor mutation burden, PD-L1 and DNA repair genes to assess relationship to immune checkpoint inhibitors response in metastatic renal cell carcinoma.

Labriola MK et al.

Journal for Immunotherapy of Cancer, 2020

32221016 (PubMed )
Supplement: jitc-2019-000319supp001.xlsx › Supp_Table_1

TAPES: A tool for assessment and prioritisation in exome studies.

Xavier A et al.

Plos Computational Biology, 2019

31613886 (PubMed )
Supplement: pcbi.1007453.s002.xlsx › SoftVsPanel

CharGer: clinical Characterization of Germline variants.

Scott AD et al.

Bioinformatics (oxford, England), 2019

30102335 (PubMed )
Supplement: bioinformatics_35_5_865_s4.xlsx › SupplTable2

Germline mutations in candidate predisposition genes in individuals with cutaneous melanoma and at least two independent additional primary cancers.

Pritchard AL et al.

Plos One, 2018

29641532 (PubMed )
Supplement: pone.0194098.s003.xlsx › UK10K_AR

Enrichment of Targetable Mutations in the Relapsed Neuroblastoma Genome.

Padovan-Merhar OM et al.

Plos Genetics, 2016

27997549 (PubMed )
Supplement: pgen.1006501.s002.xlsx › Sheet1
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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."