Varaico: Literature-Extracted Genetic Variants

Gene:FANCM
Variant:p.R658*
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FANCM

NM_020937.4:p.R658*

Associated Papers

Complex Relationships Between Homologous Recombination Deficiency (HRD) Score and Mutational Status of Homologous Recombination Repair (HRR) Genes in Prostate Carcinomas.

Iyevleva AG et al.

International Journal of Molecular Sciences, 2025

Large-scale meta-analysis and precision functional assays identify FANCM regions in which PTVs confer different risks for ER-negative and triple-negative breast cancer.

Billaud A et al.

Breast (edinburgh, Scotland), 2025

Genetic Testing for Monogenic Forms of Male Infertility Contributes to the Clinical Diagnosis of Men with Severe Idiopathic Male Infertility.

Podgrajsek R et al.

The World Journal of Men's Health, 2025

39843174 (PubMed )
Supplement: wjmh-43-908-s002.pdf

Recessive FANCM cancer syndrome with high cancer risks, chemotherapy toxicity, chromosome fragility, and gonadal failure.

Nynäs E et al.

Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2025

Summarizing the human genes and their variants causative of non-obstructive azoospermia uncovered using whole genome/exome sequencing.

Ibrahim R et al.

Reproductive Biology, 2025

Exploring germline variants in genes associated with inborn errors of immunity and inherited bone marrow failure syndromes in pediatric hematological malignancies.

Bakhuizen JJ et al.

European Journal of Cancer (oxford, England : 1990), 2025

Germline genetic variation impacts clonal hematopoiesis landscape and progression to malignancy.

Liu J et al.

Nature Genetics, 2025

40664769 (PubMed )
Supplement: 41588_2025_2250_MOESM4_ESM.xlsx › ST6

Homozygous FANCM Variant c.5101C>T p.(Gln1701*) in a Patient With Early Onset Breast Cancer, Chemotherapy Toxicity, and Chromosome Fragility: A Case Report.

Sulkava S et al.

Cancer Reports (hoboken, N.j.), 2025

Germline Variant Burden Warrants Universal Genetic Testing in Pediatric Myeloid Leukemia.

Harmon LM et al.

Medrxiv : the Preprint Server for Health Sciences, 2025

40766138 (PubMed )
Supplement: media-1.pdf

Exome-based cancer predisposition gene testing can provide a genetic diagnosis for individuals with heterogeneous tumor phenotypes.

Hinić S et al.

European Journal of Human Genetics : Ejhg, 2025

Comparative sequencing study of mismatch repair and homology-directed repair genes in endometrial cancer and breast cancer patients from Kazakhstan.

Zheng Y et al.

International Journal of Cancer, 2025

Germline variants of homology-directed repair or mismatch repair genes in cervical cancer.

Kokemüller L et al.

International Journal of Cancer, 2025

Genetic Alterations, Therapy Response, and Survival Among Patients With Triple-Negative Breast Cancer: A Secondary Analysis of a Randomized Clinical Trial.

Richters L et al.

Jama Network Open, 2025

40009381 (PubMed )
Supplement: jamanetwopen-e2461639-s002.pdf

Comprehensive genetic screening of 70 severe adolescent idiopathic scoliosis probands reveals novel pathogenic variants and syndromic associations.

Horbacz M et al.

Frontiers in Medicine, 2025

Clinical and genetic spectrum of Fanconi anemia in Australia and New Zealand.

Fluhler H et al.

Genetics in Medicine Open, 2025

High- and Moderate-Risk Variants Among Breast Cancer Patients and Healthy Donors Enrolled in Multigene Panel Testing in a Population of Central Russia.

Shumilova S et al.

International Journal of Molecular Sciences, 2024

39684352 (PubMed )
Supplement: ijms-25-12640-s001.zip › Supplementary › Table_S2._PLP_genetic_variants_found_in_patients_with_breast_cancer.xlsx › table_S2

Germline Genetic Testing for Hereditary Breast and Ovarian Cancer: Current Concepts in Risk Evaluation.

Yadav S et al.

Cold Spring Harbor Perspectives in Medicine, 2024

FANCM branchpoint translocase: Master of traverse, reverse and adverse DNA repair.

Abbouche L et al.

Dna Repair, 2024

FANCM promotes PARP inhibitor resistance by minimizing ssDNA gap formation and counteracting resection inhibition.

Liu Z et al.

Cell Reports, 2024

Whole genome sequencing refines stratification and therapy of patients with clear cell renal cell carcinoma.

Culliford R et al.

Nature Communications, 2024

39009593 (PubMed )
Supplement: 41467_2024_49692_MOESM4_ESM.xlsx › Supp._Data_3

Integrative Analysis of Germline Rare Variants in Clear and Non-clear Cell Renal Cell Carcinoma.

Han SH et al.

European Urology Open Science, 2024

38496821 (PubMed )
Supplement: mmc2.xlsx › Table_S5

A comprehensive analysis of Fanconi anemia genes in Chinese patients with high-risk hereditary breast cancer.

Zhu QY et al.

Journal of Cancer Research and Clinical Oncology, 2023

Myelodysplastic syndrome and multiple solid tumours in an individual with compound heterozygous deleterious FANCM variants: A case report and review of the literature.

Ng JY et al.

British Journal of Haematology, 2023

TINF2 is a major susceptibility gene in Danish patients with multiple primary melanoma.

Jensen MR et al.

Hgg Advances, 2023

The Utility of NGS Analysis in Homologous Recombination Deficiency Tracking.

Tsantikidi A et al.

Diagnostics (basel, Switzerland), 2023

37761329 (PubMed )
Supplement: diagnostics-13-02962-s001.zip › supplementary__Table_S2.xlsx › Table_S2_Samples_analyzed

Pathogenic germline variants in SMARCA4 and further cancer predisposition genes in early onset ovarian cancer.

Herold N et al.

Cancer Medicine, 2023

37345881 (PubMed )
Supplement: CAM4-12-15256-s001.xlsx › Table_S1

Spectrum and Frequency of Germline FANCM Protein-Truncating Variants in 44,803 European Female Breast Cancer Cases.

Figlioli G et al.

Cancers, 2023

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

Genetic variants underlying spermatogenic arrests in men with non-obstructive azoospermia.

Ozturk S

Cell Cycle (georgetown, Tex.), 2023

Multiple Germline Events Contribute to Cancer Development in Patients with Li-Fraumeni Syndrome.

Subasri V et al.

Cancer Research Communications, 2023

37377903 (PubMed )
Supplement: crc-22-0402-s06.xlsx › B._Class2_SNVs_indels

Sertoli cell-only syndrome: advances, challenges, and perspectives in genetics and mechanisms.

Wang X et al.

Cellular and Molecular Life Sciences : Cmls, 2023

Association of FANCM Mutations with Familial and Early-Onset Breast Cancer Risk in a South American Population.

Morales-Pison S et al.

International Journal of Molecular Sciences, 2023

Whole exome sequencing and replication for breast cancer among Hispanic/Latino women identifies FANCM as a susceptibility gene for estrogen-receptor-negative breast cancer.

Nierenberg JL et al.

Medrxiv : the Preprint Server for Health Sciences, 2023

Integrative Analysis of Germline Rare Variants in Clear and Non-Clear Cell Renal Cell Carcinoma.

Han S et al.

Medrxiv : the Preprint Server for Health Sciences, 2023

36712083 (PubMed )
Supplement: media-1.xlsx › eTable.4

Frequency of pathogenic germline variants in cancer susceptibility genes in 1336 renal cell carcinoma cases.

Yngvadottir B et al.

Human Molecular Genetics, 2022

Uncovering the Contribution of Moderate-Penetrance Susceptibility Genes to Breast Cancer by Whole-Exome Sequencing and Targeted Enrichment Sequencing of Candidate Genes in Women of European Ancestry.

Dumont M et al.

Cancers, 2022

35884425 (PubMed )
Supplement: cancers-14-03363-s001.zip › Table_S3-final_16052022.xlsx › Table_S3A

Fanconi anemia and dyskeratosis congenita/telomere biology disorders: Two inherited bone marrow failure syndromes with genomic instability.

Fiesco-Roa MÓ et al.

Frontiers in Oncology, 2022

Protein truncating variants in FANCM and risk for ER-negative/triple negative breast cancer.

Peterlongo P et al.

Npj Breast Cancer, 2021

Pleiotropy-guided transcriptome imputation from normal and tumor tissues identifies candidate susceptibility genes for breast and ovarian cancer.

Kar SP et al.

Hgg Advances, 2021

34317694 (PubMed )
Supplement: mmc3.pdf

FANCM regulates repair pathway choice at stalled replication forks.

Panday A et al.

Molecular Cell, 2021

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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."