Varaico: Literature-Extracted Genetic Variants

Gene:BLM
Variant:p.N515delFs
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BLM

NM_000057.4:p.N515delFs

Associated Papers

Molecular analysis of the evolutionary history of endometrial and ovarian carcinoma in Lynch syndrome.

Kauppinen AK et al.

International Journal of Cancer, 2025

40772756 (PubMed )
Supplement: IJC-157-2294-s002.xlsx › A_Blood_as_normal

DNA polymerase epsilon-mutant colorectal cancers: Insights into non-exonuclease domain mutation variants, microsatellite instability status, and co-mutation profiles.

Taskiran I et al.

World Journal of Gastroenterology, 2025

Clinical and genomic features of Lynch syndrome differ by tumor site and disease spectrum.

Li S et al.

Nature Communications, 2025

41261115 (PubMed )
Supplement: 41467_2025_65164_MOESM6_ESM.xlsx › Figure_3C

Somatic mutations in Middle East and North Africa breast cancer patients: a systematic review.

Abujamous L et al.

The Oncologist, 2025

40665690 (PubMed )
Supplement: oyaf205_supplementary_data.zip › SupplementaryTable3.xlsx › SupplementaryTable3

Association of a CHEK2 somatic variant with tumor microenvironment calprotectin expression predicts platinum resistance in a small cohort of ovarian carcinoma.

de Amorim IFG et al.

Plos One, 2025

40146757 (PubMed )
Supplement: pone.0315487.s005.xlsx › All_variants

Advancing Cancer Care in Colombia: Results of the First In Situ Implementation of Comprehensive Genomic Profiling.

López Rivera JJ et al.

Journal of Personalized Medicine, 2024

39338229 (PubMed )
Supplement: jpm-14-00975-s001.zip › SUPPLEMENTARY_DATA.xlsx › Table_S2

Unravelling the role of PLK1 in tumorigenesis by revealing the mutational landscape of colorectal and lung cancer with PLK1 mutations.

Wang S et al.

Journal of Cellular and Molecular Medicine, 2024

38887977 (PubMed )
Supplement: JCMM-28-e18497-s004.xlsx › Sheet1

Genomic characterization and immunotherapy for microsatellite instability-high in cholangiocarcinoma.

Yang X et al.

Bmc Medicine, 2024

38281914 (PubMed )
Supplement: 12916_2024_3257_MOESM1_ESM.xlsx › Table_S4

Ischemic Stroke with Positive Antiphospholipid Antibodies in Bloom Syndrome: A Case Report.

Zhang J et al.

Journal of Stroke and Cerebrovascular Diseases : the Official Journal of National Stroke Association, 2024

Novel insights into tumorigenesis revealed by molecular analysis of Lynch syndrome cases with multiple colorectal tumors.

Olkinuora A et al.

Frontiers in Oncology, 2024

38725616 (PubMed )
Supplement: Table_2.xlsx › Table_S2

Evolutionary history of adenomas to colorectal cancer in FAP families.

Yang C et al.

Frontiers in Genetics, 2024

39021676 (PubMed )
Supplement: DataSheet1.ZIP › Somatic › 18R10494.xls › SNVIndel

Microsatellite instability and somatic gene variant profile in solid organ tumors.

Erdogdu IH et al.

Archives of Medical Science : Ams, 2024

Genomic Signatures from Clinical Tumor Sequencing in Patients with Breast Cancer Having Germline BRCA1/2 Mutation.

Kim JW et al.

Cancer Research and Treatment, 2023

Pure somatic pathogenic variation profiles for patients with serrated polyposis syndrome: a case series.

Hidaka M et al.

Bmc Research Notes, 2022

Chromothripsis is a frequent event and underlies typical genetic changes in early T-cell precursor lymphoblastic leukemia in adults.

Arniani S et al.

Leukemia, 2022

Distinct landscapes of deleterious variants in DNA damage repair system in ethnic human populations.

Qin Z et al.

Life Science Alliance, 2022

35595529 (PubMed )
Supplement: LSA-2021-01319_TableS3.xlsx › S3A

Whole-exome Sequencing of Nigerian Prostate Tumors from the Prostate Cancer Transatlantic Consortium (CaPTC) Reveals DNA Repair Genes Associated with African Ancestry.

White JA et al.

Cancer Research Communications, 2022

36922933 (PubMed )
Supplement: crc-22-0136-s01.xlsx › ST9_Somatic_Variants

NTRK fusion positive colorectal cancer is a unique subset of CRC with high TMB and microsatellite instability.

Wang H et al.

Cancer Medicine, 2022

35506567 (PubMed )
Supplement: CAM4-11-2541-s004.pdf

Case Report: Diabetes in Chinese Bloom Syndrome.

Deng M et al.

Frontiers in Endocrinology, 2021

Integrated Analysis of Genomic and Immunological Features in Lung Adenocarcinoma With Micropapillary Component.

Zhang S et al.

Frontiers in Oncology, 2021

34221970 (PubMed )
Supplement: Table_5.xlsx › Supplementary_Table_S5

Genetic ancestry analysis on >93,000 individuals undergoing expanded carrier screening reveals limitations of ethnicity-based medical guidelines.

Kaseniit KE et al.

Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2020

32595206 (PubMed )
Supplement: 41436_2020_869_MOESM2_ESM.xlsx › BLM

A Clinicopathological Study of 29 Spitzoid Melanocytic Lesions With ALK Fusions, Including Novel Fusion Variants, Accompanied by Fluorescence In Situ Hybridization Analysis for Chromosomal Copy Number Changes, and Both TERT Promoter and Next-Generation Sequencing Mutation Analysis.

Kastnerova L et al.

The American Journal of Dermatopathology, 2020

Genetic Variants Detected Using Cell-Free DNA from Blood and Tumor Samples in Patients with Inflammatory Breast Cancer.

Winn JS et al.

International Journal of Molecular Sciences, 2020

32075053 (PubMed )
Supplement: ijms-21-01290-s001.zip › ijms-703397_SI › Supplementary_Table_3.xlsx › Supplementary_Table_2_final

High-intensity sequencing reveals the sources of plasma circulating cell-free DNA variants.

Razavi P et al.

Nature Medicine, 2019

31768066 (PubMed )
Supplement: NIHMS1541314-supplement-1541314_Sup_Tab.xlsx › Supplementary_Table_6

Truncated PPM1D impairs stem cell response to genotoxic stress and promotes growth of APC-deficient tumors in the mouse colon.

Burocziova M et al.

Cell Death & Disease, 2019

31659152 (PubMed )
Supplement: 41419_2019_2057_MOESM5_ESM.xlsx › List1

appreci8: a pipeline for precise variant calling integrating 8 tools.

Sandmann S et al.

Bioinformatics (oxford, England), 2018

29945233 (PubMed )
Supplement: bty518_supplementary_data_s8.xls › Somatic_false_negative

Paclitaxel is necessary for improved survival in epithelial ovarian cancers with homologous recombination gene mutations.

Jean S et al.

Oncotarget, 2016

27191893 (PubMed )
Supplement: oncotarget-07-48577-s002.xlsx › Sheet1

Comparative genomic analysis of primary tumors and metastases in breast cancer.

Bertucci F et al.

Oncotarget, 2016

27028851 (PubMed )
Supplement: oncotarget-07-27208-s001.pdf

Uncovering the genomic heterogeneity of multifocal breast cancer.

Desmedt C et al.

The Journal of Pathology, 2015

25850943 (PubMed )
Supplement: path0236-0457-sd9.xlsx › Table_S4

Targeted sequencing of cancer-related genes in colorectal cancer using next-generation sequencing.

Han SW et al.

Plos One, 2013

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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."