Associated Papers
Variant reclassification in cancer susceptibility genes and an updated variant spectrum of Turkish breast and colorectal cancer patients.
Can ND et al.
Human Genomics, 2026
41656315 (PubMed )
Supplement: 40246_2026_915_MOESM4_ESM.xlsx › Sayfa1
The Genetic and Molecular Analyses of Rare Candidate Germline BRIP1/FANCJ Variants Implicated in Hereditary Breast and Ovarian Cancers.
Alenezi WM et al.
International Journal of Molecular Sciences, 2026
41596682 (PubMed )
Supplement: ijms-27-01037-s001.zip › ijms-3939313-18112015-supplementary-tables-edited-20012026.xlsx › Table_S3
Putative multiple myeloma susceptibility genes identified by exome sequencing of 347 familial and early-onset cases.
Pertesi M et al.
Leukemia, 2026
41254116 (PubMed )
Supplement: 41375_2025_2802_MOESM1_ESM.pdf
Clinical genome sequencing in patients with hereditary breast and ovarian cancer: Concept, implementation and benefits.
Witt D et al.
Breast (edinburgh, Scotland), 2025
40403485 (PubMed )
Supplement: mmc2.xlsx › Full_information
Classification of Gene Variants in a Danish Population with Suspected Predisposition to Hereditary Breast and/or Ovarian Cancer.
Munch AK et al.
Cancers, 2025
40507299 (PubMed )
Supplement: cancers-17-01819-s001.zip › cancers-3594035-supplementary.pdf
Detection rates of multigene panel and exome testing in patients with previous negative BRCA1/2 results.
Wasson JL et al.
Familial Cancer, 2025
Pathogenic germline variants in Chinese pancreatic adenocarcinoma patients.
Yin X et al.
Nature Communications, 2025
40044664 (PubMed )
Supplement: 41467_2025_57520_MOESM8_ESM.xlsx › Supplementary_Data_4_pathogenic
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
Design and validation of a clinical whole genome sequencing-based assay for patient screening in a large healthcare system.
Wagner JT et al.
Frontiers in Molecular Biosciences, 2025
41158875 (PubMed )
Supplement: DataSheet1.xlsx › D
An Analysis of Genetic Polymorphisms in 76 Genes Related to the Development of Ovarian Tumors of Different Aggressiveness.
Szafron LA et al.
International Journal of Molecular Sciences, 2024
39456660 (PubMed )
Supplement: ijms-25-10876-s001.zip › Supplement-variants.xlsx › 44.genes.SNP_all_variants
Endometrioid ovarian carcinoma landscape: pathological and molecular characterization.
de Nonneville A et al.
Molecular Oncology, 2024
38923749 (PubMed )
Supplement: MOL2-18-2586-s001.zip › mol213679-sup-0010-TableS7.xlsx › SupTable7
Genetic investigations on singleton school aged children reveal novel variants and new candidate genes for hearing loss.
Khan H et al.
Scientific Reports, 2024
39271758 (PubMed )
Supplement: 41598_2024_71407_MOESM1_ESM.xlsx › HPK8_het
De Novo Cancer Mutations Frequently Associate with Recurrent Chromosomal Abnormalities during Long-Term Human Pluripotent Stem Cell Culture.
Al Delbany D et al.
Cells, 2024
39195283 (PubMed )
Supplement: cells-13-01395-s001.zip › Source_data_Final.xlsx › Figure_1J
PAX5 Alterations in a Consecutive Childhood B-Cell Acute Lymphoblastic Leukemia Cohort Treated Using the ALL IC-BFM 2009 Protocol.
Črepinšek K et al.
Cancers, 2024
38539499 (PubMed )
Supplement: cancers-16-01164-s001.zip › cancers-2903666-supplementary.xlsx › Suppl._Table_S3
Genomic disparity impacts variant classification of cancer susceptibility genes in Turkish breast cancer patients.
Agaoglu NB et al.
Cancer Medicine, 2024
38308423 (PubMed )
Supplement: CAM4-13-e6852-s005.xlsx › Supp_Table_4
Renal neuroendocrine tumors: clinical and molecular pathology with an emphasis on frequent association with ectopic Cushing syndrome.
Kasajima A et al.
Virchows Archiv : an International Journal of Pathology, 2023
37405461 (PubMed )
Supplement: 428_2023_3596_MOESM1_ESM.xlsx › Supp_2__NGS_
Extensive intratumor regional epigenetic heterogeneity in clear cell renal cell carcinoma targets kidney enhancers and is associated with poor outcome.
El Khoury LY et al.
Clinical Epigenetics, 2023
37120552 (PubMed )
Supplement: 13148_2023_1471_MOESM1_ESM.xlsx › S3_Mutations_by_NGS
Evaluation of AlphaFold structure-based protein stability prediction on missense variations in cancer.
Keskin Karakoyun H et al.
Frontiers in Genetics, 2023
36896237 (PubMed )
Supplement: Table1.xlsx › clinvar_breastcancer_allvariant
Molecular and immunophenotypic characterization of SMARCB1 (INI1) - deficient intrathoracic Neoplasms.
Haberecker M et al.
Modern Pathology : an Official Journal of the United States and Canadian Academy of Pathology, Inc, 2022
35864317 (PubMed )
Supplement: 41379_2022_1133_MOESM1_ESM.pdf
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 › ST2_Germline_Variants
Next-Generation Sequencing-Directed Therapy in Patients with Metastatic Breast Cancer in Routine Clinical Practice.
Bruzas S et al.
Cancers, 2021
34572791 (PubMed )
Supplement: cancers-13-04564-s001.zip › cancers-1336427-supplementary › Supplementary_material › Table_S1_-_Genetic_alterations_identified_by_NGS_in_95_patients_with_metastatic_breast_cancer.xlsx › Table_S1
Analysis of Sequence and Copy Number Variants in Canadian Patient Cohort With Familial Cancer Syndromes Using a Unique Next Generation Sequencing Based Approach.
Bhai P et al.
Frontiers in Genetics, 2021
34326862 (PubMed )
Supplement: Data_Sheet_1.zip › Supplementary_files › Supplementary_Table_S4.xlsx › Variant_summary
Spectrum of germline cancer susceptibility gene mutations in Turkish colorectal cancer patients: a single center study
Erdem HB et al.
Turkish Journal of Medical Sciences, 2020
Challenges in reporting pathogenic/potentially pathogenic variants in 94 cancer predisposing genes - in pediatric patients screened with NGS panels.
Chirita-Emandi A et al.
Scientific Reports, 2020
31937788 (PubMed )
Supplement: 41598_2019_57080_MOESM2_ESM.xlsx › candidate_variants
Analysis of hereditary cancer syndromes by using a panel of genes: novel and multiple pathogenic mutations.
Tsaousis GN et al.
Bmc Cancer, 2019
31159747 (PubMed )
Supplement: 12885_2019_5756_MOESM6_ESM.xlsx › Supplementary_Table_S5
Multigene panel sequencing of established and candidate melanoma susceptibility genes in a large cohort of Dutch non-CDKN2A/CDK4 melanoma families.
Potjer TP et al.
International Journal of Cancer, 2019
Germline mutation landscape of Chinese patients with familial breast/ovarian cancer in a panel of 22 susceptibility genes.
Wang J et al.
Cancer Medicine, 2019
30982232 (PubMed )
Supplement: CAM4-8-2074-s004.xlsx › Sheet1
[Mutation Spectrum of FANCJ Gene in Adult Acute Myeloid Leukemia].
Liu SB et al.
Zhongguo Shi Yan Xue Ye Xue Za Zhi, 2019
Identification of different mutational profiles in cancers arising in specific colon segments by next generation sequencing.
Oliveira DM et al.
Oncotarget, 2018
29844865 (PubMed )
Supplement: oncotarget-09-23960-s003.xlsx › Supplemental_Table_S2
BRIP1 loss-of-function mutations confer high risk for familial ovarian cancer, but not familial breast cancer.
Weber-Lassalle N et al.
Breast Cancer Research : Bcr, 2018
29368626 (PubMed )
Supplement: 13058_2018_935_MOESM1_ESM.pdf
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
iFish: predicting the pathogenicity of human nonsynonymous variants using gene-specific/family-specific attributes and classifiers.
Wang M et al.
Scientific Reports, 2016
27527004 (PubMed )
Supplement: srep31321-s4.xls › SwissvarFilteredMix
Germline variation in cancer-susceptibility genes in a healthy, ancestrally diverse cohort: implications for individual genome sequencing.
Bodian DL et al.
Plos One, 2014
24728327 (PubMed )
Supplement: pone.0094554.s002.xlsx › Table_S1
Absence of truncating BRIP1 mutations in chromosome 17q-linked hereditary prostate cancer families.
Ray AM et al.
British Journal of Cancer, 2009
Mutational analysis of the BRCA1-interacting genes ZNF350/ZBRK1 and BRIP1/BACH1 among BRCA1 and BRCA2-negative probands from breast-ovarian cancer families and among early-onset breast cancer cases and reference individuals.
Rutter JL et al.
Human Mutation, 2003
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