Associated Papers
Whole-Exome Sequencing of Total Joint Arthroplasty Patients Who Have Known Pulmonary Embolism: A Pilot Study.
Mayfield CK et al.
The Journal of Arthroplasty, 2026
Comprehensive mapping elucidates high risk genotypes in primary metastatic breast cancer.
Berg T et al.
Neoplasia (new York, N.y.), 2025
40121945 (PubMed )
Supplement: mmc5.xlsx › Ark1
Variant curation and interpretation in hereditary cancer genes: An institutional experience in Latin America.
Manotas MC et al.
Molecular Genetics & Genomic Medicine, 2023
36905130 (PubMed )
Supplement: MGG3-11-e2141-s002.xlsx › VUS_Reclassified
Whole-Exome Sequencing and cfDNA Analysis Uncover Genetic Determinants of Melanoma Therapy Response in a Real-World Setting.
Vanni I et al.
International Journal of Molecular Sciences, 2023
36901733 (PubMed )
Supplement: ijms-24-04302-s001.zip › Supplementary_data._xls.xlsx › Foglio1
Evaluation of inherited germline mutations in cancer susceptibility genes among pancreatic cancer patients: a single-center study.
Tavano F et al.
Molecular Medicine (cambridge, Mass.), 2023
36717774 (PubMed )
Supplement: 10020_2023_600_MOESM1_ESM.xlsx › s1
Multi-gene panel testing and association analysis in Cypriot breast cancer cases and controls.
Zanti M et al.
Frontiers in Genetics, 2023
37790698 (PubMed )
Supplement: DataSheet1.xlsx › Table_S2
Investigation of monogenic causes of familial breast cancer: data from the BEACCON case-control study.
Li N et al.
Npj Breast Cancer, 2021
34117267 (PubMed )
Supplement: 41523_2021_279_MOESM2_ESM.xlsx › Supp._Table_4b_Recurrent_MS
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
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
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
Patterns and functional implications of rare germline variants across 12 cancer types.
Lu C et al.
Nature Communications, 2015
26689913 (PubMed )
Supplement: ncomms10086-s13.xlsx › supplementary_data_12
Constitutional sequence variation in the Fanconi anaemia group C (FANCC) gene in childhood acute myeloid leukaemia.
Barber LM et al.
British Journal of Haematology, 2003
Novel mutations and polymorphisms in the Fanconi anemia group C gene.
Gibson RA et al.
Human Mutation, 1996
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