Associated Papers
NGS detection of gene rearrangements and METexon14 mutations in liquid biopsy of advanced NSCLC patients: A study of two Italian centers.
Verzè M et al.
The Journal of Liquid Biopsy, 2024
Exonic splicing code and coordination of divalent metals in proteins.
Bakhtiar D et al.
Nucleic Acids Research, 2024
38055834 (PubMed )
Supplement: gkad1161_supplemental_files.zip › Supplementary_information-FORMATTED-revised.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 › ST1_Known_Germline_Variants
Characteristics of Adrenocortical Carcinoma Associated With Lynch Syndrome.
Domènech M et al.
The Journal of Clinical Endocrinology and Metabolism, 2021
Complete Loss of EPCAM Immunoexpression Identifies EPCAM Deletion Carriers in MSH2-Negative Colorectal Neoplasia.
Cuatrecasas M et al.
Cancers, 2020
33003511 (PubMed )
Supplement: cancers-12-02803-s001.pdf
The single-base-pair deletion, MSH2 c.2635-3delC affecting intron 15 splicing can be a cause of Lynch syndrome.
Ito T et al.
Japanese Journal of Clinical Oncology, 2019
Characterization of a rare variant (c.2635-2A>G) of the MSH2 gene in a family with Lynch syndrome.
Cariola F et al.
The International Journal of Biological Markers, 2018
Elucidating the molecular basis of MSH2-deficient tumors by combined germline and somatic analysis.
Vargas-Parra GM et al.
International Journal of Cancer, 2017
Usefulness of epithelial cell adhesion molecule expression in the algorithmic approach to Lynch syndrome identification.
Musulen E et al.
Human Pathology, 2013
Comparison between universal molecular screening for Lynch syndrome and revised Bethesda guidelines in a large population-based cohort of patients with colorectal cancer.
Pérez-Carbonell L et al.
Gut, 2012
Founder effect of a pathogenic MSH2 mutation identified in Spanish families with Lynch syndrome.
Menéndez M et al.
Clinical Genetics, 2010
High risk of endometrial cancer in colorectal cancer kindred is pathognomonic for MMR-mutation carriers.
Grindedal EM et al.
Familial Cancer, 2009
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