Associated Papers
Diagnostic Challenges due to a Germline Missense MSH2 Variant in a Patient With Immunotherapy-Responsive Locally Advanced Rectal Adenocarcinoma.
Evaristo G et al.
Cancer Reports (hoboken, N.j.), 2024
Large-scale application of ClinGen-InSiGHT APC-specific ACMG/AMP variant classification criteria leads to substantial reduction in VUS.
Yin X et al.
American Journal of Human Genetics, 2024
Prevalence of the cancer-associated germline variants in Russian adults and long-living individuals: using the ACMG recommendations and computational interpreters for pathogenicity assessment.
Gusakova M et al.
Frontiers in Oncology, 2024
39301547 (PubMed )
Supplement: DataSheet1.zip › Supplementary_Table_3.XLSX › all_group_1
Variant filtering, digenic variants, and other challenges in clinical sequencing: a lesson from fibrillinopathies.
Najafi A et al.
Clinical Genetics, 2020
31506931 (PubMed )
Supplement: CGE-97-235-s002.xlsx › All_variants_annotated
Mechanisms of Progression of Myeloid Preleukemia to Transformed Myeloid Leukemia in Children with Down Syndrome.
Labuhn M et al.
Cancer Cell, 2019
[Analysis of KRAS status in cancer tissue with submucosal or deeper invasion in patients with familial adenomatous polyposis].
Tajima Y et al.
Gan to Kagaku Ryoho. Cancer & Chemotherapy, 2013
Identification of APC gene mutations in jejunal carcinomas from a patient with familial adenomatous polyposis.
Ishida H et al.
Japanese Journal of Clinical Oncology, 2013
Jejunal cancer in patients with familial adenomatous polyposis.
Ruys AT et al.
Clinical Gastroenterology and Hepatology : the Official Clinical Practice Journal of the American Gastroenterological Association, 2010
Familial adenomatous polyposis.
Half E et al.
Orphanet Journal of Rare Diseases, 2009
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