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
Liver Transplantation for Unresectable Intrahepatic Cholangiocarcinoma: The Role of Sequencing Genetic Profiling.
Gruttadauria S et al.
Cancers, 2021
34885159 (PubMed )
Supplement: cancers-13-06049-s001.zip › cancers-1458237-supplementary.pdf
Tumor Signature Analysis Implicates Hereditary Cancer Genes in Endometrial Cancer Development.
Kondrashova O et al.
Cancers, 2021
33917078 (PubMed )
Supplement: cancers-13-01762-s001.zip › Kondrashova_etal_Supp_Tables.xlsx › Table_S5
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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