Associated Papers
Assessing germline mutational profile and its clinicopathological associations in Triple Negative Breast Cancer.
John J et al.
Cancer Genetics, 2025
Scalable approaches for generating, validating and incorporating data from high-throughput functional assays to improve clinical variant classification.
Padigepati SR et al.
Human Genetics, 2024
39085601 (PubMed )
Supplement: 439_2024_2691_MOESM2_ESM.xlsx › MSH2
Saturation-scale functional evidence supports clinical variant interpretation in Lynch syndrome.
Scott A et al.
Genome Biology, 2022
36550560 (PubMed )
Supplement: 13059_2022_2839_MOESM4_ESM.xlsx › msh2_som_mis_suppl
Clinical Testing for Mismatch Repair in Neoplasms Using Multiple Laboratory Methods.
Yang RK et al.
Cancers, 2022
36230473 (PubMed )
Supplement: cancers-14-04550-s001.zip › cancers-1836268-supplementary › SupplementaryDataYanget2022 › Table_S1._Case_Level_Data.xlsx › Sheet1
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
Prevalence of mismatch repair deficiency and Lynch syndrome in a cohort of unselected small bowel adenocarcinomas.
Suerink M et al.
Journal of Clinical Pathology, 2021
33046565 (PubMed )
Supplement: jclinpath-2020-207040supp003.pdf
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 › Every_test
Colorectal carcinoma with double somatic mismatch repair gene inactivation: clinical and pathological characteristics and response to immune checkpoint blockade.
Wang T et al.
Modern Pathology : an Official Journal of the United States and Canadian Academy of Pathology, Inc, 2019
Analysis on GENIE reveals novel recurrent variants that affect molecular diagnosis of sizable number of cancer patients.
Koyama T et al.
Bmc Cancer, 2019
30709382 (PubMed )
Supplement: 12885_2019_5313_MOESM2_ESM.xlsx › supplementary_2_filtered
Unexpected cancer-predisposition gene variants in Cowden syndrome and Bannayan-Riley-Ruvalcaba syndrome patients without underlying germline PTEN mutations.
Yehia L et al.
Plos Genetics, 2018
29684080 (PubMed )
Supplement: pgen.1007352.s010.xlsx › S9_Table
Functional analysis of rare variants in mismatch repair proteins augments results from computation-based predictive methods.
Arora S et al.
Cancer Biology & Therapy, 2017
Comprehensive screening for mutations associated with colorectal cancer in unselected cases reveals penetrant and nonpenetrant mutations.
Kraus C et al.
International Journal of Cancer, 2015
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