Journal article

Tumor Signature Analysis Implicates Hereditary Cancer Genes in Endometrial Cancer Development.

Olga Kondrashova, Jannah Shamsani, Tracy A O'Mara, Felicity Newell, Amy E McCart Reed, Sunil R Lakhani, Judy Kirk, John V Pearson, Nicola Waddell, Amanda B Spurdle

Cancers (Basel) | Published : 2021


Risk of endometrial cancer (EC) is increased ~2-fold for women with a family history of cancer, partly due to inherited pathogenic variants in mismatch repair (MMR) genes. We explored the role of additional genes as explanation for familial EC presentation by investigating germline and EC tumor sequence data from The Cancer Genome Atlas (n = 539; 308 European ancestry), and germline data from 33 suspected familial European ancestry EC patients demonstrating immunohistochemistry-detected tumor MMR proficiency. Germline variants in MMR and 26 other known/candidate EC risk genes were annotated for pathogenicity in the two EC datasets, and also for European ancestry individuals from gnomAD as a ..

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University of Melbourne Researchers


Awarded by National Health and Medical Research Council

Awarded by Cancer Council Queensland

Awarded by Cancer Council Tasmania

Awarded by Cancer Australia