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4bases’paper of The Month – March 2024 -Hereditary cancer syndrome-associated pathogenic variants are common in patients with hematologic malignancies subsequent to primary solid cancer

The need for genetic diagnosis of hemato-oncology diseases is steadily increasing, driven by the advent of precision medicine. This month’s recommended reading: “Hereditary cancer syndrome-associated pathogenic variants are common in patients with hematologic malignancies subsequent to primary solid cancer” by Joowon Oh et al.[1]  presents a very interesting study of the germline genetic predisposition to secondary hematologic malignancies in patients with primary solid tumors during which 2 NGS panel tests were used on a cohort of 39 patients. These tests encompassed hereditary cancer predisposition genes and genes related to clonal hematopoiesis of indeterminate potential (CHIP). The study included patients who suffered from (as the most common primary cancers) thyroid cancer (35.4%), breast cancer (12.8%) and colorectal (10.3%) cancer and myeloid & lymphoid malignancies. Both a core gene panel and an extended gene panel were used, including 108 hereditary cancer genes and 31 CHIP genes. The positive rates of pathogenic variants were 7.4% to 12.6% when using the core gene panel and up to 20% when using the extended panel with all known cancer susceptibility genes.

The authors concluded that “In patients with primary solid cancer who are planning to undergo cytotoxic chemotherapy, radiotherapy, or RAIT, initial assessment with germline mutation testing using an extended NGS panel comprising low-, moderate-, and high-risk cancer-associated genes and somatic CHIP mutation testing can give clue to the patients who are at risk of developing therapy-related myeloid and lymphoid malignancies. Through careful screening and monitoring throughout the treatment process, patients may benefit from the early detection of secondary malignancies and receive proper treatment.”

We, at 4bases congratulate the authors on this very interesting study and confirm our commitment to support the scientific and medical community with innovative, extended panels dedicated to hemato-oncology. Discover Hemato pro, our CE-IVD panel for the analysis of 137 genes. 


[1] Oh J, Kim YR, Kim Y, Kim B, Park KS, Nam SH, Lee KA. Hereditary cancer syndrome-associated pathogenic variants are common in patients with hematologic malignancies subsequent to primary solid cancer. J Cancer. 2021 May 19;12(14):4288-4294. doi: 10.7150/jca.54169. PMID: 34093829; PMCID: PMC8176409.

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