The following article features coverage from the 2017 American Society of Clinical Oncology (ASCO) Annual Meeting in Chicago, Illinois. Click here to read more of Cancer Therapy Advisor‘s conference coverage.

The relationship between pathogenic or likely pathogenic variants (PV/LPVs) in genes among patients with a personal and family history of sarcoma and sarcoma risk remains unclear, according to a study presented at the 2017 American Society of Clinical Oncology Annual Meeting in Chicago, Illinois.1

Testing for multiple syndromes in multi-gene hereditary cancer tests increases the probability of detecting a predisposition to cancer. Researchers aimed to describe the yield and distribution of PV/LPV for patients reporting a personal history of sarcoma undergoing panel testing.

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Through retrospective review, they analyzed personal/family history of sarcoma, panel test results, and demographic data for those with a personal history of sarcoma. Patients also underwent panel testing (next-generation sequencing [NGS] and del/dup) of up to 61 genes, as well a TP53 analysis prior or concurrently.

Of the 374 enrolled patients, 53 (14.2%) possessed 1 or more PV/LPV in 14 genes: TP53, BRCA2, CHEK2, BRCA1, ATM, MSH6, MLH1, NBN, BAP1, BRIP1, FLCN, MSH2, PTEN, and RB1.

Approximately 10% of patients reported both a personal and family history of sarcoma, but the likelihood of detecting PV/LPV was not greater than in patients reporting only a personal history.

The data showed BRCA1/2 (15/372, 4.0%) and TP53 (12/372, 3.2%) genes most frequently contained PV/LPV. Nearly half of patients with PV/LPV in non-TP53 genes (17/41, 41.5%) met the National Comprehensive Cancer Network (NCCN) TP53 testing criteria. 

Most of the PV/LPVs were detected in genes where the link to sarcoma is not well defined.

RELATED: Future Treatment Modalities in Sarcoma: Insights From ASCO 2017

Findings from the study did not establish a definitive relationship — causal or not — between sarcoma risk and the presence of PV/LPV in genes. There may, however, be potential clinical benefits to performing hereditary cancer risk assessments and multi-gene panel testing in patients with sarcoma, the researchers concluded.

Read more of Cancer Therapy Advisor‘s coverage of the 2017 American Society of Clinical Oncology (ASCO) Annual Meeting by visiting the conference page.


  1. Jackson SA, Baxter MD, Mester J, et al. Multigene hereditary cancer testing in sarcoma patients. J Clin Oncol. 2017;35(suppl; abstr 1518).