Analysis of CARD10 and CARD11 somatic mutations in patients with ovarian endometriosis

Yang Zou, Jiang-Yan Zhou, Jiangyan Zhou, Feng Wang, Zi-Yu Zhang, Ziyu Zhang, Fa-Ying Liu, Faying Liu, Yong Luo, Jun Tan, Xin Zeng, Xi‐di Wan, Xi-Di Wan, Ouping Huang, Ou-Ping Huang
Oncology letters · 2018 · vol. 16(1) , pp. 491–496 · doi:10.3892/ol.2018.8659 · PMID:29928437 · PMC6006461 · W2802382956
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⚙ AI-generated summary by claude@2026-06, 2026-06-08 ⓘ

This study identified four novel somatic mutations, two in CARD10 and two in CARD11, from 101 ovarian endometriosis patients, suggesting these mutations may contribute to disease development.

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⚙ AI-generated deep summary by claude@2026-06, 2026-06-10 ⓘ

This study investigated whether somatic mutations in CARD10 and CARD11 are present in ovarian endometriosis by sequencing the full coding regions of these genes in endometriotic lesions and paired peripheral blood from 101 patients, using evolutionary conservation and in silico prediction tools to assess likely disease-causing potential. Four novel somatic mutations were detected in 4/101 lesions (4.0%): two in-frame deletions in CARD10 and two heterozygous missense mutations in CARD11, with computational analyses suggesting pathogenicity; mutation status was confirmed against matched blood. A major caveat is that the study is based on mutation detection and bioinformatic prediction without functional validation of how these variants would affect endometriotic biology. This paper is centrally about endometriosis — it specifically analyzes CARD10 and CARD11 somatic mutations in ovarian endometriosis lesions.

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Abstract

Endometriosis is a complex and heterogeneous pre-malignant inflammatory disease harboring multiple gene mutations. Previous studies have suggested that caspase recruitment domain family member (CARD)10 and CARD11 mutations may exist in endometriosis. In the present study, a collection of endometriotic lesions and paired peripheral blood from 101 patients with ovarian endometriosis were obtained, and the entire coding sequences of the CARD10 and CARD11 genes were sequenced. Evolutionary conservation analysis and online prediction programs were applied to analyze the disease-causing potential of the identified mutations. A total of 4 novel somatic mutations were identified in 4 out of the 101 (4.0%) samples: 2 in-frame deletions in CARD10 (c.785_790delAGGAGA, p.K272_E273delKE; c.785_802delAGGAGAAGGAGAAGGAGA, p.K272_V277delKEPDNV) and 2 heterozygous missense mutations in CARD11 (c.49G>T, p.D17Y; c.160G>C, p.E54Q). The sample with CARD10 p.K272_E273delKE deletion was obtained from a 47-year-old patient who was also diagnosed with uterine leiomyoma, while the CARD10 p.K272_V277delKEPDNV-mutated sample was from a 43-year-old patient exhibiting a decreased blood eosinophil granulocyte ratio (0.3%) and an elevated serum creatine kinase level (314 U/l). The patient with the CARD11 p.D17Y mutation was 38 years old and exhibited an increased level of cancer antigen 125 (45.4 U/ml), while the patient with the CARD11 p.E54Q mutation was 46 years old and exhibited no other gynecological conditions. Evolutionary conservation analysis and online prediction programs suggested that these mutations may be disease-causing. In summary, 4 novel somatic mutations in the CARD10 and CARD11 genes were identified from amongst 101 cases of ovarian endometriosis for the first time, these mutations may serve active roles in the development of ovarian endometriosis.

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endometriosis

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