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<p>Pathogenic variations in DNA checkpoint kinases, cell cycle regulation, and DNA-damage repair genes are responsible for hereditary cancer predisposition. In a woman with a history of multiple primary cancers (carcinoma rectum and papillary carcinoma of thyroid) at a young age, whole exome sequencing (WES) of the blood revealed a likely pathogenic germline variation NM_001161346.2(CHFR):c.1231C&gt;T (ClinVar variation ID: 1802254) in the <i>CHFR</i> gene. The <i>CHFR</i> gene encodes an E3-ubiquitin ligase and is required for antephase checkpoint maintenance and cell cycle entry into mitosis. It has previously been shown to be silenced in many human tumour types, including colon, lung, and esophageal tumours. Herein, we describe what is possibly the first case of CHFR-related hereditary cancer predisposition syndrome and, using RNA sequencing, elucidated the pathways associated with CHFR inactivation.</p>

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CHFR gene variations: A novel cause for hereditary cancer predisposition?

  • 期刊论文

  • 发表日期：

    2026年7月13日

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  • Ramakanth Chirravuri-Venkata,
  • Aneek Das Bhowmik,
  • Malini Nemalikanti,
  • Suryanarayan Mishra,
  • Bishwadeep Singha,
  • Valli Undamatla,
  • Chandreswara Raju Kataru,
  • Shreya,
  • Ramyasri Kola,
  • Divya Tej Sowpati,
  • Prajnya Ranganath,
  • Karthik Bharadwaj Tallapaka

摘要

Pathogenic variations in DNA checkpoint kinases, cell cycle regulation, and DNA-damage repair genes are responsible for hereditary cancer predisposition. In a woman with a history of multiple primary cancers (carcinoma rectum and papillary carcinoma of thyroid) at a young age, whole exome sequencing (WES) of the blood revealed a likely pathogenic germline variation NM_001161346.2(CHFR):c.1231C>T (ClinVar variation ID: 1802254) in the CHFR gene. The CHFR gene encodes an E3-ubiquitin ligase and is required for antephase checkpoint maintenance and cell cycle entry into mitosis. It has previously been shown to be silenced in many human tumour types, including colon, lung, and esophageal tumours. Herein, we describe what is possibly the first case of CHFR-related hereditary cancer predisposition syndrome and, using RNA sequencing, elucidated the pathways associated with CHFR inactivation.