{
  "abstract": "PROKR2 is an established gene associated with Kallmann syndrome (KS), and preclinical studies have suggested a possible role in tumor development. In this study, we report a patient with KS and microsatellite instability-high (MSI-H) colon cancer and aim to explore the potential association between PROKR2 variants and MSI-H status in colorectal cancer (CRC). Peripheral blood samples from the proband and his parents underwent whole-exome sequencing (WES) to identify germline variants. The WES revealed that both the proband and his father carried a likely pathogenic variant in the KS-associated gene PROKR2 (NM_144773.4:c.337T>C, p.Tyr113His). To place this case in a broader context, we performed exploratory bioinformatic analyses of somatic PROKR2 variants in two public CRC cohorts, DFCI-CRC and TCGA-CRC, although these cohort analyses cannot inform germline risk. In the DFCI-CRC cohort, PROKR2 somatic variant status showed no statistically significant association with MSI-H status in either the unadjusted or TMB-adjusted analysis. In the TCGA-CRC cohort, PROKR2 somatic variants were associated with higher unadjusted odds of MSI-H (OR = 5.50, 95% CI = 1.003–30.20, p = 0.0248, BH-adjusted q = 0.0495). After TMB adjustment, this positive association was not retained and the adjusted estimate was in the opposite direction (adjusted OR = 0.093, 95% CI = 0.014–0.549, p = 0.00875, BH-adjusted q = 0.0175). Accordingly, this case report describes the co-occurrence of PROKR2-related KS and MSI-H CRC in a single patient, although a causal relationship between PROKR2-related KS and CRC remains unestablished.",
  "abstract_shown": true,
  "affiliations": [
    "Key Laboratory of Cancer Prevention and Intervention, China National Ministry of Education, Key Laboratory of Molecular Biology in Medical Sciences, Department of Medical Oncology, The Second Affiliated Hospital, Zhejiang University School of Medicine, Hangzhou 310009, China",
    "Zhejiang Provincial Clinical Research Center for Cancer, Hangzhou 310022, China",
    "Department of Endocrinology, The Second Affiliated Hospital, Zhejiang University School of Medicine, Hangzhou 310009, China",
    "Cancer Center, Zhejiang University, Hangzhou 310058, China",
    "Center for Medical Research and Innovation in Digestive System Tumors, Ministry of Education, Hangzhou 310009, China"
  ],
  "article_type": null,
  "arxiv": null,
  "author_total": 10,
  "authors": [
    {
      "affs": [
        0,
        1
      ],
      "name": "Yier Lu"
    },
    {
      "affs": [
        0,
        1
      ],
      "name": "Dan Li"
    },
    {
      "affs": [
        2
      ],
      "name": "Weiwei Liang"
    },
    {
      "affs": [
        0,
        1
      ],
      "name": "Ziyan Tong"
    },
    {
      "affs": [
        0,
        1
      ],
      "name": "Xiuyuan Zhang"
    },
    {
      "affs": [
        0,
        1
      ],
      "name": "Yan He"
    },
    {
      "affs": [
        0,
        1
      ],
      "name": "Ningjuan Yu"
    },
    {
      "affs": [
        0,
        1
      ],
      "name": "Shanshan Weng"
    },
    {
      "affs": [
        0,
        1,
        3,
        4
      ],
      "name": "Ying Yuan",
      "orcid": "0000-0002-3922-9553"
    },
    {
      "affs": [
        0,
        1
      ],
      "name": "Mengyuan Yang"
    }
  ],
  "bibtex": "https://research.draconitic.com/paper/2eb0sdkdwqz3h.bib",
  "cited_by": 0,
  "doi": "10.3390/ijms27219703",
  "fulltext_url": null,
  "id": "2eb0sdkdwqz3h",
  "issns": [
    "1422-0067"
  ],
  "landing_url": "https://www.mdpi.com/1422-0067/27/21/9703",
  "language": null,
  "licence": "CC-BY-4.0",
  "licence_label": "CC BY 4.0",
  "licence_source": "article",
  "licence_url": "https://creativecommons.org/licenses/by/4.0/",
  "metadata_licence": null,
  "native_subjects": [],
  "openalex": null,
  "pdf_url": null,
  "pmcid": null,
  "pmid": null,
  "published": "2026-10-29",
  "publisher": "MDPI AG",
  "ris": "https://research.draconitic.com/paper/2eb0sdkdwqz3h.ris",
  "sources": [
    {
      "first_seen": "2026-10-30T12:18:58Z",
      "native_id": "10.3390/ijms27219703",
      "source": "crossref",
      "url": "https://www.mdpi.com/1422-0067/27/21/9703"
    }
  ],
  "subjects": [
    {
      "field": "biochemistry",
      "origin": "issn:1422-0067",
      "subfield": "general"
    }
  ],
  "title": "Kallmann Syndrome and MSI-H Colorectal Cancer in a Patient with a Germline PROKR2 Variant: A Case Report with Exploratory Cohort Analysis",
  "title_text": "Kallmann Syndrome and MSI-H Colorectal Cancer in a Patient with a Germline PROKR2 Variant: A Case Report with Exploratory Cohort Analysis",
  "type": "peer-reviewed",
  "updated_at": "2026-10-31T00:20:54Z",
  "url": "https://research.draconitic.com/paper/2eb0sdkdwqz3h",
  "venue": "International Journal of Molecular Sciences",
  "versions": []
}