{
  "abstract": "We report a case of BRCA1/BRCA2 double heterozygosity-a rare condition with an estimated prevalence of fewer than 1 in 100,000 individuals in unselected populations-identified through tumor genomic profiling in a 50-year-old Japanese woman with intrahepatic cholangiocarcinoma and no prior cancer history. Germline testing confirmed BRCA1 c.2389_2390del and BRCA2 c.5621_5624del. This case demonstrates that intrahepatic cholangiocarcinoma can be a sentinel malignancy of BRCA-related cancer predisposition, thus underscoring the importance of germline testing.",
  "abstract_shown": true,
  "affiliations": [],
  "article_type": null,
  "arxiv": null,
  "author_total": 15,
  "authors": [
    {
      "name": "Natsuko Inagaki"
    },
    {
      "name": "Yoshiya Yamauchi"
    },
    {
      "name": "Sawako Matsumoto"
    },
    {
      "name": "Sakiko Naito"
    },
    {
      "name": "Masato Bingo"
    },
    {
      "name": "Hourin Cho"
    },
    {
      "name": "Yuri Ueda"
    },
    {
      "name": "Jingyi Dong"
    },
    {
      "name": "Kazuyo Kiribayashi"
    },
    {
      "name": "Akiko Yamamoto"
    },
    {
      "name": "Aoi Sukeda"
    },
    {
      "name": "Toshitaka Nagao"
    },
    {
      "name": "Takashi Ishikawa"
    },
    {
      "name": "Atsushi Sofuni"
    },
    {
      "name": "Takao Itoi"
    }
  ],
  "bibtex": "https://research.draconitic.com/paper/9tvtb9te62jqg.bib",
  "cited_by": 0,
  "doi": "10.2169/internalmedicine.7739-26",
  "fulltext_url": "https://www.jstage.jst.go.jp/article/internalmedicine/advpub/0/advpub_7739-26/_article",
  "id": "9tvtb9te62jqg",
  "issns": [
    "1349-7235",
    "0918-2918"
  ],
  "landing_url": "https://www.jstage.jst.go.jp/article/internalmedicine/advpub/0/advpub_7739-26/_article",
  "language": null,
  "licence": "CC-BY-NC-ND",
  "licence_label": "CC BY-NC-ND",
  "licence_source": "journal",
  "licence_url": "https://creativecommons.org/licenses/by-nc-nd/4.0/",
  "metadata_licence": null,
  "native_subjects": [
    [
      "jstage-journal",
      "medicine/general"
    ],
    [
      "openalex",
      "1311|BRCA gene mutations in cancer"
    ]
  ],
  "openalex": "W7213882380",
  "pdf_url": "https://www.jstage.jst.go.jp/article/internalmedicine/advpub/0/advpub_7739-26/_pdf",
  "pmcid": null,
  "pmid": null,
  "published": "2026-09-22",
  "publisher": null,
  "ris": "https://research.draconitic.com/paper/9tvtb9te62jqg.ris",
  "sources": [
    {
      "first_seen": "2026-10-30T12:17:31Z",
      "native_id": "10.2169/internalmedicine.7739-26",
      "source": "jstage",
      "url": "https://www.jstage.jst.go.jp/article/internalmedicine/advpub/0/advpub_7739-26/_article"
    }
  ],
  "subjects": [
    {
      "field": "biology",
      "origin": "openalex:1311|BRCA gene mutations in cancer",
      "subfield": "genetics-genomics"
    }
  ],
  "title": "BRCA1/BRCA2 Double Heterozygosity Presenting as Intrahepatic Cholangiocarcinoma",
  "title_text": "BRCA1/BRCA2 Double Heterozygosity Presenting as Intrahepatic Cholangiocarcinoma",
  "type": "peer-reviewed",
  "updated_at": "2026-10-30T12:17:31Z",
  "url": "https://research.draconitic.com/paper/9tvtb9te62jqg",
  "venue": "Internal Medicine",
  "versions": []
}