Work

BRCA1/BRCA2 Double Heterozygosity Presenting as Intrahepatic Cholangiocarcinoma

Year: 2026

Type: article

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.

Source: Internal Medicine

DOI: 10.2169/internalmedicine.7739-26

Authors: Natsuko Inagaki, Yoshiya Yamauchi, Sawako Matsumoto, Sakiko Naito, Masato Bingo, Hourin Cho, Yuri Ueda, Jingyi Dong, Kazuyo Kiribayashi, Akiko Yamamoto, Aoi Sukeda, Toshitaka Nagao, Takashi Ishikawa, Atsushi Sofuni, Takao Itoi

Institutions: Tokyo Medical University, Tokyo Medical University Hospital

Language: English

Topic: BRCA gene mutations in cancer

Subfield: Genetics

Field: Biochemistry, Genetics and Molecular Biology

Domain: Life Sciences

SDG: Good health and well-being

Open Access status: diamond

OpenAlex ID: W7213882380

FWCI:

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