BRCA1/BRCA2 Double Heterozygosity Presenting as Intrahepatic Cholangiocarcinoma.

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

Published in

Internal medicine (Tokyo, Japan). Sep 22, 2026. Epub Sep 22, 2026.

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.

PMID:
42778380
Bibliographic data and abstract were imported from PubMed on 24 Sep 2026.

Read full publication at:
Please sign in to see all details.

Stats

1-terrible, 9-excellent. How would you rate this publication? Sign in in to submit your rating.

Post a comment

You need to be signed in to post comments. You can sign in here.

Comments

There are no comments yet.