Handling of Germline Findings in Clinical Comprehensive Cancer Genomic Profiling

Mika Okazawa-Sakai, Yasuko Yamamoto, Mashu Futagawa, Miki Okamura, Satoko Miyawaki, Tomohiro Nishina, Kazuhiro Takehara, Toshiyuki Kozuki, Shuta Tomida, Ichinosuke Hyodo, Shozo Ohsumi, Akira Hirasawa

Research output: Contribution to journalArticlepeer-review


Patients found to have presumed germline pathogenic variants (PGPVs) during comprehensive genomic profiling (CGP) require genetic counseling (GC) referrals. We retrospectively investigated the outcomes of patients with PGPVs. Among 159 patients who underwent CGP, we recommended GC for the 16 patients with PGPVs (3 with [FG group] and 13 without [G Group] a family/personal history of hereditary cancer) as well as for the 8 patients with no PGPVs, but a history (F group); 2 (67%), 5 (38%), and 3 (38%) patients received GC in the FG, G, and F groups, respectively. Germline testing results were positive in 1 and 2 patients of the FG and G groups, respectively. Among the patients recommended for GC, 58% did not receive GC due to lack of interest, poor performance status, or death. CGP contributes to the identification of germline variants in patients without a history of hereditary cancer. However, the proportion of patients who undergo GC should be improved.

Original languageEnglish
Pages (from-to)673-678
Number of pages6
JournalActa medica Okayama
Issue number6
Publication statusPublished - Dec 1 2022


  • comprehensive genomic profiling
  • genetic counseling
  • germline findings
  • hereditary cancer
  • presumed germline pathogenic variant(s)

ASJC Scopus subject areas

  • Biochemistry, Genetics and Molecular Biology(all)


Dive into the research topics of 'Handling of Germline Findings in Clinical Comprehensive Cancer Genomic Profiling'. Together they form a unique fingerprint.

Cite this