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Background <p>In Japan, <i>BRCA</i> genetic testing for the diagnosis of hereditary breast and ovarian cancer is covered by medical insurance. However, other breast cancer (BC) susceptibility genes are rarely examined in these patients, primarily because medical insurance does not cover testing for these genes.</p> Methods <p>A multigene panel testing (MGPT) was conducted on patients with BC who met the clinical criteria for <i>BRCA</i> genetic testing.</p> Results <p>Of the 494 patients, 45 germline pathogenic variants (GPVs) were identified (9.11%). The <i>BRCA</i> genetic testing criteria items with GPV detection rates &gt; 10% were as follows: “diagnosed at age ≤ 45 years,” “diagnosed with triple-negative breast cancer (TNBC) at age ≤ 60 years” and “≥1 close blood relative within the third degree on the same side of the family with breast, ovarian, or pancreas cancer.”</p> Conclusions <p>. MGPT can identify GPVs in genetically high-risk BC patients, including both <i>BRCA1/2</i> and non-<i>BRCA</i> genes. Thus, MGPT may be an effective approach to support appropriate clinical management for both patients and their relatives.</p>

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Prevalence and clinical significance of germline pathogenic variants identified by multigene panel testing in high-risk Japanese patients with breast cancer

  • 期刊论文

  • 出版模式：

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  • 发表日期：

    2026年5月13日

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  • Miharu Kano,
  • Kanae Taruno,
  • Mayuko Inuzuka,
  • Reiko Makino,
  • Mieko Takeuchi,
  • Misato Suzuki,
  • Kumiko Kida,
  • Junko Takei,
  • Aiko Nagayama,
  • Tetsu Hayashida,
  • Yurie Haruyama,
  • Takayuki Ueno,
  • Chie Watanabe,
  • Yasuyuki Kojima,
  • Rumi Sasai,
  • Mikiko Endo,
  • Yukihide Momozawa,
  • Seigo Nakamura

摘要

Background

In Japan, BRCA genetic testing for the diagnosis of hereditary breast and ovarian cancer is covered by medical insurance. However, other breast cancer (BC) susceptibility genes are rarely examined in these patients, primarily because medical insurance does not cover testing for these genes.

Methods

A multigene panel testing (MGPT) was conducted on patients with BC who met the clinical criteria for BRCA genetic testing.

Results

Of the 494 patients, 45 germline pathogenic variants (GPVs) were identified (9.11%). The BRCA genetic testing criteria items with GPV detection rates > 10% were as follows: “diagnosed at age ≤ 45 years,” “diagnosed with triple-negative breast cancer (TNBC) at age ≤ 60 years” and “≥1 close blood relative within the third degree on the same side of the family with breast, ovarian, or pancreas cancer.”

Conclusions

. MGPT can identify GPVs in genetically high-risk BC patients, including both BRCA1/2 and non-BRCA genes. Thus, MGPT may be an effective approach to support appropriate clinical management for both patients and their relatives.