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Four cancer cases with pathological germline variant RAD51D c.270_271dup.

The journal of obstetrics and gynaecology research - 1 Sept 2024

Ishihara Eiko, Matsubayashi Hiroyuki, Nishimura Seiichiro, Isaka Mitsuhiro, Konno Hayato, Goto Seiya, Yamaguchi Ken, Urakami Kenichi

Abstract excerpt

Pathological germline variants (PGVs) of RAD51D increase the risk of breast and ovarian cancer. In East Asia, c.270_271dup is the most frequently detected PGV of RAD51D; however, only a few cases have been reported in Japan. We report four cancer cases with a germline RAD51D c.270_271dup PGV. Three of them (lung cancer: 2, oral cancer: 1) were incidentally identified by whole genome sequencing in patients...

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PMID: 39117461
DOI: 10.1111/jog.16045

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