[BRCA2 Mutation Profile in a Proband with Hereditary Breast and Ovarian Cancer-Two Germline Pathogenic Variants Aligned in the Cis Position].

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[BRCA2 Mutation Profile in a Proband with Hereditary Breast and Ovarian Cancer-Two Germline Pathogenic Variants Aligned in the Cis Position].

Gan to kagaku ryoho. Cancer & chemotherapy - 1 Oct 2023

Yukisawa Seigo, Kakinuma Toshiyuki, Yotsumoto Junko, Kawakami Kentaro, Furukawa Junji, Shinozaki Hiroharu

Abstract excerpt

We report the first Japanese case of hereditary breast and ovarian cancer(HBOC)carrying 2 germline pathogenic variants (GPVs)in the BRCA2 gene. Genetic testing of the BRCA1 and BRCA2 genes was performed in a young woman with HBOC and 2 GPVs were identified in the BRCA2 gene. Since simultaneous GPVs in both parental alleles(ie, trans)in the BRCA2 gene is diagnostic of Fanconi anemia, which is characterized by bone...

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[BRCA2 Mutation Profile in a Proband with Hereditary Breast and Ovarian Cancer-Two Germline Pathogenic Variants Aligned in the Cis Position].

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