ArticleJournal of human genetics2023
A Japanese case of ovarian mucinous adenocarcinoma with germline double variants of MSH2 and BRCA2.
Article in Journal of human genetics, 2023. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 6 papers.
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Who cites it
6 citing papers in PubMed, 4 citations in OpenAlex.
- Gallbladder cancer with dual genetic variants of PMS2 and BRCA2: a case report.Clinical journal of gastroenterology · 2026Article
- Multilocus Inherited Neoplasia Alleles Syndrome in a Patient With BRCA2-Associated Breast Cancer and MLH1-Related Lynch Syndrome.Case reports in oncological medicine · 2026Article
- The Roles of MicroRNAs, Oncogenes, and Tumor Suppressor Gene Molecular Subtypes of Breast Cancer: Therapeutic Potential of Pharmaceutical and Natural Products.International journal of breast cancer · 2026Review
- De novo familial adenomatous polyposis with germline double heterozygosity of APC/BRCA2: a case report and literature review.Hereditary cancer in clinical practice · 2025Article
- Case Report: Clinical impact ofFrontiers in oncology · 2025Article
- Phenotypes of carriers of two mutated alleles in major cancer susceptibility genes.Breast cancer research and treatment · 2024Article
Corrections and comments
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Authors and funding
12 authors at 1 institution in 1 country.
Funding
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Abstract
Germline double heterozygosity (GDH) is rarely reported in cases of inherited cancer syndromes, and GDH of a mismatch repair gene and BRCA has never been reported in Japan. Nonetheless, the current report demonstrates a case of ovarian mucinous adenocarcinoma with initiated Lynch syndrome (LS)-related surveillance because of a known germline MSH2 variant. Six and a half years after oophorectomy, multiple tumors developed in the patient's lungs, bones, and lymph nodes, and histology results confirmed mucinous adenocarcinoma. Systemic chemotherapy including an anti-PD-L1 antibody was effective for >1 year, but brain metastases developed. Pathology of the brain tumors showed mucinous adenocarcinoma without expression of MSH2 and MSH6, while multi-gene panel testing demonstrated not only high microsatellite instability and a high tumor mutation burden, but also germline BRCA2 variants. Further, germline testing in relatives confirmed both variants were from the paternal line, from which many LS-related cancers develop, but not BRCA-related cancer.
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