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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 marrow dysfunction and susceptibility to malignancy, we genetically tested her relatives. The same variants were revealed, and both variants were located in the cis position. For patients with multiple GPVs in the BRCA2 gene, we should consider genetic testing of the relatives to confirm whether the variants are located in the cis or trans position under appropriate genetic counseling.

Biopsy of contralateral testis of 20 patients with an unilateral testicular tumor was carried out to evaluate the morphological changes of the contralateral testis caused by the tumor. Serum beta-chorionic gonadotropin (beta-hCG), follicle-stimulating hormone (FSH), luteinizing hormone (LH) and alpha-fetoprotein (AFP) levels before orchiectomy were examined as a function influencing morphological changes of the contralateral testis. Typical carcinoma in situ was found in a case of ipsilateral testis. The presence of a few atypical germ cells, however, was the only finding of the contralateral testis of three patients. Five of 20 patients revealed hypospermatogenesis in the contralateral intact testis. Most of the other patients also showed sloughing of germinal epithelium suggesting disorder of spermatogenesis. Johnsen's mean score count and tubular wall thickening were related to neither clinical stages, ESR, serum beta-hCG, AFP, LH nor FSH levels. Tubular wall thickening was observed in 8 of 10 patients with a tumor weighting over 150 g, but was found in only 1 of 10 patients with a lighter tumor (p less than 0.01).