Ikuko Sakamoto

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BACKGROUND The contribution of BRCA1 and BRCA2 to ovarian cancer in Japanese patients is still unclear. This study investigated the frequency of germline mutations in BRCA1/2 in Japanese patients with ovarian, peritoneal, or fallopian tube cancer, regardless of their family histories, which were suggestive of hereditary breast and ovarian cancer. METHODS(More)
Tumor suppressor genes BRCA1 and BRCA2 are the two main breast and ovarian cancer susceptibility genes, and their genetic testing has been used to evaluate the risk of hereditary breast and ovarian cancer (HBOC). While several studies have reported the prevalence of BRCA1 and BRCA2 mutations in Japanese populations, there is insufficient information about(More)
PALB2 (Partner and Localizer of BRCA2) was identified as a moderate-risk gene in breast and pancreatic cancers. Recently, it was reported that PALB2 carriers have a high risk of developing breast cancer, with the cumulative risk of 34 % by the age of 70. Peripheral blood samples from 155 patients at risk for hereditary breast and/or ovarian cancer were(More)
The utility of Combined Annotation Dependent Depletion (CADD) Score was recently reported to rank the pathogenicity as C-scores ranging 1 to 99 for both convinced deleterious mutations and missense mutations. Using C-scores for BRCA1/2 variants, we tried to constitute the classification system for Variant of Uncertain Significance (VUS), which had been(More)
BACKGROUND Genetic analysis for individuals who are at risk for hereditary breast and ovarian cancer syndrome (HBOC) has becoming widely accepted. The poor introduction of the genetic testing of BRCA in Japan compared with western countries could be due to insufficient recognition of its importance, prejudice against a heredity disease, especially in(More)
A 44-year-old woman presented with high-grade fever. Chest radiography showed a 30 mm solitary pulmonary mass in the left lower lobe. Chest CT revealed a well-defined solid mass in the left lower lobe. On contrast-enhanced CT, the mass showed homogeneity and mild enhancement. There was an emphysematous portion in the surrounding lung parenchyma. The patient(More)
Partner and localizer of breast cancer 2 (PALB2) was identified as a moderate-risk gene of breast and pancreas cancer. The present authors previously reported that no PALB2 germline mutations with a deleterious frameshift or stop codons were identified in 155 Japanese patients with breast and/or ovarian cancer who were estimated to be at risk of hereditary(More)
BACKGROUND To assess the efficacy of screening with concurrent liquid-based cytology and human papillomavirus (HPV) testing for primary cervical cancer screening, we initiated a randomized trial entitled CervIcal cancer screening Trial by Randomization of HPV testing intervention for Upcoming Screening (CITRUS). METHODS Between June 2013 and March 2015,(More)
Approximately 5-10% of all breast and/or ovarian cancer cases are considered as inherited. BRCA1 and BRCA2 tumor suppressor genes account for a high penetrance of hereditary cases, but familial cases without mutations in these genes can also occur. Despite their low penetrance, other hereditary cancer-related genes are known to be associated with breast and(More)