Panel sequencing of susceptibility genes for hereditary breast and ovarian cancer (HBOC) syndrome has uncovered numerous germline variants; however, their pathogenic relevance and ethnic diversity remain unclear. Here, we examined the prevalence of germline variants among 568 Japanese patients with BRCA1/2-wildtype HBOC syndrome and a strong family history. Pathogenic or likely pathogenic variants were identified on 12 causal genes for 37 cases (6.5%), with recurrence for 4 SNVs/indels and 1 CNV. Comparisons with non-cancer east-Asian populations and European familial breast cancer cohorts revealed significant enrichment of PALB2, BARD1, and BLM mutations. Younger onset was associated with but not predictive of these mutations. Significant somatic loss-of-function alterations were confirmed on the wildtype alleles of genes with germline mutations, including PALB2 additional somatic truncations. This study highlights Japanese-associated germline mutations among patients with BRCA1/2 wildtype HBOC syndrome and a strong family history, and provides evidence for the medical care of this high-risk population.

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The present study examined the relation between Aerobic Capacity and Motor Abilities, and their regional characteristics. A motor performance test was administered to 206 (56 persons in 2002, 66 in 2003 and 84 in 2004) dwellers in Kasari town, Amami island. The test consisted of measurement of grip strength, sitting trunk flexion, one-leg standing, walking at maximum speeds, aerobic capacity (Physical Work Capacity, Breath Holding Time After Exercise, Vital Capacity). The results indicated that all aerobic capacities do not deteriorate with aging. Significant correlations between motor performances were detected in breath holding time after exercise and sitting trunk flexion, vital capacity and walking at maximum speeds. Breath holding time after exercise and vital capacity were smaller than those of two rural communities, and the national averages.

e purpose of the study is to clarify the subjective experiences of patients with hematological malignancies during recuperation of over one year and their decision making processes used with these phenomena. Semi-structured interviews were conducted on 7 participants, and a qualitative

The present study examined the relation between knee extension strength and motor ability. A motor performance test was administered to 106 (38 males and 68 females, aged 17 to 85) dwellers in Kasari town, Amami island. The test consisted of measurements of knee extension strength, grip strength, sitting trunk flexion, one-leg standing and walking at maximum speeds. The results indicate that mean values of knee extension strength were 29.4 kg in men and 21.7 kg in women. Mean values of knee extension strength/weight were 42.7% in men and 41% in women. The determinants of knee extension strength were one-leg standing and walking at maximum speed in all subjects; walking at maximum speed in middle-aged women; and grip strength and sitting trunk flexion in elderly women.