- 著者
- Ken YAMAGUCHI Kenichi URAKAMI Takeshi NAGASHIMA Yuji SHIMODA Shumpei OHNAMI Sumiko OHNAMI Keiichi OHSHIMA Tohru MOCHIZUKI Keiichi HATAKEYAMA Masakuni SERIZAWA Yasuto AKIYAMA Kouji MARUYAMA Hirohisa KATAGIRI Yuji ISHIDA Kaoru TAKAHASHI Seiichiro NISHIMURA Masanori TERASHIMA Taiichi KAWAMURA Yusuke KINUGASA Yushi YAMAKAWA Tetsuro ONITSUKA Yasuhisa OHDE Takashi SUGINO Ichiro ITO Hiroyuki MATSUBAYASHI Yasue HORIUCHI Maki MIZUGUCHI Mutsumi YAMAZAKI Kengo INOUE Kimiko WAKAMATSU Misato SUGIYAMA Katsuhiko UESAKA Masatoshi KUSUHARA
- 出版者
- バイオメディカルリサーチプレス
- 雑誌
- Biomedical Research (ISSN:03886107)
- 巻号頁・発行日
- vol.37, no.4, pp.259-264, 2016-08-01 (Released:2016-08-20)
- 参考文献数
- 25
- 被引用文献数
- 7
Using whole exome sequencing data obtained from 1,685 Japanese cancer patients, we examined genetic variations of germline TP53 and found 10 types of non-synonymous single nucleotide variants. In the present study, we focused on 6 patients with germline D49H mutation located in the transactivation domain 2 of p53 protein, since the mutation seemed to be prevalent in cancer patients and to be pathogenic. According to the initial survey for family history of the proband with the germline TP53 D49H mutation, one osteosarcoma patient and his pedigree fulfill the criteria for Li-Fraumeni-like syndrome and the 2009 Chompret criteria for germline TP53 mutation screening. Since this patient possesses double germline mutations of TP53 D49H and A159D, further studies are required to evaluate contribution of the D49H mutation in this morbidity. The remaining 5 patients had family histories of cancer, but none fulfills the criteria either for the Li-Fraumeni/Li-Fraumeni-like syndromes or the 2009 Chompret criteria for germline TP53 mutation screening. It is possible to postulate that the germline TP53 D49H mutation is likely to be low-penetrant in some pedigrees. The present study also indicates that the survey for the germline TP53 mutation plays an important role in clinical practice as it will prevent mistaking cancer patients with unusual heredities for sporadic cases.
- 著者
- Takashi ARAKAWA Shogo HAYASHI Yusuke KINUGASA Gen MURAKAMI Mineko FUJIMIYA
- 出版者
- Editorial Board of Okajimas Folia Anatomica Japonica
- 雑誌
- Okajimas Folia Anatomica Japonica (ISSN:0030154X)
- 巻号頁・発行日
- vol.87, no.2, pp.49-58, 2010 (Released:2012-02-10)
- 参考文献数
- 32
- 被引用文献数
- 14 29
To investigate intergender differences in muscle cleavage and joining during development of the external anal sphincter (EAS), we examined semiserial sections of 16 fetuses between 15 and 30 weeks of gestation (6 males and 10 females). The subcutaneous part of the EAS (EASsc) developed along the male perineal raphe and extended posteriorly. Thus, the male EAS was characterized by anterior protrusion of the subcutaneous muscle, in contrast to the almost circular female EAS. In both genders, the bulbospongiosus anlage (or the levator ani anlage) issued muscle fibers to form the superficial (or deep) part of the EAS. The EASsc communicated with the superficial part in males, whereas the female bulbospongiosus tended to communicate with the levator ani rather than the EAS. In both genders, the longitudinal muscle bundle(s) of the anorectum contributed to perineal body formation. However, the male perineal body also had a thick fascia between the rhabdosphincter and the levator. The bulbospongiosus seems to play a critical role in forming the EAS. A strict intergender difference in subcutaneous muscle development is evident along the perineal raphe, as the raphe is not evident in females. These results help to explain variations in the EAS, including anal malformations.