Juvenile Rectal Cancer in a Family with Li-Fraumeni Syndrome

Matsuoka, Tadashi; Shinozaki, Hiroharu; Ozawa, Hiroki; Nakanishi, Ryota; Shimizu, Tetsuichiro; Ishida, Takashi; Terauchi, Toshiaki; Kimata, Masaru; Kobayashi, Kenji; Ogata, Yoshiro

doi:10.5833/jjgs.2015.0230

Cited by 3 publications

(2 citation statements)

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“…Information on families with a TP53 germline variant was obtained by searching PubMed (http://www.ncbi.nlm.nih.gov/pubmed), Japan Medical Abstracts Society (http://search.jamas.or.jp), and the IARC TP53 database R.18 4 . We used the keywords “Li‐Fraumeni,” “ TP53 ,” and “Japan” for our search and collected data on families carrying a TP53 germline variant 27‐54 . Data on sex, age at tumor onset, tumor sites, histopathological diagnosis, presence or absence of simultaneous or metachronous cancers, and TP53 variant sites and types were obtained from the studies.…”

Section: Methodsmentioning

confidence: 99%

“…Since the first report in 1992 that identified TP53 germline variants in two cases from a family survey of children with adrenocortical cancer (ACC) in Japan, a considerable number of studies on families with a TP53 germline variant have been published 27‐54 . However, no large‐scale studies have been conducted on this syndrome in Japan, and the specific clinical and pathological features of cancers occurring in the Japanese population with TP53 germline variants remain unknown.…”

Section: Introductionmentioning

confidence: 99%

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Characteristics of Li‐Fraumeni syndrome in Japan: A review study by the special committee of JSHT

Funato

Tsunematsu

Yamazaki³

et al. 2021

Cancer Science

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Li‐Fraumeni syndrome (LFS) is a hereditary cancer predisposition syndrome, and the majority of patients with LFS have been identified with germline variants in the p53 tumor suppressor (TP53) gene. In the past three decades, considerable case reports of TP53 germline variants have been published in Japan. To the best of our knowledge, there have been no large‐scale studies of Japanese patients with LFS. In this study, we aimed to identify Japanese patients with TP53 germline variants and to reveal the characteristics of LFS in Japan. We collected reported cases by reviewing the medical literature and cases diagnosed at the institutions of the authors. We identified 68 individuals from 48 families with TP53 germline pathogenic or likely pathogenic variants. Of the 48 families, 35 (72.9%) had missense variants, most of which were located within the DNA‐binding loop. A total of 128 tumors were identified in the 68 affected individuals. The 128 tumor sites were as follows: breast, 25; bones, 16; brain, 12; hematological, 11; soft tissues, 10; stomach, 10; lung, 10; colorectum, 10; adrenal gland, 9; liver, 4; and others, 11. Unique phenotype patterns of LFS were shown in Japan in comparison with those in a large national LFS cohort study in France. Above all, a higher frequency of patients with stomach cancer was observed in Japanese TP53 germline variant carriers. These results may provide useful information for the clinical management of LFS in Japan.

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Section: Methodsmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%