Frequent occurrence of gastric cancer in Asian kindreds with Li–Fraumeni syndrome

Ariffin, Hany; Chan, Adelyne; Oh, Lixian; Abd-Ghafar, S.; Ong, Gek Bee; Mohamed, M Basha; Razali, H.; Juraida, Eni; Teo, Soo Hwang; Karsa, Mawar; Shamsani, Jannah; Hainaut, Pierre

doi:10.1111/cge.12525

Cited by 15 publications

(8 citation statements)

References 20 publications

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“…Our findings revealed that non-core tumors such as stomach cancer (n=2), lung cancer (n=2), and thyroid cancer (n=2) were recurrently present in Korean patients. A recent study reported that stomach cancer is more frequently detected in Asian patients compared with Caucasian patients [ 22 ]. This suggested differences in the tumor spectrum of LFS between Caucasian and Asian patients [ 22 ].…”

Section: Discussionmentioning

confidence: 99%

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Germline TP53 Mutation and Clinical Characteristics of Korean Patients With Li-Fraumeni Syndrome

et al. 2016

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BackgroundLittle is known of the mutation and tumor spectrum of Korean patients with Li-Fraumeni syndrome (LFS). Owing to the rarity of LFS, few cases have been reported in Korea thus far. This study aimed to retrospectively review the mutations and clinical characteristics of Korean patients with LFS.MethodsTP53 mutation was screened in 89 unrelated individuals at the Samsung Medical Center in Korea, from 2004 to 2015. Six additional mutation carriers were obtained from the literature.ResultsWe identified nine different mutations in 14 Korean patients (male to female ratio=0.3:1). Two such frameshift mutations (p.Pro98Leufs*25, p.Pro27Leufs*17) were novel. The recurrent mutations were located at codons 31 (n=2; p.Val31Ile), 175 (n=3; p.Arg175His), and 273 (n=4; p.Arg273His and p.Arg273Cys). The median age at the first tumor onset was 25 yr. Ten patients (71%) developed multiple primary tumors. A diverse spectrum of tumors was observed, including breast (n=6), osteosarcoma (n=4), brain (n=4), leukemia (n=2), stomach (n=2), thyroid (n=2), lung (n=2), skin (n=2), bladder (n=1), nasal cavity cancer (n=1), and adrenocortical carcinoma (n=1).ConclusionsThere was considerable heterogeneity in the TP53 mutations and tumor spectrum in Korean patients with LFS. Our results suggest shared and different LFS characteristics between Caucasian and Korean patients. This is the first report on the mutation spectrum and clinical characteristics from the largest series of Korean LFS patients.

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Section: Discussionmentioning

confidence: 99%

“…A recent study reported that stomach cancer is more frequently detected in Asian patients compared with Caucasian patients [ 22 ]. This suggested differences in the tumor spectrum of LFS between Caucasian and Asian patients [ 22 ].…”

Section: Discussionmentioning

confidence: 99%

Germline TP53 Mutation and Clinical Characteristics of Korean Patients With Li-Fraumeni Syndrome

et al. 2016

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“…Recently, Ikenoue et al reported a high incidence of stomach cancer in Lynch syndrome in Japan, with similar characteristics 64 . In addition, Ariffin et al reported the frequent occurrence of stomach cancer in Asian patients, particularly in Japanese patients, with a TP53 germline variant based on the IARC TP53 database R.16 in 2012, and reported that the frequent occurrence of stomach cancer in the general population might phenotypically determine the frequency of this cancer in Asian TP53 germline variant carriers 65 . Ariffin et al suggested that the frequent occurrence of stomach cancer in Asian populations compared with Western populations is due to a combination of dietary (high‐salt diet), environmental (chronic Helicobacter pylori infection), and genetic susceptibility risk factors 65 .…”

Section: Discussionmentioning

confidence: 93%

“…In addition, Ariffin et al reported the frequent occurrence of stomach cancer in Asian patients, particularly in Japanese patients, with a TP53 germline variant based on the IARC TP53 database R.16 in 2012, and reported that the frequent occurrence of stomach cancer in the general population might phenotypically determine the frequency of this cancer in Asian TP53 germline variant carriers 65 . Ariffin et al suggested that the frequent occurrence of stomach cancer in Asian populations compared with Western populations is due to a combination of dietary (high‐salt diet), environmental (chronic Helicobacter pylori infection), and genetic susceptibility risk factors 65 . Currently, the global frequency of cancer incidence in each population from 2003 to 2007 can be observed using the database managed by the IARC (http://ci5.iarc.fr/CI5-X/Pages/registry_summary.aspx).…”

Section: Discussionmentioning

confidence: 99%

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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“… 62 Similar to FAP and Lynch syndrome, Li–Fraumeni syndrome patients of Asian ancestry may have particularly increased risks of gastric cancer. 63 There are currently no consensus guidelines for gastric cancer screening in individuals with germline TP53 mutations and the prevalence of such mutations among unselected gastric cancer patients is unknown, although presumably quite rare.…”

Section: Li–fraumeni Syndromementioning

confidence: 99%

Historical Perspective on Familial Gastric Cancer

Boland

Yurgelun

2017

Cellular and Molecular Gastroenterology and Hepatology

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Gastric cancer is a common disease worldwide, typically associated with acquired chronic inflammation in the stomach, related in most instances to infection by Helicobacter pylori. A small percentage of cases occurs in familial clusters, and some of these can be linked to specific germline mutations. This article reviews the historical background to the current understanding of familial gastric cancer, focuses on the entity of hereditary diffuse gastric cancer, and also reviews the risks for gastric cancer related to a number of other familial genetic diseases.

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Frequent occurrence of gastric cancer in Asian kindreds with Li–Fraumeni syndrome

Cited by 15 publications

References 20 publications

Germline TP53 Mutation and Clinical Characteristics of Korean Patients With Li-Fraumeni Syndrome

Germline TP53 Mutation and Clinical Characteristics of Korean Patients With Li-Fraumeni Syndrome

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

Historical Perspective on Familial Gastric Cancer

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