Prevalence of Lynch syndrome and Lynch-like syndrome among patients with colorectal cancer in a Japanese hospital-based population

Chika, Noriyasu; Eguchi, Hidetaka; Kumamoto, Kensuke; Suzuki, Okihide; Ishibashi, Keiichiro; Tachikawa, Tetsuhiko; Akagi, Kiwamu; Tamaru, Jun‐ichi; Okazaki, Yasushi; Ishida, Hideyuki

doi:10.1093/jjco/hyw200

Cited by 13 publications

(21 citation statements)

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“…Considering that 59 (18.7%) patients with dMMR and no BRAF V600E mutation did not receive germline sequencing, and the possibility of undiagnosed LS cases with constitutional MLH1 promoter methylation, 20 the incidence of LS is expected to be higher than 2.9% in our population. This result was similar to that found in Finnish and American studies, and much higher than reported in Mediterranean or Japanese populations where the prevalence was no more than 1% . However, the overall incidence of dMMR CRCs found in Chinese patients was relatively low compared to western populations.…”

Section: Discussionsupporting

confidence: 90%

Universal screening for Lynch syndrome in a large consecutive cohort of Chinese colorectal cancer patients: High prevalence and unique molecular features

Cai

et al. 2019

Intl Journal of Cancer

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The prevalence of Lynch syndrome (LS) varies significantly in different populations, suggesting that ethnic features might play an important role. We enrolled 3330 consecutive Chinese patients who had surgical resection for newly diagnosed colorectal cancer. Universal screening for LS was implemented, including immunohistochemistry for mismatch repair (MMR) proteins, BRAF V600E mutation test and germline sequencing. Among the 3250 eligible patients, MMR protein deficiency (dMMR) was detected in 330 (10.2%) patients. Ninety-three patients (2.9%) were diagnosed with LS. Nine (9.7%) patients with LS fulfilled Amsterdam criteria II and 76 (81.7%) met the revised Bethesda guidelines. Only 15 (9.7%) patients with absence of MLH1 on IHC had BRAF V600E mutation. One third (33/99) of the MMR gene mutations have not been reported previously. The age of onset indicates risk of LS in patients with dMMR tumors. For patients older than 65 years, only 2 patients (5.7%) fulfilling revised Bethesda guidelines were diagnosed with LS. Selective sequencing of all cases with dMMR diagnosed at or below age 65 years and only of those dMMR cases older than 65 years who fulfill revised Bethesda guidelines results in 8.2% fewer cases requiring germline testing without missing any LS diagnoses. While the prevalence of LS in Chinese patients is similar to that of Western populations, the spectrum of constitutional mutations and frequency of BRAF V600E mutation is different. Patients older than 65 years who do not meet the revised Bethesda guidelines have a low risk of LS, suggesting germline sequencing might not be necessary in this population. What's new?The prevalence of Lynch syndrome (LS) varies significantly in different ethnic populations. In this study, the authors screened more than 3000 Chinese colorectal cancer patients for mutations associated with LS, including mismatch repair (MMR) and BRAF V600E mutations. They found that, while the prevalence of LS in Chinese patients is similar to that of Western populations, the spectrum of mutations is different, including many not previously reported. Older patients had a decreased risk of LS, suggesting that germline sequencing may not be necessary in this population.

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Section: Discussionsupporting

confidence: 90%

Universal screening for Lynch syndrome in a large consecutive cohort of Chinese colorectal cancer patients: High prevalence and unique molecular features

Cai

et al. 2019

Intl Journal of Cancer

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“…The prevalence of MSI-H lesions in patients with synchronous CRC in the present study was relatively lower than the prevalence reported in Western countries. The frequency of LS was reported to be approximately 3-8% in the West (34), while that for Japan was 0.7% (36). Furthermore, the low rate of LS in Japanese patients might be the reason for low MSI-H concordance among patients with synchronous CRC in this study.…”

Section: Discussionmentioning

confidence: 54%

“…Firstly, no germline genetic testing for LS was conducted and we were not able to differentiate LS from LLS in this study. However, the rate of LS in this study was suspected to be low, approximately 0.7% according to a previous report in Japan (36). Secondly, we did not examine all subtypes of RAS in lesions of patients with synchronous CRC.…”

Section: Discussionmentioning

confidence: 68%

Molecular Subtypes Are Frequently Discordant Between Lesions in Patients With Synchronous Colorectal Cancer: Molecular Analysis of 59 Patients

et al. 2019

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“…In previous studies, the prevalence of familial adenomatous polyposis among the Japanese population was reported as 1 per 17,400 people . Moreover, while the prevalence of Lynch syndrome among the Japanese population is not clear, approximately 0.9% of all newly diagnosed colorectal cancers were diagnosed as Lynch syndrome . Therefore, hereditary colorectal cancer syndromes are not common and would not have affected the results of our study.…”

Section: Discussionmentioning

confidence: 57%

Family history of cancer and subsequent risk of cancer: A large‐scale population‐based prospective study in Japan

Hidaka¹,

Sawada²,

Svensson

et al. 2019

Intl Journal of Cancer

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Family history (FH) of cancer is an important factor of increased risk of several cancers. Although the association between FH of cancer and concordant cancer risk has been reported in many previous epidemiological studies, no comprehensive prospective study with adjustment for lifestyle habits has evaluated the association of FH of cancer and concordant cancer risk. We investigated the association between FH of cancer and concordant cancer risk in a Japanese population-based prospective study, initiated in 1990 for cohort I and in 1993 for cohort II. We analyzed data on 103,707 eligible subjects without a history of cancer who responded to a self-administered questionnaire including FH of cancer at baseline. Study subjects were followed through 2012 and analyzed using multivariable-adjusted Cox proportional hazards regression models. During 1,802,581 person-years of follow-up, a total of 16,336 newly diagnosed cancers were identified. Any site (Hazard ratios = 1.11 (95% confidence interval = 1.07-1.15]), esophagus (2.93 [1.06-3.51]) and bladder cancers (6.06 [2.49-14.74]) with FH of the concordant cancer were associated with an increased risk compared to those without FH. Our findings suggest that having FH of cancer is associated with an increased risk of several concordant cancer incidences in an Asian population. Enquiring about FH of several types of cancer may be important in identifying groups at high-risk of those cancers.

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Prevalence of Lynch syndrome and Lynch-like syndrome among patients with colorectal cancer in a Japanese hospital-based population

Cited by 13 publications

References 0 publications

Universal screening for Lynch syndrome in a large consecutive cohort of Chinese colorectal cancer patients: High prevalence and unique molecular features

Universal screening for Lynch syndrome in a large consecutive cohort of Chinese colorectal cancer patients: High prevalence and unique molecular features

Molecular Subtypes Are Frequently Discordant Between Lesions in Patients With Synchronous Colorectal Cancer: Molecular Analysis of 59 Patients

Family history of cancer and subsequent risk of cancer: A large‐scale population‐based prospective study in Japan

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