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BMC Cancer. 2017 Dec 13;17(1):843. doi: 10.1186/s12885-017-3799-y.

Prevalence and characteristics of hereditary non-polyposis colorectal cancer (HNPCC) syndrome in immigrant Asian colorectal cancer patients.

Author information

Division of Hematology and Oncology, Department of Internal Medicine, Maimonides Medical Center, 6300 8th Avenue, Brooklyn, NY, 11220, USA.
Department of Health Policy and Management, Graduate School of Public Health, University of Pittsburgh, Pittsburgh, PA, 15261, USA.
Department of Pathology, Maimonides Medical Center, 4802 10th Avenue, Brooklyn, NY, 11219, USA.
CBLPath, 760 Westchester Avenue, Rye Brook, NY, 10573, USA.
Woman's Health Labs, 3495 Hacks Cross Road, Memphis, TN, 38125, USA.
Meridian Medical Group-Specialty Care, 1100 Route 72 West, Suite 201, Manahawkin, NJ, 08050-2446, USA.
Department of Internal Medicine, Brigham and Women's Hospital, 75 Francis Street, Boston, MA, 02115, USA.
Private Practice, 115 St Nicholas Avenue, Brooklyn, NY, 11237, USA.
Division of Hematology and Oncology, Department of Internal Medicine, Maimonides Medical Center, 6300 8th Avenue, Brooklyn, NY, 11220, USA.



The prevalence of Hereditary Non-Polyposis Colorectal Cancer (HNPCC) is 2 to 5% in the Caucasian population. HNPCC is caused by genomic mutations in DNA mismatch repair genes (MMR), namely MLH1, MSH2, MSH6, PMS2, and EPCAM. A non-hereditary, acquired process of hypermethylation of the MLH1 promoter can also lead to silencing of MLH1 protein expression. Diagnosis of HNPCC in patients with colorectal and other related cancers is important in the clinical treatment and surveillance of related cancers. The prevalence and clinical characteristics of HNPCC in Asian colorectal cancer patients has been reported in small studies and unique features have been suggested.


We retrospectively reviewed the clinical characteristics of Asian patients who were diagnosed of colon cancer between 1/2002 and 6/2015, and performed IHC for four MMR protein expressions on tumor specimens as a screening test for HNPCC, followed by confirmatory tests of genomic sequencing and hypermethylation analysis.


One hundred forty-three patients were identified. Thirty-one patients were diagnosed younger than 50 years old, while 112 patients were diagnosed older than 50 years old. Six cases of HNPCC were found with a prevalence of 4.19%. The prevalence in the group of patients diagnosed younger than 50 years old is 16.1%, and that in patients diagnosed older than 50 years old is 0.89%. All patients with HNPCC had family histories of colon or gastric cancer. Tumor locations in the HNPCC patients were predominantly in the descending or sigmoid colon (67%). Half of the HNPCC patients had MSH6 mutations. Hypermethylation of the MLH1 gene was only present in 2.80% of the patients.


The prevalence of HNPCC is high in patients younger than 50 years old and extremely low in those older than 50 years old. These results may be useful in the future development of guidelines for HNPCC laboratory screening among Asian patients. The pathological and clinical features of HNPCC in this group of Asian immigrant patients are more similar to those reported on Asian patients in their home countries than to Caucasian patients in Western countries, and will warrant further large-scale evaluation.


Asian; Colorectal cancer; Hnpcc; Lynch syndrome; Screening

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