Hereditary Non-polyposis Colorectal Cancer/Lynch Syndrome in Korean Patients with Endometrial Cancer
ABSTRACT We investigate the frequency of hereditary non-polyposis colorectal cancer among Korean endometrial cancer patients according to two clinical criteria and the uptake rate of a genetic test and genetic status of such patients in routine clinical practice.
This was a retrospective study involving 161 consecutive endometrial cancer patients. Patients were classified into clinical and suspected hereditary non-polyposis colorectal cancer. Using direct sequencing, germline mutations were analyzed in the MLH1 and MSH2 genes.
There were four (2.5%) clinical hereditary non-polyposis colorectal cancer patients, three of whom underwent genetic testing, and a mutation (c.882delT) in the MSH2 gene was identified in one patient. There were also 14 (8.7%) suspected hereditary non-polyposis colorectal cancer patients, 6 of whom underwent genetic testing; 1 [1/6 (16.7%)] patient had a mutation (c.1757_1758insC) in the MLH1 gene and 1 patient had a sequence variant of unknown significance (c.1886A < G) in the MSH2 gene. Half of the patients (9 of 18) who met clinical or suspected hereditary non-polyposis colorectal cancer criteria declined genetic testing mainly for the reason of financial factor (8 of 9).
The proportion of hereditary non-polyposis colorectal cancer [11.2% (18 of 161)] was significant to offer genetic counseling and genetic testing in Korean endometrial cancer patients. Optimal financial support is crucial to increase the uptake rate of a genetic test.
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- "LS has an incidence of 1:2000 – 1:660 . LS is an autosomal dominant disorder caused by defective DNA mismatch repair genes (MLH1, MSH2, MSH6 or PMS2) [7,8]. About 2% of uterine cancer is attributable to LS and among affected women aged younger than 50 years the prevalence of LS increases to 9% . "
ABSTRACT: Uterine cancer (UC) represents 5.1% of all female malignancies in Sweden. Accumulation of UC in families occurs in around 5% of cases. We wanted to identify any familial association between UC and other selected cancers and to study the frequency of Lynch,Cowden and cancer syndromes among consecutive UC patients in Sweden. 481 UC patients were included. Information on the cancer diagnoses of their relatives (first- (FDRs) and second-degree (SDRs) relatives and first cousins) was obtained. The relative frequencies of different cancers among relatives were compared to those in the Swedish general cancer population in 1970 and 2010. Families that fulfilled the criteria for hereditary cancer syndromes were tested for mutations in the causative genes. Families with at least one case of UC in addition to the index patient were compared to families with no additional cases to investigate possible characteristics of putative hereditary cancer syndromes. There was an increased prevalence of UC in our study population compared to the Swedish general cancer population in 1970 and 2010 (6% vs. 4% and 3%, respectively). Seven families had Lynch Syndrome according to the Amsterdam II criteria. No families fulfilled the criteria for Cowden syndrome. In total 13% of index patients had at least one relative with UC and these families tended to have more cases of early onset cancer among family members. In addition, 16% of index patients were diagnosed with at least one other cancer. No families fulfilled the criteria for Cowden syndrome. We showed a familial clustering of UC among relatives of our index patients. Of the seven families with mutation-verified Lynch Syndrome, only one had been previously diagnosed, highlighting the need to increase gynecologists’ awareness of the importance of taking family history. Our data on multiple cancers and young age of onset in families with uterine cancer is compatible with the existence of additional hereditary uterine cancer syndromes.Hereditary Cancer in Clinical Practice 05/2014; 12(1):14. DOI:10.1186/1897-4287-12-14 · 1.47 Impact Factor
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- "Risk reducing surgery, based on genetic tests and genetic counseling for the hereditary portion of endometrial and ovarian cancer, might reduce their incidence. In Korean females, the hereditary portion of endometrial and ovarian cancer is significant, as is the case in other ethnic populations [1,2]. "
ABSTRACT: To investigate the recent incidence of and trends in cervical, endometrial, and ovarian cancer in Korean females. Data from the Korea Central Cancer Registry between 1999 and 2010 were analyzed. Age-standardized rates (ASRs) and annual percent changes (APCs) were calculated. THE ABSOLUTE INCIDENCE RATES OF THE THREE MAJOR GYNECOLOGIC CANCERS INCREASED: 6,394 in 1999 to 7,454 in 2010. The ASR for gynecologic cancer was 23.7 per 100,000 in 1999 and decreased to 21.0 in 2010 (APC, -1.1%; 95% confidence interval [CI], -1.53 to -0.70) due to a definitive decrease in the incidence of cervical cancer (APC, -4.3%). Endometrial cancer has been definitively increasing (APC, 6.9% during 1999-2010), especially in females <30 years old (APC, 11.2%) and in females ≥80 years old (APC, 9.5%). The incidence of ovarian cancer is increasing gradually (APC, 1.5%). ASRs and APC for gynecologic cancers overall are decreasing due to the decrease in the incidence of cervical cancer. However, the incidence of endometrial and ovarian cancer has been increasing.Journal of Gynecologic Oncology 10/2013; 24(4):298-302. DOI:10.3802/jgo.2013.24.4.298 · 2.49 Impact Factor
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- "Frequency of Lynch syndrome in Korean endometrial cancer patients has been reported to be 3.5% (4/113)  and 11.2% (18/161) , but there are no reports describing synchronous gynecologic tumors. Therefore, we undertook the present study to evaluate the frequency of Lynch syndrome in Korean women with synchronous gynecologic tumors including endometrial and ovarian cancers based on family history and IHC. "
ABSTRACT: Lynch syndrome is a hereditary cancer syndrome that increases the risks of colorectal and gynecologic malignancies such as endometrial and ovarian cancer. Studies have shown that mutations in mismatch repair genes (MSH2, MSH6, and MLH1) are associated with Lynch syndrome. The aim of our study was to estimate the value of MSH2, MSH6, and MLH1 immunohistochemistry based on family history in a Korean sample. Thirty six women with synchronous gynecologic tumors of endometrial and ovarian cancer were identified among patients being treated at our institution. Among them, 32 patients had tumor blocks (total 62 slides) available for analysis. According to a diagnostic algorithm, we performed immunohistochemistry analyses. Staining was scored based on intensity and proportion (negative or 0: intensity undetectable or minimal, proportion <5%; weak or 1+: intensity mild, proportion 5-30%; strong or 2+: intensity moderate to marked, proportion 30-99%). Among 32 eligible patients, 9 (28%) had a family history of cancer. Six patients (19%) were negative for MLH1; among them, four (4/6) were negative at both sites. Nine patients (28%) were negative for MSH2 or MSH6 at both sites or negative for both MSH2 and MSH6. Among these three patients showed negative staining for both sites. The three patients showing negative staining for MLH1, MSH2, and MSH6 at both sites with family history were considered to be the screening positive groups of Lynch syndrome. In this study, the frequency of Lynch syndrome associated immunohistochemical staining (MLH1, MSH2, and MSH6) group was estimated as 9% (3/32) among Korean women with synchronous gynecologic tumors.Journal of Gynecologic Oncology 12/2011; 22(4):233-8. DOI:10.3802/jgo.2011.22.4.233 · 2.49 Impact Factor