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A Case of Lynch Syndrome with the Deletion of Multiple Exons of the MLH1 Gene, Detected by Next-Generation Sequencing

Hong J, Kim H, Hong YS, Lee W, Lim SB, Byeon JS, Chun S, Min WK

A 26-year-old man underwent colonoscopy to investigate weight loss and a lesion suspicious of colorectal cancer was detected. He had a family history of colorectal cancer and hepatocellular carcinoma. The...
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Lynch syndrome – Muir-Torre variant: implication in gynecologic oncology

Bogani G, Leone Roberti Maggiore U, Raspagliesi F

No abstract available.
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Screening for Lynch syndrome using risk assessment criteria in patients with ovarian cancer

Takeda T, Tsuji K, Banno K, Yanokura M, Kobayashi , Tominaga E, Aoki D

OBJECTIVE: Lynch syndrome is a cancer predisposition syndrome caused by germline mutation of DNA mismatch repair (MMR) genes. Lynch syndrome only causes about 0.4% of cases of ovarian cancer, which...
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Major clinical research advances in gynecologic cancer in 2017

Suh DH, Kim M, Lee KH, Eom KY, Kjeldsen M, Mirza MR, Kim JW

In 2017, 10 topics were selected as major clinical research advances in gynecologic oncology. For cervical cancer, efficacy and safety analysis results of a 9-valent human papillomavirus (HPV) vaccine and...
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Germline Variants in MLH1, MSH2, and MSH6 in Korean Patients with Lynch Syndrome

Park KJ, Chang DK, Kim HC, Kim JW

BACKGROUND: The phenotypic and genetic spectrum of Lynch syndrome (LS) seems to differ according to ethnicity. The aim of this study was to investigate the clinical, pathological, and genetic features...
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Case Report of Menopausal Woman Diagnosed with Endometrial Cancer after Colon Cancer with Germline Mutation in MSH6 in Korea

Lee HJ, Lee MH, Choi MC, Jung SG, Joo WD, Kim TH, Lee C, Jang JH

We present a case of an endometrial cancer patient with germline mutation in MutS homolog 6 (MSH6), associated with Lynch syndrome. A 60-year-old Korean woman had a personal history of...
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Familial Pancreatic Cancer and the Future of Directed Screening

Welinsky S, Lucas AL

Pancreatic cancer (PC) is the third most common cause of cancer-related death in the United States and the 12th most common worldwide. Mortality is high, largely due to late stage...
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The gate-keeping role of surgeons with regard to endometrial cancers in Lynch syndrome

Kim MK

No abstract available.
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Genetic screening in young women diagnosed with endometrial cancer

Pecorino B, Rubino C, Guardalà , Galia A, Scollo P

OBJECTIVE: To evaluate the importance of Lynch syndrome associated risk screening in the patients aged less than 50 years affected from endometrial cancer. METHODS: From 2007 to 2014, 41 patients affected...
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Hereditary Nonpolyposis Colorectal Cancer

Oh BY

Hereditary nonpolyposis colorectal cancer (HNPCC) is the most common hereditary colorectal cancer syndrome and accounts for about 5% of colorectal cancer. It is inherited as autosomal dominant type and is...
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A rare pseudomyxoma peritonei with a MSH2 variation of unknown significance and two mutation carrier family members

Kim YM, Kim MK

Pseudomyxoma peritonei (PMP) is a rare tumor that usually originates in the appendix, but a small number of cases originate in the ovary. Lynch syndrome (LS) is an autosomal dominant...
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Validation of Prediction Models for Mismatch Repair Gene Mutations in Koreans

Lee SY, Kim DW, Shin YK, Ihn MH, Lee SM, Oh HK, Ku JL, Jeong SY, Lee JB, Ahn S, Won S, Kang SB

PURPOSE: Lynch syndrome, the commonest hereditary colorectal cancer syndrome, is caused by germline mutations in mismatch repair (MMR) genes. Three recently developed prediction models for MMR gene mutations based on...
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Clinicopathological Features and Type of Surgery for Lynch Syndrome: Changes during the Past Two Decades

Son IT, Kim DW, Jeong SY, Shin YK, Ihn MH, Oh HK, Kang SB, Park KJ, Oh JH, Ku JL, Park JG

PURPOSE: The Korean Hereditary Tumor Registry, the first and one of the largest registries of hereditary tumors in Korea, has registered about 500 families with hereditary cancer syndromes. This study...
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Management of long-term colorectal cancer survivors in Korea

Kang HT, Bahk HJ, Shim JY, Kim NK

Colorectal cancer (CRC) is the third most common cancer in Korea. Its average growth rate has been 3.7% annually from 1999 to 2013. The 5-year relative survival rate is 75.6%....
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Clinicopathologic characteristics of patients with sporadic colorectal cancer under the age of 30

Oh JW, Huh JW, Park YA, Cho YB, Yun SH, Lee WY, Kim HC

PURPOSE: The purpose of this study was to investigate the distinctive clinicopathologic features and oncological survival outcomes of sporadic colorectal cancer in patients under the age of 30 years old. METHODS:...
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Early onset of colorectal cancer in a 13-year-old girl with Lynch syndrome

Ahn DH, Rho JH, Tchah H, Jeon IS

Lynch syndrome is the most common inherited colon cancer syndrome. Patients with Lynch syndrome develop a range of cancers including colorectal cancer (CRC) and carry a mutation on one of...
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Improving survival after endometrial cancer: the big picture

Kwon JS

To improve survival in women with endometrial cancer, we need to look at the "big picture" beyond initial treatment. Although the majority of women will be diagnosed with early stage...
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Characteristics of hereditary nonpolyposis colorectal cancer patients with double primary cancers in endometrium and colorectum

Shin SH, Yu EJ, Lee YK, Song YS, Seong MW, Park SS

OBJECTIVE: The hereditary nonpolyposis colorectal cancer is inherited syndrome characterized by the development of cancers in various organ system; these includes colorectum, endometrium, and less frequently, small bowel, stomach, urinary...
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Clinical significance of mismatch repair genes immunohistochemical expression of complex endometrial hyperplasia

Han SJ, Kim MK

OBJECTIVE: Women with Lynch syndrome have an increased risk of developing colorectal and gynecologic malignancies such as endometrial cancer. Complex hyperplasia has about a 30% risk of developing into endometrial...
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hMLH1 promoter methylation and BRAF mutations in high-frequency microsatellite instability colorectal cancers not fulfilling the revised Bethesda guidelines

Kim SJ, Kim HR, Kim SH, Han JH, Cho YB, Yun SH, Lee WY, Kim HC

PURPOSE: Sporadic colorectal cancers with high-frequency microsatellite instability (MSI-H) are related to hypermethylation of mismatch repair (MMR) genes and a higher frequency of BRAF mutations than Lynch syndrome. We estimated...
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