지원사업
학술연구/단체지원/교육 등 연구자 활동을 지속하도록 DBpia가 지원하고 있어요.
커뮤니티
연구자들이 자신의 연구와 전문성을 널리 알리고, 새로운 협력의 기회를 만들 수 있는 네트워킹 공간이에요.
논문 기본 정보
- 자료유형
- 학술저널
- 저자정보
- 발행연도
- 2018.1
- 수록면
- 156 - 166 (11page)
이용수
초록· 키워드
오류제보하기
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 of LS in a large sample of Korean patients. Methods: We enrolled a total of 232 patients who fulfilled the revised Bethesda criteria (81%, 232/286) from 286 individuals who underwent genetic screening for LS (MLH1, MSH2, and MSH6 sequencing) in the Samsung Medical Center in Korea from 2004 to 2015. Histopathologic findings, microsatellite instability data, and clinical information were collected. Results: We identified 61 different pathogenic or likely pathogenic variants (39 in MLH1, 20 in MSH2, and 2 in MSH6), including 4 novel variants, in 101 unrelated Korean patients (101/232, 44%). When multiple tumor manifestations in a single patient were individually considered, there were 285 cancers recorded from 232 cases. A diverse spectrum of tumors, including colorectal cancer, endometrial cancer, stomach cancer, and ovary cancer, was observed. Patients with genetic alterations were more closely associated with a family history of cancers, double primary cancers, and the development of secondary neoplasms than patients without genetic alterations (P<0.0001, P=0.0052, and P=0.0010, respectively). Conclusions: We report the distribution of pathogenic variants in MLH1, MSH2, and MSH6, as well as the tumor spectrum, in a large sample of Korean patients with LS. Genetic testing could be an effective stratification strategy for surveillance of LS. This study sheds light on the genetic features of Asian patients with LS.
목차
등록된 정보가 없습니다.
참고문헌 (35)
참고문헌 신청
Vasen HF / 1991 / The International Collaborative Group on Hereditary Non-Polyposis Colorectal Cancer (ICG-HNPCC) / Dis Colon Rectum 34:424~425
Vasen HF / 1999 / New clinical criteria for hereditary nonpolyposis colorectal cancer (HNPCC, Lynch syndrome) proposed by the International Collaborative group on HNPCC / Gastroenterology 116:1453~1456
Umar A / 2004 / Revised Bethesda Guidelines for hereditary nonpolyposis colorectal cancer (Lynch syndrome) and microsatellite instability / J Natl Cancer Inst 96:261~268
Pande M / 2012 / Cancer spectrum in DNA mismatch repair gene mutation carriers: results from a hospital based Lynch syndrome registry / Fam Cancer 11:441~447
Wei W / 2010 / Racial differences in MLH1 and MSH2 mutation: an analysis of yellow race and white race based on the InSiGHT database / J Bioinform Comput Biol 8(Suppl 1):111~125
Vasen HF / 1999 / New clinical criteria for hereditary nonpolyposis colorectal cancer (HNPCC, Lynch syndrome) proposed by the International Collaborative group on HNPCC / Gastroenterology 116:1453~1456
Umar A / 2004 / Revised Bethesda Guidelines for hereditary nonpolyposis colorectal cancer (Lynch syndrome) and microsatellite instability / J Natl Cancer Inst 96:261~268
Pande M / 2012 / Cancer spectrum in DNA mismatch repair gene mutation carriers: results from a hospital based Lynch syndrome registry / Fam Cancer 11:441~447
Wei W / 2010 / Racial differences in MLH1 and MSH2 mutation: an analysis of yellow race and white race based on the InSiGHT database / J Bioinform Comput Biol 8(Suppl 1):111~125
함께 읽어보면 좋을 논문
논문 유사도에 따라 DBpia 가 추천하는 논문입니다. 함께 보면 좋을 연관 논문을 확인해보세요!
-
Screening for Lynch syndrome using risk assessment criteria in patients with ovarian cancer
Journal of Gynecologic Oncology
2018 .01
-
Diagnostic Effectiveness of Copy Number Variation Detection Using Multiplex Ligation-Dependent Probe Amplification in Patients with Lynch Syndrome-Related Cancer
Journal of Laboratory Medicine And Quality Assurance
2023 .06
-
Case Report of Menopausal Woman Diagnosed with Endometrial Cancer after Colon Cancer with Germline Mutation in MSH6 in Korea
대한폐경학회지
2017 .01
-
Characteristics of hereditary nonpolyposis colorectal cancer patients with double primary cancers in endometrium and colorectum
Obstetrics & Gynecology Science
2015 .01
-
α-MSH suppresses neuroinflammation and improves neurobehavioral outcomes after traumatic brain injury in mice
Medical Biological Science and Engineering
2023 .01
-
Associations of Genetic Variations in Mismatch Repair Genes MSH3 and PMS1 with Acute Adverse Events and Survival in Patients with Rectal Cancer Receiving Postoperative Chemoradiotherapy
Cancer Research and Treatment
2019 .01
-
A rare pseudomyxoma peritonei with a MSH2 variation of unknown significance and two mutation carrier family members
Journal of genetic medicine
2016 .01
-
Clinical Validity of Next-Generation Sequencing Multi-Gene Panel Testing for Detecting Pathogenic Variants in Patients With Hereditary Breast-Ovarian Cancer Syndrome
Annals of Laboratory Medicine
2020 .01
-
Analysis of Hereditary Nonpolyposis Colorectal Cancer in Malay Cohorts using Immunohistochemical Screening
Asian Pacific journal of cancer prevention : APJCP
2015 .01
-
Solubilized chlorin e6-layered double hydroxide complex for anticancer photodynamic therapy
생체재료학회지
2022 .09
-
Germline risk of patients with multiple Lynch syndrome related cancers and genomic comparison of multiple tumors from an individual
대한임상종양학회 학술대회지
2021 .06
-
Education for Cancer Patients
대한임상종양학회 학술대회지
2015 .02
-
Education for Cancer Patient
대한임상종양학회 학술대회지
2015 .02
-
The Mount Sinai Hospital Institute for critical care medicine response to the COVID-19 pandemic
Acute and Critical Care
2021 .08
-
Sebaceoma of the External Auditory Canal
대한이비인후-두경부외과학회지
2020 .01
-
Germline pathogenic variants in unselected Korean men with prostate cancer
Investigative and Clinical Urology
2022 .05
-
Clinical Features of Li-Fraumeni Syndrome in Korea
Cancer Research and Treatment
2024 .01
-
Baicalein Inhibits α-Melanocyte-stimulating Hormone-stimulated Melanogenesis via p38 Mitogen-activated Protein Kinase Pathway in B16F10 Mouse Melanoma Cells
대한암예방학회지
2023 .06
-
Quality of Life of Family Members Living with Cancer Patients
Asian Pacific journal of cancer prevention : APJCP
2015 .01
-
Comprehensive Cancer Panel Sequencing Defines Genetic Diversity and Changes in the Mutational Characteristics of Pancreatic Cancer Patients Receiving Neoadjuvant Treatment
Gut and Liver
2019 .01
이 논문의 저자 정보
최근 본 자료
댓글(0)
0