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
- 1 - 12 (12page)
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초록· 키워드
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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 suggests that universal screening may not be cost-efficient. However, the frequency of Lynch syndrome in ovarian cancer is unclear in the Asian population. The goal of the study was to investigate a screening strategy using family history. Methods: The subjects were 129 patients with ovarian cancer. Clinical and family history were collected using a self-administered questionnaire, and Society of Gynecologic Oncology (SGO) criteria 2007 and PREMM5 were used for risk assessment. Microsatellite instability, immunohistochemistry, and methylation of MMR genes were analyzed. Results: Of the 129 cases, 25 (19.4%) met the SGO criteria, and 4 of these 25 had MSI-high and MMR deficiency. Two cases had loss of MSH2 and MSH6, indicating MSH2 mutation, and the other two had loss of MLH1 and PMS2, including one without MLH1 methylation indicating MLH1 mutation. These results show that screening using family history can detect Lynch syndrome in 12.0% (3/25) of ovarian cancer cases. The 3 cases were positive for PREMM5, but negative for Amsterdam II criteria and revised Bethesda guidelines. Genetic testing in one case with MSH2 and MSH6 deficiency confirmed the diagnosis of Lynch syndrome with MSH2 mutation. Conclusion: This is the first study of screening for Lynch syndrome in ovarian cancer using clinical and family history in an Asian population. This approach may be effective for diagnosis in these patients.
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참고문헌 (40)
참고문헌 신청
Lynch HT / 1999 / Hereditary nonpolyposis colorectal cancer (HNPCC) / Cytogenet Cell Genet 86:130~135
Aarnio M / 1999 / Cancer risk in mutation carriers of DNA-mismatch-repair genes / Int J Cancer 81:214~218
Boilesen AE / 2008 / Risk of gynecologic cancers in Danish hereditary non-polyposis colorectal cancer families / Acta Obstet Gynecol Scand 87:1129~1135
Norquist BM / 2016 / Inherited mutations in women with ovarian carcinoma / JAMA Oncol 2:482~490
Pal T / 2008 / Systematic review and meta-analysis of ovarian cancers: estimation of microsatellite-high frequency and characterization of mismatch repair deficient tumor histology / Clin Cancer Res 14:6847~6854
Aarnio M / 1999 / Cancer risk in mutation carriers of DNA-mismatch-repair genes / Int J Cancer 81:214~218
Boilesen AE / 2008 / Risk of gynecologic cancers in Danish hereditary non-polyposis colorectal cancer families / Acta Obstet Gynecol Scand 87:1129~1135
Norquist BM / 2016 / Inherited mutations in women with ovarian carcinoma / JAMA Oncol 2:482~490
Pal T / 2008 / Systematic review and meta-analysis of ovarian cancers: estimation of microsatellite-high frequency and characterization of mismatch repair deficient tumor histology / Clin Cancer Res 14:6847~6854
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Germline Variants in MLH1, MSH2, and MSH6 in Korean Patients with Lynch Syndrome
Laboratory Medicine Online
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Diagnostic Effectiveness of Copy Number Variation Detection Using Multiplex Ligation-Dependent Probe Amplification in Patients with Lynch Syndrome-Related Cancer
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Case Report of Menopausal Woman Diagnosed with Endometrial Cancer after Colon Cancer with Germline Mutation in MSH6 in Korea
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A rare pseudomyxoma peritonei with a MSH2 variation of unknown significance and two mutation carrier family members
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Analysis of Hereditary Nonpolyposis Colorectal Cancer in Malay Cohorts using Immunohistochemical Screening
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2015 .01
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α-MSH suppresses neuroinflammation and improves neurobehavioral outcomes after traumatic brain injury in mice
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Characteristics of hereditary nonpolyposis colorectal cancer patients with double primary cancers in endometrium and colorectum
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The gate-keeping role of surgeons with regard to endometrial cancers in Lynch syndrome
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Universal Screening for Lynch Syndrome Compared with Pedigree-Based Screening: 10-Year Experience in a Tertiary Hospital
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Clinical Validity of Next-Generation Sequencing Multi-Gene Panel Testing for Detecting Pathogenic Variants in Patients With Hereditary Breast-Ovarian Cancer Syndrome
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2020 .01
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Screening for Lynch Syndrome in Young Colorectal Cancer Patients from Saudi Arabia Using Microsatellite Instability as the Initial Test
Asian Pacific journal of cancer prevention : APJCP
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Detection of Germline Mutations in Breast Cancer Patients with Clinical Features of Hereditary Cancer Syndrome Using a Multi-Gene Panel Test
Cancer Research and Treatment
2020 .01
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Comparison of immediate germline sequencing and multi-step screening for Lynch syndrome detection in high-risk endometrial and colorectal cancer patients
Journal of Gynecologic Oncology
2024 .01
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BRCA1/2 mutations, including large genomic rearrangements, among unselected ovarian cancer patients in Korea
Journal of Gynecologic Oncology
2018 .01
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Ovarian cancer screening in menopausal females with a family history of breast or ovarian cancer
Journal of Gynecologic Oncology
2016 .01
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난소암 치료에 대한 한의 임상 가이드라인
대한암한의학회지
2016 .01
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Frequency of Mismatch Repair Deficiency/High Microsatellite Instability and Its Role as a Predictive Biomarker of Response to Immune Checkpoint Inhibitors in Gynecologic Cancers
Cancer Research and Treatment
2022 .10
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Validation of Prediction Models for Mismatch Repair Gene Mutations in Koreans
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Clinical Features of Li-Fraumeni Syndrome in Korea
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