유전성 대장암

김덕우(Duck-Woo Kim) 대한의학유전학회 2010 대한의학유전학회지 Vol.7 No.1

대장암은 우리나라에서 가장 급격하게 발생이 증가하는 암종의 하나로 유전성 대장암은 전체 대장암의 5-15%를 차지한다. 유전성 대장암은 크게 유전성 비용종증 대장암과 유전성 용종 증후군에서 발생하는 대장암으로 나눌 수 있고, 유전성 용종 증후군에는 가족성 용종증, 포이츠-예거 증후군, 유년기 용종증, MYH 연관 용종증 등이 이에 해당한다. 유전성 대장암은 원인 유전자의 배선돌연변이에 기인하므로 산발성 대장암에 비하여 암이 조기 발생하고, 동시성 및 이시성 암이 흔하며, 대장 이외의 장기에도 종양을 비롯한 질병을 일으키는 특징이 있다. 유전성 대장암은 환자뿐 아니라 가족구성원에 대한 유전자 검사, 유전 상담, 조기 진단을 위한 정기 검진이 매우 중요하며, 이러한 환자 및 가족구성원의 효율적 관리를 위한 유전성종양 등록소의 역할이 중요하다. 본 논문에서는 유전성 대장암에 해당하는 질환들의 임상적/유전적 특성, 치료, 유전자 검사 및 정기검진 프로그램에 대하여 고찰하고자 한다. Colorectal cancer is one of the most steeply increasing malignancies in Korea. Among 398,824 new patients recorded by the Korea Central Cancer Registry between 2003 and 2005, 47,915 cases involved colorectal cancers, accounting for 12.0 % of all malignancies. In 2002, total number of colorectal cancer cases had accounted for 11.2 % of all malignancies. Hereditary syndromes are the source of approximately 5% to 15% of overall colorectal cancer cases. Hereditary colorectal cancers are divided into two types: hereditary nonpolyposis colorectal cancer (HNPCC), and cancers associated with hereditary colorectal polyposis, including familial adenomatous polyposis (FAP), Peutz-Jeghers syndrome, juvenile polyposis, and the recently reported hMutYH (MYH)-associated polyposis (MAP). Hereditary colorectal cancers have unique clinical features distinct from sporadic cancer because these are due to germline mutations of the causative genes; (ⅰ) early age-of-onset of cancer, (ⅱ) frequent association with synchronous or metachronous tumors, (ⅲ) frequent association with extracolonic manifestations. The management strategy for patients with hereditary colorectal cancer is quite different from that for sporadic cancer. Furthermore, screening, genetic counseling, and surveillance for at-risk familial member are also important. A well-organized registry can plays a central role in the surveillance and management of families affected by hereditary colorectal cancers. Here, we discuss each type of hereditary colorectal cancer, focusing on the clinical and genetic characteristics, management, genetic screening, and surveillance.

Screening and surveillance for hereditary colorectal cancer

( Hee Man Kim ),( Tae Il Kim ) 대한장연구학회 2024 Intestinal Research Vol.22 No.2

Hereditary colorectal cancer is a type of cancer that is caused by a genetic mutation. Individuals with a family history of colorectal cancer, or who have a known hereditary syndrome, are at an increased risk of developing the disease. Screening and surveillance are important tools for managing the risk of hereditary colorectal cancer. Screening involves a combination of tests that can detect precancerous or cancerous changes in the colon and rectum. Surveillance involves regular follow-up examinations to monitor disease progression and to identify new developments. The frequency and type of screening and surveillance tests may vary depending on an individual’s risk factors, genetic profile, and medical history. However, early detection and treatment of hereditary colorectal cancer can significantly improve patient outcomes and reduce mortality rates. By implementing comprehensive screening and surveillance strategies, healthcare providers can help individuals at risk of hereditary colorectal cancer to receive timely interventions and make informed decisions about their health. Specific examples of screening and surveillance tests for hereditary colorectal cancer include colonoscopy, genetic testing, and imaging tests. In this review article, we will discuss detailed screening and surveillance of hereditary colorectal cancer. (Intest Res 2024;22:119-130)

한국인 유전성 비용종증 대장암의 임상적 특성

박영진,박규주,강구정,김광연,김성,김영진,김정용 대한대장항문학회 1998 Annals of Coloproctolgy Vol.14 No.1

Hereditary nonpolyposis colorectal cancer in endometrial cancer patients

Yoon, Sang Nam,Ku, Ja-Lok,Shin, Young-Kyoung,Kim, Kyung-Hee,Choi, Jin-Sung,Jang, Eun-Ja,Park, Hyoung-Chul,Kim, Duck-Woo,Kim, Min A.,Kim, Woo Ho,Lee, Taek Sang,Kim, Jae Weon,Park, Noh-Hyun,Song, Yong-S Wiley Subscription Services, Inc., A Wiley Company 2008 International journal of cancer: Journal internati Vol.122 No.5

<P>Endometrial cancer is the second most common cancer in hereditary nonpolyposis colorectal cancer (HNPCC). It has often been overlooked to explore the possibility of HNPCC in endometrial cancer patients. Our study was to investigate how many HNPCC patients existed among endometrial cancer patients. Among patients who underwent hysterectomy for endometrial cancer at Seoul National University Hospital from 1996 to 2004, 113 patients were included, whose family history and clinical data could be obtained and tumor specimens were available for microsatellite instability (MSI) testing and immunohistochemical (IHC) staining of MLH1, MSH2 and MSH6 proteins. There were 4 (3.5%) clinical HNPCC patients fulfilling the Amsterdam criteria II, and 2 (2/4, 50%) of them carried MSH2 germline mutations. There were also 8 (7.1%) suspected HNPCC (s-HNPCC) patients fulfilling the revised criteria for s-HNPCC, and one (1/8, 12.5%) of them revealed MLH1 germline mutation. In 101 patients, who were not clinical HNPCC or s-HNPCC, 11 patients showed both MSI-high and loss of expression of MLH1, MSH2 or MSH6 proteins, and 2 (2/11, 18.2%) of them showed MSH6 germline mutations. In 113 patients with endometrial cancer, we could find 5 (4.4%) HNPCC patients with MMR germline mutation and 2 (1.8%) clinical HNPCC patients without identified MMR gene mutation. Family history was critical in detecting 3 HNPCC patients with MMR germline mutation, and MSI testing with IHC staining for MLH1, MSH2 and MSH6 proteins was needed in the diagnosis of 2 HNPCC patients who were not clinical HNPCC or s-HNPCC, especially for MSH6 germline mutation. © 2007 Wiley-Liss, Inc.</P>

Knowledge of and Practice Patterns for Hereditary Colorectal Cancer Syndromes in Korean Surgical Residents

박장호,이수영,김덕우,강성범,정승용,박규주 대한대장항문학회 2013 Annals of Coloproctolgy Vol.29 No.5

Purpose: Obtaining a detailed family history through detailed pedigree is essential in recognizing hereditary colorectal cancer (CRC) syndromes. This study was performed to assess the current knowledge and practice patterns of surgery residents regarding familial risk of CRC. Methods: A questionnaire survey was performed to evaluate the knowledge and the level of recognition for analyses of family histories and hereditary CRC syndromes in 62 residents of the Department of Surgery, Seoul National University Hospital. The questionnaire consisted of 22 questions regarding practice patterns for, knowledge of, and resident education about hereditary CRC syndromes. Results: Two-thirds of the residents answered that family history should be investigated at the first interview, but only 37% of them actually obtained pedigree detailed family history at the very beginning in actual clinical practice. Three-quarters of the residents answered that the quality of family history they obtained was poor. Most of them could diagnose hereditary nonpolyposis colorectal cancer and recommend an appropriate colonoscopy surveillance schedule; however, only 19% knew that cancer surveillance guidelines differed according to the family history. Most of our residents lacked knowledge of cancer genetics, such as causative genes, and diagnostic methods, including microsatellite instability test, and indicated a desire and need for more education regarding hereditary cancer and genetic testing during residency. Conclusion: This study demonstrated that surgical residents’ knowledge of hereditary cancer was not sufficient and that the quality of the family histories obtained in current practice has to be improved. More information regarding hereditary cancer should be considered in education programs for surgery residents.

가족성 용종성 대장암 환자에서 발생한 공장암을 포함한 소화기계의 이시성 원발성 삼중암

최문선 ( Mun Sun Choi ),정현채 ( Hyun Chae Jung ) 대한장연구학회 2011 Intestinal Research Vol.9 No.2

Hereditary nonpolyposis colorectal cancer (HNPCC) is an autosomal dominant inherited disease characterized by onset at a relatively early age, an excess of synchronous and metachronous tumors, and a variety of extracolorectal malignancies. Small bowel carcinoma reported, is included in the tumor spectrum of HNPCC, but the frequency of occurrence of this tumor in HNPCC patients is comparatively rare. In Korea, several cases of multiple primary cancers in patients with HNPCC have been reported, however, primary jejunal adenocarcinoma in conjunction with multiple primary cancers in the digestive tract has rarely been reported. Recently, we evaluated a 61-year-old male diagnosed with metachronous triple primary cancers of the jejunum, stomach, and colon. We report this rare case of primary jejunal adenocarcinoma as a part of metachronous triple cancers along with a review of the relevant literature. (Intest Res 2011;9:158-161)

국내 간호사의 유전성 대장암 지식정도

최경숙(Choi Kyung Sook),김학선(Kim Hack Sun),박정애(Park Jung Ae),이주현(Lee Joohyun) 대한종양간호학회 2011 Asian Oncology Nursing Vol.11 No.2

Purpose: This study was performed to evaluate Korean nurses’ knowledge about hereditary colorectal cancer (HCRC). Methods: A modified 15-item HCRC knowledge questionnaire was developed based on previous research. One hundred and forty-eight nurses have completed the questionnaire from February to April, 2011. Results: The average score of nurses’ knowledge was 11.25±1.54. Ninety-seven percent of nurses knew about colonoscopy check up schedule and family pedigree. However, only 20% of nurses knew about the rate of passing on mutation genes to offspring and risk of developing CRC among carriers. Only 13.5% of nurses had previous genetic education experiences. Working in oncology units, taking care of CRC patients, and participating in genetic education were not associated with nurses’ HCRC knowledge. Conclusion: Various factors influence nurses’ knowledge about HCRC. Repeated study with larger national sample of nurses is recommended to identify the factors affecting nurses’ knowledge level in order to develop efficient genetic education programs for HCRC patients and their families by nurses.

Universal Screening for Lynch Syndrome Compared with Pedigree-Based Screening: 10-Year Experience in a Tertiary Hospital

김민현,김덕우,이혜승,방수경,서수현,박경운,오흥권,강성범 대한암학회 2023 Cancer Research and Treatment Vol.55 No.1

Purpose Universal screening for Lynch syndrome (LS) refers to routine tumor testing for microsatellite instability (MSI) among all patients with colorectal cancer (CRC). Despite its widespread adoption, real-world data on the yield is lacking in Korean population. We studied the yield of adopting universal screening for LS in comparison with pedigree-based screening in a tertiary center.Materials and Methods CRC patients from 2007-2018 were reviewed. Family histories were obtained and were evaluated for hereditary nonpolyposis colorectal cancer (HNPCC) using Amsterdam II criteria. Tumor testing for MSI began in 2007 and genetic testing was offered using all available clinicopathologic data. Yield of genetic testing for LS was compared for each approach and step.Results Of the 5,520 patients, tumor testing was performed in 4,701 patients (85.2%) and family histories were obtained from 4,241 patients (76.8%). Hereditary CRC (LS or HNPCC) was present in 69 patients (1.3%). MSI-high was present in 6.9%, and 25 patients had confirmed LS. Genetic testing was performed in 41.2% (47/114) of MSI-high patients, out of which 40.4% (19/47) were diagnosed with LS. There were six additional LS patients found outside of tumor testing. For pedigree-based screening, Amsterdam II criteria diagnosed 55 patients with HNPCC. Fifteen of these patients underwent genetic testing, and 11 (73.3%) were diagnosed with LS. Two patients without prior family history were diagnosed with LS and relied solely on tumor testing results.Conclusion Despite widespread adoption of routine tumor testing for MSI, this is not a fail-safe approach to screen all LS patients. Obtaining a thorough family history in combination with universal screening provides a more comprehensive ‘universal’ screening method for LS.

40세이하 대장암 환자의 임상 및 예후

김진천(Jin Cheon Kim),정춘식(Choon Sik Jeong),김창남(Chang Nam Kim),김희철(Hee Cheol Kim),유창식(Chang Sik Yu),강경훈(Gyeong Hoon Kang),박건춘(Kun Choon Park) 대한외과학회 1998 Annals of Surgical Treatment and Research Vol.55 No.4