Lynch HT, Smyrk T. Hereditary nonpolyposis colorectal cancer (Lynch syndrome). An updated review. Cancer. 1996;78(6):1149–67.
CAS PubMed Article Google Scholar
Cohen SA, Leininger A. The genetic basis of Lynch syndrome and its implications for clinical practice and risk management. Appl Clin Genet. 2014;7:147–58.
PubMed PubMed Central Article CAS Google Scholar
Lynch HT, Shaw MW, Magnuson CW, Larsen AL, Krush AJ. Hereditary factors in cancer. Study of two large midwestern kindreds. Arch Intern Med. 1966;117(2):206–12.
CAS PubMed Article Google Scholar
Vasen HFA, Blanco I, Aktan-Collan K, Gopie JP, Alonso A, Aretz S, et al. Revised guidelines for the clinical management of Lynch syndrome (HNPCC): recommendations by a group of European experts. Gut. 2013;62(6):812.
CAS PubMed Article Google Scholar
Giardiello FM, Allen JI, Axilbund JE, Boland CR, Burke CA, Burt RW, et al. Guidelines on genetic evaluation and management of Lynch syndrome: a consensus statement by the US multi-society task force on colorectal cancer. Gastroenterology. 2014;147(2):502–26.
Latham A, Srinivasan P, Kemel Y, Shia J, Bandlamudi C, Mandelker D, et al. Microsatellite instability is associated with the presence of Lynch syndrome pan-cancer. J Clin Oncol. 2019;37(4):286–95.
CAS PubMed Article Google Scholar
Samadder NJ, Smith KR, Wong J, Thomas A, Hanson H, Boucher K, et al. Cancer risk in families fulfilling the Amsterdam criteria for Lynch syndrome. JAMA Oncol. 2017;3(12):1697–701.
PubMed PubMed Central Article Google Scholar
EviQ: MMR genes (Lynch syndrome) – risk management Australia: Cancer Institute NSW; 2009 [updated 06/17/2019. 1410 v.9:[Available from: https://www.eviq.org.au/cancer-genetics/adult/risk-management/1410-mmr-genes-lynch-syndrome-risk-management
Carethers JM. Differentiating Lynch-like from Lynch syndrome. Gastroenterology. 2014;146(3):602–4.
Rodríguez-Soler M, Pérez-Carbonell L, Guarinos C, Zapater P, Castillejo A, Barberá VM, et al. Risk of cancer in cases of suspected Lynch syndrome without germline mutation. Gastroenterology. 2013;144(5):926–32.
PubMed Article CAS Google Scholar
Hampel H, Pearlman R, de la Chapelle A, Pritchard CC, Zhao W, Jones D, et al. Double somatic mismatch repair gene pathogenic variants as common as Lynch syndrome among endometrial cancer patients. Gynecol Oncol. 2021;160(1):161–8.
CAS PubMed Article Google Scholar
Wang T, Lee LH, Vyas M, Zhang L, Ganesh K, Firat C, et al. Colorectal carcinoma with double somatic mismatch repair gene inactivation: clinical and pathological characteristics and response to immune checkpoint blockade. Mod Pathol. 2019;32(10):1551–62.
CAS PubMed PubMed Central Article Google Scholar
Hemminger JA, Pearlman R, Haraldsdottir S, Knight D, Jonasson JG, Pritchard CC, et al. Histology of colorectal adenocarcinoma with double somatic mismatch-repair mutations is indistinguishable from those caused by Lynch syndrome. Hum Pathol. 2018;78:125–30.
PubMed PubMed Central Article Google Scholar
Bucksch K, Zachariae S, Aretz S, Büttner R, Holinski-Feder E, Holzapfel S, et al. Cancer risks in Lynch syndrome, Lynch-like syndrome, and familial colorectal cancer type X: a prospective cohort study. BMC Cancer. 2020;20(1):460.
CAS PubMed PubMed Central Article Google Scholar
Gordhandas S, Kahn R, Maddy BP, Nelson BB, Askin G, Christos PJ, et al. Lynch-like syndrome in endometrial cancer: features of a growing population. J Clin Oncol. 2019;37:5585.
Picó MD, Castillejo A, Murcia Ó, Giner-Calabuig M, Alustiza M, Sánchez A, et al. Clinical and pathological characterization of Lynch-like syndrome. Clin Gastroenterol Hepatol. 2020;18(2):368–74.
Gupta S, Weiss JM, Axell L, Burke CA, Chen L, Chung DC, et al. National Comprehensive Cancer Network (NCCN) clinical practice guidelines in oncology: genetic/familial high-risk assessment: colorectal National Comprehensive Cancer Network; 2021 [1.2021:[Available from: https://www.nccn.org/guidelines/guidelines-detail?category=2&id=1436
Leggett B, Poplawski N, Rosty C, Norton I, Wright C, Aung KW, et al. Cancer Council Australia colorectal cancer guidelines working party. Guidelines: Colorectal cancer/Lynch syndrome. In: Clinical practice guidelines for the prevention, early detection and management of colorectal cancer.: Sydney: Cancer Council Australia.; 2017 [updated 12/11/2017. Available from: https://wiki.cancer.org.au/australia/Guidelines:Colorectal_cancer/Lynch_syndrome
Katz LH, Burton-Chase AM, Advani S, Fellman B, Polivka KM, Yuan Y, et al. Screening adherence and cancer risk perceptions in colorectal cancer survivors with Lynch-like syndrome. Clin Genet. 2016;89(3):392–8.
CAS PubMed Article Google Scholar
Omark J, Vilar E, You YN, Dunnington L, Noblin S, Stevens B, et al. Patients with unexplained mismatch repair deficiency are interested in updated genetic testing. Hered Cancer Clin Pract. 2020;18(1):19.
PubMed PubMed Central Article Google Scholar
Katz LH, Advani S, Burton-Chase AM, Fellman B, Polivka KM, Yuan Y, et al. Cancer screening behaviors and risk perceptions among family members of colorectal cancer patients with unexplained mismatch repair deficiency. Familial Cancer. 2017;16(2):231–7.
CAS PubMed PubMed Central Article Google Scholar
Cachia M, Millward L. The telephone medium and semi-structured interviews: a complementary fit. Q Res Org Manag. 2011;6:265–77.
NVivo software Version 12: QSR International Pty Ltd. 2018 [Available from: https://www.qsrinternational.com/nvivo/trial.
Nowell LS, Norris JM, White DE, Moules NJ. Thematic analysis: striving to meet the trustworthiness criteria. Int J Qual Methods. 2017;16(1):1609406917733847.
Clarke V, Braun V. Using thematic analysis in counselling and psychotherapy research: a critical reflection. Couns Psychother Res. 2018;18(2):107–10.
Braun V, Clarke V. Thematic analysis. APA handbook Res Methods Psychol. 2012;2:55–71.
Braun V, Clarke V, Rance N. How to use thematic analysis with interview data (process research). The Counselling & Psychotherapy Research Handbook. 1 ed: Sage; 2014.
Saunders B, Sim J, Kingstone T, Baker S, Waterfield J, Bartlam B, et al. Saturation in qualitative research: exploring its conceptualization and operationalization. Qual Quant. 2018;52(4):1893–907.
Soslow RA, Tornos C, Park KJ, Malpica A, Matias-Guiu X, Oliva E, et al. Endometrial carcinoma diagnosis: use of FIGO grading and genomic subcategories in clinical practice: recommendations of the International Society of Gynecological Pathologists. Int J Gynecol Pathol. 2019;38(1 Suppl 1):S64.
Tan YY, Fitzgerald LJ. Barriers and motivators for referral of patients with suspected lynch syndrome to cancer genetic services: a qualitative study. J Pers Med. 2014;4(1):20–34.
PubMed PubMed Central Article Google Scholar
Solomon I, Harrington E, Hooker G, Erby L, Axilbund J, Hampel H, et al. Lynch syndrome limbo: patient understanding of variants of uncertain significance. J Genet Couns. 2017;26(4):866–77.
Grover S, Stoffel EM, Mercado RC, Ford BM, Kohlman WK, Shannon KM, et al. Colorectal cancer risk perception on the basis of genetic test results in individuals at risk for Lynch syndrome. J Clin Oncol. 2009;27:3981–6.
PubMed PubMed Central Article Google Scholar
Robb KA, Miles A, Wardle J. Perceived risk of colorectal cancer: sources of risk judgments. Cancer Epidemiol Biomarkers Prev. 2007;16(4):694–702.
Colorectal Cancer: Follow-up care: ASCO Cancer. Net 2021 [Available from: https://www.cancer.net/cancer-types/colorectal-cancer/follow-care.
Koenig J, Trees A. Finding meaning in difficult family experiences: sense-making and interaction processes during joint family storytelling. J Fam Commun. 2006;6(1):49–76.
Taylor DP, Cannon-Albright LA, Sweeney C, Williams MS, Haug PJ, Mitchell JA, et al. Comparison of compliance for colorectal cancer screening and surveillance by colonoscopy based on risk. Genet Med. 2011;13(8):737–43.
Seah M, Tan S. Am I breast cancer smart? Assessing breast cancer knowledge among healthcare professionals. Singap Med J. 2007;48(2):158–62.
van Dijk S, Otten W, Timmermans DRM, van Asperen CJ, Meijers-Heijboer H, Tibben A, et al. What’s the message? Interpretation of an uninformative BRCA1/2 test result for women at risk of familial breast cancer. Genet Med. 2005;7(4):239–45.
Rothwell PM, Wilson M, Elwin CE, Norrving B, Algra A, Warlow CP, et al. Long-term effect of aspirin on colorectal cancer incidence and mortality: 20-year follow-up of five randomised trials. Lancet. 2010;376(9754):1741–50.
CAS PubMed Article Google Scholar
Burn J, Sheth H, Elliott F, Reed L, Macrae F, Mecklin J-P, et al. Cancer prevention with aspirin in hereditary colorectal cancer (Lynch syndrome), 10-year follow-up and registry-based 20-year data in the CAPP2 study: a double-blind, randomised, placebo-controlled trial. Lancet. 2020;395(10240):1855–63.
CAS PubMed PubMed Central Article Google Scholar
Jenkins MA, Ait Ouakrim D, Boussioutas A, Hopper JL, Ee HC, Emery JD, et al. Revised Australian national guidelines for colorectal cancer screening: family history. Med J Aust. 2018;209(10):455–60.
EviQ: Colorectal cancer (moderately increased risk) – risk management: Cancer Institute NSW; 2014 [updated 03/29/2019. 1425 v.6:[Available from: https://www.eviq.org.au/cancer-genetics/adult/risk-management/1425-colorectal-cancer-moderately-increased-risk#cancer-tumour-risk-management-guidelines.
Monahan KJ, Bradshaw N, Dolwani S, Desouza B, Dunlop MG, East JE, et al. Guidelines for the management of hereditary colorectal cancer from the British Society of Gastroenterology (BSG)/Association of Coloproctology of Great Britain and Ireland (ACPGBI)/United Kingdom Cancer genetics group (UKCGG). Gut. 2020;69(3):411.
CAS PubMed Article Google Scholar
Byers HM, Jacobson A, McFaddin AS, Ussakli CH, Newlin A, Stanich PP, et al. Postmortem somatic sequencing of tumors from patients with suspected Lynch syndrome has clinical utility for surviving relatives. JCO Precis Oncol. 2018;2:1–7.
留言 (0)