publication . Article . 2017

A Systematic Review on the Existing Screening Pathways for Lynch Syndrome Identification

Tognetto, Alessia; Michelazzo, Maria Benedetta; Calabró, Giovanna Elisa; Unim, Brigid; Di Marco, Marco; Ricciardi, Walter; Pastorino, Roberta; Boccia, Stefania;
Open Access English
  • Published: 12 Sep 2017 Journal: Frontiers in Public Health, volume 5 (issn: 2296-2565, eissn: 2296-2565, Copyright policy)
  • Publisher: Frontiers Media S.A.
Abstract
Background Lynch syndrome (LS) is the most common hereditary colon cancer syndrome, accounting for 3–5% of colorectal cancer (CRC) cases, and it is associated with the development of other cancers. Early detection of individuals with LS is relevant, since they can take advantage of life-saving intensive care surveillance. The debate regarding the best screening policy, however, is far from being concluded. This prompted us to conduct a systematic review of the existing screening pathways for LS. Methods We performed a systematic search of MEDLINE, ISI Web of Science, and SCOPUS online databases for the existing screening pathways for LS. The eligibility criteria...
Subjects
free text keywords: microsatellite instability, colorectal cancer, cancer prevention, Lynch syndrome, screening pathways, immunohistochemistry, Systematic Review, mismatch repair genes, Public Health, hereditary colorectal cancer
Funded by
EC| PRECeDI
Project
PRECeDI
Personalized PREvention of Chronic DIseases
  • Funder: European Commission (EC)
  • Project Code: 645740
  • Funding stream: H2020 | MSCA-RISE
41 references, page 1 of 3

1 World Health Organization. Cancer. (2017). Available from: http://www.who.int/mediacentre/factsheets/fs297/en/

2 World Health Organization. International Agency for Research on Cancer (2012). Available from: http://globocan.iarc.fr

3 Hampel H Frankel WL Martin E Arnold M Khanduja K Kuebler P Feasibility of screening for lynch syndrome among patients with colorectal cancer. J Clin Oncol (2008) 26:5783–5588.10.1200/JCO.2008.17.5950 18809606 [OpenAIRE] [PubMed] [DOI]

4 Stoffel EM Mangu PB Gruber SB Hamilton SR Kalady MF Lau MW Hereditary colorectal cancer syndromes: American Society of Clinical Oncology. Clinical Practice Guideline endorsement of the familial risk-colorectal cancer: European Society for Medical Oncology Clinical Practice Guidelines. J Clin Oncol (2015) 33:209–17.10.1200/JCO.2014.58.1322 25452455 [OpenAIRE] [PubMed] [DOI]

5 Hampel H Frankel WL Martin E Arnold M Khanduja K Kuebler P Screening for the Lynch syndrome (hereditary nonpolyposis colorectal cancer). N Engl J Med (2005) 352:1851–60.10.1056/NEJMoa043146 15872200 [PubMed] [DOI]

6 Fishel R Lescoe MK Rao MR Copeland NG Jenkins NA Garber J The human mutator gene homolog hMSH2 and its association with hereditary nonpolyposis colon cancer. Cell (1993) 75:1027–38.10.1016/0092-8674(93)90546-3 8252616 [OpenAIRE] [PubMed] [DOI]

7 Leach FS Nicolaides NC Papadopoulos N Liu B Jen J Parsons R Mutations of a MutS homolog in hereditary non-polyposis colorectal cancer. Cell (1993) 75:1215–55.10.1016/0092-8674(93)90330-S 8261515 [PubMed] [DOI]

8 Papadopoulos N Nicolaides NC Wei YF Ruben SM Carter KC Rosen CA Mutation of a mutL homolog in hereditary colon cancer. Science (1994) 263:1625–9.10.1126/science.8128251 8128251 [PubMed] [DOI]

9 Bronner CE Baker SM Morrison PT Warren G Smith LG Lescoe MK Mutations in the DNA mismatch repair gene homologue hMLH1 is associated with hereditary nonpolyposis colon cancer. Nature (1994) 368:258–61.10.1038/368258a0 8145827 [PubMed] [DOI]

10 Lynch H Lynch P Lanspa S Snyder C Lynch J Boland C. Review of the Lynch syndrome: history, molecular genetics, screening, differential diagnosis, and medicolegal ramifications. Clin Genet (2009) 76(1):1–18.10.1111/j.1399-0004.2009.01230.x 19659756 [OpenAIRE] [PubMed] [DOI]

11 Nakagawa H Nagasake T Culling HM Notohara K Hoshijima N Young J Efficient molecular screening of Lynch syndrome by specific 3’ promoter methylation of the MLH1 or BRAF mutation in colorectal cancer with high-frequency microsatellite instability. Oncol Rep (2009) 21(6):1577–83.10.3892/or_00000390 19424639 [PubMed] [DOI]

12 Umar A Boland CR Terdiman JP Syngal S de la Chapelle A Rüschoff J Revised Bethesda Guidelines for hereditary nonpolyposis colorectal cancer (Lynch syndrome) and micros atellite instability. J Natl Cancer Inst (2004) 96:261–8.10.1093/jnci/djh281 14970275 [OpenAIRE] [PubMed] [DOI]

13 Vasen HF Watson P Mecklin JP Lynch HT New clinical criteria for hereditary nonpolyposis colorectal cancer (HNPCC, Lynch syndrome) proposed by the International Collaborative Group on HNPCC. Gastroenterology (1999) 116:1453–6.10.1016/S0016-5085(99)70510-X 10348829 [PubMed] [DOI]

14 Evaluation of Genomic Applications in Practice and Prevention (EGAPP) Working Group. Recommendations from the EGAPP Working Group: genetic testing strategies in newly diagnosed individuals with colorectal cancer aimed at reducing morbidity and mortality from Lynch syndrome in relatives. Genet Med (2009) 11:35–41.10.1097/GIM.0b013e31818fa2ff 19125126 [OpenAIRE] [PubMed] [DOI]

15 Ladabaum U Wang G Terdiman J Blanco A Kuppermann M Boland CR Strategies to identify the Lynch syndrome among patients with colorectal cancer: a cost-effectiveness analysis. Ann Intern Med (2011) 155(2):69–79.10.7326/0003-4819-155-2-201107190-00002 21768580 [OpenAIRE] [PubMed] [DOI]

41 references, page 1 of 3
Abstract
Background Lynch syndrome (LS) is the most common hereditary colon cancer syndrome, accounting for 3–5% of colorectal cancer (CRC) cases, and it is associated with the development of other cancers. Early detection of individuals with LS is relevant, since they can take advantage of life-saving intensive care surveillance. The debate regarding the best screening policy, however, is far from being concluded. This prompted us to conduct a systematic review of the existing screening pathways for LS. Methods We performed a systematic search of MEDLINE, ISI Web of Science, and SCOPUS online databases for the existing screening pathways for LS. The eligibility criteria...
Subjects
free text keywords: microsatellite instability, colorectal cancer, cancer prevention, Lynch syndrome, screening pathways, immunohistochemistry, Systematic Review, mismatch repair genes, Public Health, hereditary colorectal cancer
Funded by
EC| PRECeDI
Project
PRECeDI
Personalized PREvention of Chronic DIseases
  • Funder: European Commission (EC)
  • Project Code: 645740
  • Funding stream: H2020 | MSCA-RISE
41 references, page 1 of 3

1 World Health Organization. Cancer. (2017). Available from: http://www.who.int/mediacentre/factsheets/fs297/en/

2 World Health Organization. International Agency for Research on Cancer (2012). Available from: http://globocan.iarc.fr

3 Hampel H Frankel WL Martin E Arnold M Khanduja K Kuebler P Feasibility of screening for lynch syndrome among patients with colorectal cancer. J Clin Oncol (2008) 26:5783–5588.10.1200/JCO.2008.17.5950 18809606 [OpenAIRE] [PubMed] [DOI]

4 Stoffel EM Mangu PB Gruber SB Hamilton SR Kalady MF Lau MW Hereditary colorectal cancer syndromes: American Society of Clinical Oncology. Clinical Practice Guideline endorsement of the familial risk-colorectal cancer: European Society for Medical Oncology Clinical Practice Guidelines. J Clin Oncol (2015) 33:209–17.10.1200/JCO.2014.58.1322 25452455 [OpenAIRE] [PubMed] [DOI]

5 Hampel H Frankel WL Martin E Arnold M Khanduja K Kuebler P Screening for the Lynch syndrome (hereditary nonpolyposis colorectal cancer). N Engl J Med (2005) 352:1851–60.10.1056/NEJMoa043146 15872200 [PubMed] [DOI]

6 Fishel R Lescoe MK Rao MR Copeland NG Jenkins NA Garber J The human mutator gene homolog hMSH2 and its association with hereditary nonpolyposis colon cancer. Cell (1993) 75:1027–38.10.1016/0092-8674(93)90546-3 8252616 [OpenAIRE] [PubMed] [DOI]

7 Leach FS Nicolaides NC Papadopoulos N Liu B Jen J Parsons R Mutations of a MutS homolog in hereditary non-polyposis colorectal cancer. Cell (1993) 75:1215–55.10.1016/0092-8674(93)90330-S 8261515 [PubMed] [DOI]

8 Papadopoulos N Nicolaides NC Wei YF Ruben SM Carter KC Rosen CA Mutation of a mutL homolog in hereditary colon cancer. Science (1994) 263:1625–9.10.1126/science.8128251 8128251 [PubMed] [DOI]

9 Bronner CE Baker SM Morrison PT Warren G Smith LG Lescoe MK Mutations in the DNA mismatch repair gene homologue hMLH1 is associated with hereditary nonpolyposis colon cancer. Nature (1994) 368:258–61.10.1038/368258a0 8145827 [PubMed] [DOI]

10 Lynch H Lynch P Lanspa S Snyder C Lynch J Boland C. Review of the Lynch syndrome: history, molecular genetics, screening, differential diagnosis, and medicolegal ramifications. Clin Genet (2009) 76(1):1–18.10.1111/j.1399-0004.2009.01230.x 19659756 [OpenAIRE] [PubMed] [DOI]

11 Nakagawa H Nagasake T Culling HM Notohara K Hoshijima N Young J Efficient molecular screening of Lynch syndrome by specific 3’ promoter methylation of the MLH1 or BRAF mutation in colorectal cancer with high-frequency microsatellite instability. Oncol Rep (2009) 21(6):1577–83.10.3892/or_00000390 19424639 [PubMed] [DOI]

12 Umar A Boland CR Terdiman JP Syngal S de la Chapelle A Rüschoff J Revised Bethesda Guidelines for hereditary nonpolyposis colorectal cancer (Lynch syndrome) and micros atellite instability. J Natl Cancer Inst (2004) 96:261–8.10.1093/jnci/djh281 14970275 [OpenAIRE] [PubMed] [DOI]

13 Vasen HF Watson P Mecklin JP Lynch HT New clinical criteria for hereditary nonpolyposis colorectal cancer (HNPCC, Lynch syndrome) proposed by the International Collaborative Group on HNPCC. Gastroenterology (1999) 116:1453–6.10.1016/S0016-5085(99)70510-X 10348829 [PubMed] [DOI]

14 Evaluation of Genomic Applications in Practice and Prevention (EGAPP) Working Group. Recommendations from the EGAPP Working Group: genetic testing strategies in newly diagnosed individuals with colorectal cancer aimed at reducing morbidity and mortality from Lynch syndrome in relatives. Genet Med (2009) 11:35–41.10.1097/GIM.0b013e31818fa2ff 19125126 [OpenAIRE] [PubMed] [DOI]

15 Ladabaum U Wang G Terdiman J Blanco A Kuppermann M Boland CR Strategies to identify the Lynch syndrome among patients with colorectal cancer: a cost-effectiveness analysis. Ann Intern Med (2011) 155(2):69–79.10.7326/0003-4819-155-2-201107190-00002 21768580 [OpenAIRE] [PubMed] [DOI]

41 references, page 1 of 3
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publication . Article . 2017

A Systematic Review on the Existing Screening Pathways for Lynch Syndrome Identification

Tognetto, Alessia; Michelazzo, Maria Benedetta; Calabró, Giovanna Elisa; Unim, Brigid; Di Marco, Marco; Ricciardi, Walter; Pastorino, Roberta; Boccia, Stefania;