Risks of Lynch syndrome cancers for MSH6 mutation carriers.

PubWeight™: 2.56‹?› | Rank: Top 1%

🔗 View Article (PMC 2815724)

Published in J Natl Cancer Inst on December 22, 2009

Authors

Laura Baglietto1, Noralane M Lindor, James G Dowty, Darren M White, Anja Wagner, Encarna B Gomez Garcia, Annette H J T Vriends, Dutch Lynch Syndrome Study Group, Nicola R Cartwright, Rebecca A Barnetson, Susan M Farrington, Albert Tenesa, Heather Hampel, Daniel Buchanan, Sven Arnold, Joanne Young, Michael D Walsh, Jeremy Jass, Finlay Macrae, Yoland Antill, Ingrid M Winship, Graham G Giles, Jack Goldblatt, Susan Parry, Graeme Suthers, Barbara Leggett, Malinda Butz, Melyssa Aronson, Jenny N Poynter, John A Baron, Loic Le Marchand, Robert Haile, Steve Gallinger, John L Hopper, John Potter, Albert de la Chapelle, Hans F Vasen, Malcolm G Dunlop, Stephen N Thibodeau, Mark A Jenkins

Author Affiliations

1: Cancer Epidemiology Centre, Victorian Cancer Registry, Carlton, Victoria, Australia.

Articles citing this

Application of a 5-tiered scheme for standardized classification of 2,360 unique mismatch repair gene variants in the InSiGHT locus-specific database. Nat Genet (2013) 3.27

ACG clinical guideline: Genetic testing and management of hereditary gastrointestinal cancer syndromes. Am J Gastroenterol (2015) 3.19

Common variation near CDKN1A, POLD3 and SHROOM2 influences colorectal cancer risk. Nat Genet (2012) 3.19

Risks of colorectal and other cancers after endometrial cancer for women with Lynch syndrome. J Natl Cancer Inst (2013) 3.06

Revised guidelines for the clinical management of Lynch syndrome (HNPCC): recommendations by a group of European experts. Gut (2013) 2.86

Risks of primary extracolonic cancers following colorectal cancer in lynch syndrome. J Natl Cancer Inst (2012) 2.44

Metachronous colorectal cancer risk for mismatch repair gene mutation carriers: the advantage of more extensive colon surgery. Gut (2010) 2.30

Colorectal and other cancer risks for carriers and noncarriers from families with a DNA mismatch repair gene mutation: a prospective cohort study. J Clin Oncol (2012) 2.22

Risk of colorectal and endometrial cancers in EPCAM deletion-positive Lynch syndrome: a cohort study. Lancet Oncol (2010) 1.98

The PREMM(1,2,6) model predicts risk of MLH1, MSH2, and MSH6 germline mutations based on cancer history. Gastroenterology (2010) 1.88

DNA replication fidelity and cancer. Semin Cancer Biol (2010) 1.69

Cumulative impact of common genetic variants and other risk factors on colorectal cancer risk in 42,103 individuals. Gut (2012) 1.52

PMS2 monoallelic mutation carriers: the known unknown. Genet Med (2015) 1.44

Implementing screening for Lynch syndrome among patients with newly diagnosed colorectal cancer: summary of a public health/clinical collaborative meeting. Genet Med (2011) 1.37

The inherited genetics of ovarian and endometrial cancer. Curr Opin Genet Dev (2010) 1.32

Risk of urothelial bladder cancer in Lynch syndrome is increased, in particular among MSH2 mutation carriers. J Med Genet (2010) 1.30

Prospective study of family history and colorectal cancer risk by tumor LINE-1 methylation level. J Natl Cancer Inst (2012) 1.24

Evaluation of Lynch syndrome modifier genes in 748 MMR mutation carriers. Eur J Hum Genet (2011) 1.21

Cancer risk in Lynch Syndrome. Fam Cancer (2013) 1.19

Colorectal cancer: molecular features and clinical opportunities. Clin Biochem Rev (2010) 1.19

A multifactorial likelihood model for MMR gene variant classification incorporating probabilities based on sequence bioinformatics and tumor characteristics: a report from the Colon Cancer Family Registry. Hum Mutat (2012) 1.14

Current clinical criteria for Lynch syndrome are not sensitive enough to identify MSH6 mutation carriers. J Med Genet (2010) 1.11

Risk of breast cancer in Lynch syndrome: a systematic review. Breast Cancer Res (2013) 1.08

Breast carcinoma and Lynch syndrome: molecular analysis of tumors arising in mutation carriers, non-carriers, and sporadic cases. Breast Cancer Res (2012) 1.05

Frequency of deletions of EPCAM (TACSTD1) in MSH2-associated Lynch syndrome cases. J Mol Diagn (2010) 1.04

Risk of metachronous colon cancer following surgery for rectal cancer in mismatch repair gene mutation carriers. Ann Surg Oncol (2013) 1.03

Somatic POLE mutations cause an ultramutated giant cell high-grade glioma subtype with better prognosis. Neuro Oncol (2015) 0.97

Body mass index in early adulthood and endometrial cancer risk for mismatch repair gene mutation carriers. Obstet Gynecol (2011) 0.95

Clinical Application of Multigene Panels: Challenges of Next-Generation Counseling and Cancer Risk Management. Front Oncol (2015) 0.95

History, genetics, and strategies for cancer prevention in Lynch syndrome. Clin Gastroenterol Hepatol (2013) 0.95

Body mass index in early adulthood and colorectal cancer risk for carriers and non-carriers of germline mutations in DNA mismatch repair genes. Br J Cancer (2011) 0.93

Replicative DNA polymerase δ but not ε proofreads errors in Cis and in Trans. PLoS Genet (2015) 0.92

Are the common genetic variants associated with colorectal cancer risk for DNA mismatch repair gene mutation carriers? Eur J Cancer (2013) 0.92

Female Hormonal Factors and the Risk of Endometrial Cancer in Lynch Syndrome. JAMA (2015) 0.90

Application of molecular diagnostics for the detection of Lynch syndrome. Expert Rev Mol Diagn (2010) 0.89

Genetic testing for lynch syndrome in individuals newly diagnosed with colorectal cancer to reduce morbidity and mortality from colorectal cancer in their relatives. PLoS Curr (2011) 0.88

Determining the frequency of de novo germline mutations in DNA mismatch repair genes. J Med Genet (2011) 0.88

Germline multi-gene hereditary cancer panel testing in an unselected endometrial cancer cohort. Mod Pathol (2016) 0.87

Endometrial and ovarian cancer in women with Lynch syndrome: update in screening and prevention. Fam Cancer (2013) 0.86

Combined Microsatellite Instability, MLH1 Methylation Analysis, and Immunohistochemistry for Lynch Syndrome Screening in Endometrial Cancers From GOG210: An NRG Oncology and Gynecologic Oncology Group Study. J Clin Oncol (2015) 0.86

The genetic basis of Lynch syndrome and its implications for clinical practice and risk management. Appl Clin Genet (2014) 0.84

Immunohistochemical testing of conventional adenomas for loss of expression of mismatch repair proteins in Lynch syndrome mutation carriers: a case series from the Australasian site of the colon cancer family registry. Mod Pathol (2012) 0.84

Surgical treatment of hereditary nonpolyposis colorectal cancer (HNPCC, Lynch syndrome). Fam Cancer (2013) 0.84

Hereditary colon cancer: lynch syndrome. Gut Liver (2010) 0.83

Update on Lynch syndrome genomics. Fam Cancer (2016) 0.81

MSH6 and PMS2 mutation positive Australian Lynch syndrome families: novel mutations, cancer risk and age of diagnosis of colorectal cancer. Hered Cancer Clin Pract (2010) 0.81

Is there a role for prophylactic colectomy in Lynch syndrome patients with inflammatory bowel disease? Int J Colorectal Dis (2015) 0.81

Characterization of two Ashkenazi Jewish founder mutations in MSH6 gene causing Lynch syndrome. Clin Genet (2010) 0.80

Genetic testing strategies in newly diagnosed endometrial cancer patients aimed at reducing morbidity or mortality from lynch syndrome in the index case or her relatives. PLoS Curr (2013) 0.80

Advances in the study of Lynch syndrome in China. World J Gastroenterol (2015) 0.80

Germline truncating-mutations in BRCA1 and MSH6 in a patient with early onset endometrial cancer. BMC Cancer (2012) 0.79

Phenotypic heterogeneity of hereditary gynecologic cancers: a report from the Creighton hereditary cancer registry. Fam Cancer (2013) 0.78

Familial cancer among consecutive uterine cancer patients in Sweden. Hered Cancer Clin Pract (2014) 0.78

Perceived versus predicted risks of colorectal cancer and self-reported colonoscopies by members of mismatch repair gene mutation-carrying families who have declined genetic testing. J Genet Couns (2013) 0.78

The founder Ashkenazi Jewish mutations in the MSH2 and MSH6 genes in Israeli patients with gastric and pancreatic cancer. Fam Cancer (2012) 0.78

Molecular pathogenesis of endometrial cancers in patients with Lynch syndrome. Cancer (2013) 0.78

Prevalence and Penetrance of Major Genes and Polygenes for Colorectal Cancer. Cancer Epidemiol Biomarkers Prev (2016) 0.78

Association of MSH6 mutation with glioma susceptibility, drug resistance and progression. Mol Clin Oncol (2016) 0.77

Functional analysis in mouse embryonic stem cells reveals wild-type activity for three MSH6 variants found in suspected Lynch syndrome patients. PLoS One (2013) 0.76

CoDP: predicting the impact of unclassified genetic variants in MSH6 by the combination of different properties of the protein. J Biomed Sci (2013) 0.76

RNASeq analysis reveals biological processes governing the clinical behaviour of endometrioid and serous endometrial cancers. Eur J Cancer (2016) 0.75

Alcohol Consumption and the Risk of Colorectal Cancer in Mismatch Repair Gene Mutation Carriers. Cancer Epidemiol Biomarkers Prev (2016) 0.75

Incidental placenta increta at the time of prophylactic hysterectomy for Lynch syndrome: Insights into individualized decision-making and surgical timing. Gynecol Oncol Rep (2015) 0.75

A comparison between Lynch syndrome and sporadic colorectal cancer survivors' satisfaction with their healthcare providers. Cancer Med (2017) 0.75

Genetic testing for Lynch syndrome: family communication and motivation. Fam Cancer (2016) 0.75

Triple synchronous primary malignancies of the colon, endometrium and kidney in a patient with Lynch syndrome treated via minimally invasive techniques. Gynecol Oncol Rep (2016) 0.75

Recurrent and founder mutations in the PMS2 gene. Clin Genet (2012) 0.75

Lynch syndrome and cervical cancer. Int J Cancer (2015) 0.75

Pain evaluation during gynaecological surveillance in women with Lynch syndrome. Fam Cancer (2016) 0.75

Whole Gene Capture Analysis of 15 CRC Susceptibility Genes in Suspected Lynch Syndrome Patients. PLoS One (2016) 0.75

Clinical and Molecular Characterization of Brazilian Patients Suspected to Have Lynch Syndrome. PLoS One (2015) 0.75

Hereditary cancer registries improve the care of patients with a genetic predisposition to cancer: contributions from the Dutch Lynch syndrome registry. Fam Cancer (2016) 0.75

Hereditary gynaecologic cancers in Nepal: a proposed model of care to serve high risk populations in developing countries. Hered Cancer Clin Pract (2017) 0.75

Identification of a novel MSH6 germline variant in a family with multiple gastro-intestinal malignancies by next generation sequencing. Fam Cancer (2015) 0.75

Uptake of genetic testing by the children of Lynch syndrome variant carriers across three generations. Eur J Hum Genet (2017) 0.75

A novel heterozygous germline deletion in MSH2 gene in a five generation Chinese family with Lynch syndrome. Oncotarget (2017) 0.75

Loss of Mismatch Repair Protein Expression in Unselected Endometrial Adenocarcinoma Precursor Lesions. Int J Gynecol Cancer (2016) 0.75

Endometrial cancer gene panels: clinical diagnostic vs research germline DNA testing. Mod Pathol (2017) 0.75

Lynch Syndrome in high risk Ashkenazi Jews in Israel. Fam Cancer (2014) 0.75

Articles cited by this

Screening for colorectal cancer: U.S. Preventive Services Task Force recommendation statement. Ann Intern Med (2008) 16.82

New clinical criteria for hereditary nonpolyposis colorectal cancer (HNPCC, Lynch syndrome) proposed by the International Collaborative group on HNPCC. Gastroenterology (1999) 11.94

Screening for the Lynch syndrome (hereditary nonpolyposis colorectal cancer). N Engl J Med (2005) 9.39

Cancer risk in mutation carriers of DNA-mismatch-repair genes. Int J Cancer (1999) 6.73

Diagnostic markers for early detection of ovarian cancer. Clin Cancer Res (2008) 6.47

Colon Cancer Family Registry: an international resource for studies of the genetic epidemiology of colon cancer. Cancer Epidemiol Biomarkers Prev (2007) 6.00

Immunohistochemistry versus microsatellite instability testing in phenotyping colorectal tumors. J Clin Oncol (2002) 5.91

Feasibility of screening for Lynch syndrome among patients with colorectal cancer. J Clin Oncol (2008) 5.47

Identification and survival of carriers of mutations in DNA mismatch-repair genes in colon cancer. N Engl J Med (2006) 4.95

Recommendations for the care of individuals with an inherited predisposition to Lynch syndrome: a systematic review. JAMA (2006) 4.87

Guidelines for the clinical management of Lynch syndrome (hereditary non-polyposis cancer). J Med Genet (2007) 4.62

Prediction of germline mutations and cancer risk in the Lynch syndrome. JAMA (2006) 4.34

Screening for Lynch syndrome (hereditary nonpolyposis colorectal cancer) among endometrial cancer patients. Cancer Res (2006) 4.26

Cancer risk associated with germline DNA mismatch repair gene mutations. Hum Mol Genet (1997) 3.41

The clinical phenotype of Lynch syndrome due to germ-line PMS2 mutations. Gastroenterology (2008) 3.35

Use of molecular tumor characteristics to prioritize mismatch repair gene testing in early-onset colorectal cancer. J Clin Oncol (2005) 3.19

Prospective determination of prevalence of lynch syndrome in young women with endometrial cancer. J Clin Oncol (2007) 3.13

Cancer risk in hereditary nonpolyposis colorectal cancer due to MSH6 mutations: impact on counseling and surveillance. Gastroenterology (2004) 2.90

Lower incidence of colorectal cancer and later age of disease onset in 27 families with pathogenic MSH6 germline mutations compared with families with MLH1 or MSH2 mutations: the German Hereditary Nonpolyposis Colorectal Cancer Consortium. J Clin Oncol (2004) 2.55

Risk of colorectal and endometrial cancer for carriers of mutations of the hMLH1 and hMSH2 gene: correction for ascertainment. J Med Genet (2005) 2.45

Cancer risks for mismatch repair gene mutation carriers: a population-based early onset case-family study. Clin Gastroenterol Hepatol (2006) 2.12

Hereditary Non-Polyposis Colorectal Cancer: the rise and fall of a confusing term. World J Gastroenterol (2006) 1.70

Surveillance for endometrial cancer in hereditary nonpolyposis colorectal cancer syndrome. Int J Cancer (2007) 1.67

Evidence for autosomal dominant inheritance of prostate cancer. Am J Hum Genet (1998) 1.63

Penetrance and expressivity of MSH6 germline mutations in seven kindreds not ascertained by family history. Am J Hum Genet (2004) 1.57

Atypical HNPCC owing to MSH6 germline mutations: analysis of a large Dutch pedigree. J Med Genet (2001) 1.51

Comment on: Screening for Lynch Syndrome (Hereditary Nonpolyposis Colorectal Cancer) among Endometrial Cancer Patients. Cancer Res (2007) 1.38

Toward new strategies to select young endometrial cancer patients for mismatch repair gene mutation analysis. J Clin Oncol (2003) 1.31

Diagnostic approach and management of Lynch syndrome (hereditary nonpolyposis colorectal carcinoma): a guide for clinicians. CA Cancer J Clin (2006) 1.29

Hereditary non-polyposis colorectal cancer: current risks of colorectal cancer largely overestimated. J Med Genet (2002) 1.24

Screening for urinary tract cancer with urine cytology in Lynch syndrome and familial colorectal cancer. Fam Cancer (2008) 1.01

Two Swedish founder MSH6 mutations, one nonsense and one missense, conferring high cumulative risk of Lynch syndrome. Clin Genet (2005) 0.99

Analysis of hMLH1 and hMSH2 gene dosage alterations in hereditary nonpolyposis colorectal cancer patients by novel methods. J Mol Diagn (2005) 0.95

Germline MSH6 mutations are more prevalent in endometrial cancer patient cohorts than hereditary non polyposis colorectal cancer cohorts. Ulster Med J (2008) 0.93

Remarks on ascertainment. Genet Epidemiol (1989) 0.82

Articles by these authors

Genome-wide association study identifies novel breast cancer susceptibility loci. Nature (2007) 29.23

International network of cancer genome projects. Nature (2010) 20.35

Cardiovascular events associated with rofecoxib in a colorectal adenoma chemoprevention trial. N Engl J Med (2005) 15.46

Multiple newly identified loci associated with prostate cancer susceptibility. Nat Genet (2008) 15.43

Revised Bethesda Guidelines for hereditary nonpolyposis colorectal cancer (Lynch syndrome) and microsatellite instability. J Natl Cancer Inst (2004) 14.97

Multiple regions within 8q24 independently affect risk for prostate cancer. Nat Genet (2007) 14.37

CpG island methylator phenotype underlies sporadic microsatellite instability and is tightly associated with BRAF mutation in colorectal cancer. Nat Genet (2006) 13.63

PD-1 Blockade in Tumors with Mismatch-Repair Deficiency. N Engl J Med (2015) 13.08

Tumor microsatellite-instability status as a predictor of benefit from fluorouracil-based adjuvant chemotherapy for colon cancer. N Engl J Med (2003) 12.17

Hereditary colorectal cancer. N Engl J Med (2003) 11.86

Effect of calcium supplements on risk of myocardial infarction and cardiovascular events: meta-analysis. BMJ (2010) 10.85

Common variants on chromosomes 2q35 and 16q12 confer susceptibility to estrogen receptor-positive breast cancer. Nat Genet (2007) 10.81

Genome-wide association scan identifies a colorectal cancer susceptibility locus on chromosome 8q24. Nat Genet (2007) 9.88

Epigenetic stem cell signature in cancer. Nat Genet (2006) 9.62

Screening for the Lynch syndrome (hereditary nonpolyposis colorectal cancer). N Engl J Med (2005) 9.39

Cancer risk in 680,000 people exposed to computed tomography scans in childhood or adolescence: data linkage study of 11 million Australians. BMJ (2013) 9.38

The role of microRNA genes in papillary thyroid carcinoma. Proc Natl Acad Sci U S A (2005) 8.60

Large-scale genotyping identifies 41 new loci associated with breast cancer risk. Nat Genet (2013) 8.24

Folic acid for the prevention of colorectal adenomas: a randomized clinical trial. JAMA (2007) 7.93

Common variants on chromosome 5p12 confer susceptibility to estrogen receptor-positive breast cancer. Nat Genet (2008) 7.65

Celecoxib for the prevention of sporadic colorectal adenomas. N Engl J Med (2006) 7.62

A common coding variant in CASP8 is associated with breast cancer risk. Nat Genet (2007) 7.35

Newly discovered breast cancer susceptibility loci on 3p24 and 17q23.2. Nat Genet (2009) 7.30

A randomized trial of aspirin to prevent colorectal adenomas in patients with previous colorectal cancer. N Engl J Med (2003) 6.99

Meta-analysis of genome-wide association data identifies four new susceptibility loci for colorectal cancer. Nat Genet (2008) 6.97

Defective mismatch repair as a predictive marker for lack of efficacy of fluorouracil-based adjuvant therapy in colon cancer. J Clin Oncol (2010) 6.87

Long-term effect of aspirin on cancer risk in carriers of hereditary colorectal cancer: an analysis from the CAPP2 randomised controlled trial. Lancet (2011) 6.77

Genome-wide association scan identifies a colorectal cancer susceptibility locus on 11q23 and replicates risk loci at 8q24 and 18q21. Nat Genet (2008) 6.75

Guidelines for colorectal cancer screening and surveillance in moderate and high risk groups (update from 2002). Gut (2010) 6.34

A genome-wide association study identifies colorectal cancer susceptibility loci on chromosomes 10p14 and 8q23.3. Nat Genet (2008) 6.26

Heterogeneity of breast cancer associations with five susceptibility loci by clinical and pathological characteristics. PLoS Genet (2008) 6.22

Heritability of mammographic density, a risk factor for breast cancer. N Engl J Med (2002) 6.19

Common sequence variants on 2p15 and Xp11.22 confer susceptibility to prostate cancer. Nat Genet (2008) 6.10

Subtyping of breast cancer by immunohistochemistry to investigate a relationship between subtype and short and long term survival: a collaborative analysis of data for 10,159 cases from 12 studies. PLoS Med (2010) 6.04

Identification of seven new prostate cancer susceptibility loci through a genome-wide association study. Nat Genet (2009) 6.04

Colon Cancer Family Registry: an international resource for studies of the genetic epidemiology of colon cancer. Cancer Epidemiol Biomarkers Prev (2007) 6.00

SLC2A9 is a newly identified urate transporter influencing serum urate concentration, urate excretion and gout. Nat Genet (2008) 5.93

Immunohistochemistry versus microsatellite instability testing in phenotyping colorectal tumors. J Clin Oncol (2002) 5.91

Multiple loci with different cancer specificities within the 8q24 gene desert. J Natl Cancer Inst (2008) 5.82

Identification of 23 new prostate cancer susceptibility loci using the iCOGS custom genotyping array. Nat Genet (2013) 5.58

Feasibility of screening for Lynch syndrome among patients with colorectal cancer. J Clin Oncol (2008) 5.47

Iron-overload-related disease in HFE hereditary hemochromatosis. N Engl J Med (2008) 5.43

Runs of homozygosity in European populations. Am J Hum Genet (2008) 5.34

Common SNP in pre-miR-146a decreases mature miR expression and predisposes to papillary thyroid carcinoma. Proc Natl Acad Sci U S A (2008) 5.29

Aspirin and non-steroidal anti-inflammatory drugs for cancer prevention: an international consensus statement. Lancet Oncol (2009) 5.05

Breast-cancer risk in families with mutations in PALB2. N Engl J Med (2014) 4.97

A locus on 19p13 modifies risk of breast cancer in BRCA1 mutation carriers and is associated with hormone receptor-negative breast cancer in the general population. Nat Genet (2010) 4.96

Identification and survival of carriers of mutations in DNA mismatch-repair genes in colon cancer. N Engl J Med (2006) 4.95

Inheritance of a cancer-associated MLH1 germ-line epimutation. N Engl J Med (2007) 4.87