Research Topics
Genomes and Genes | N M LindorSummaryAffiliation: Mayo Clinic Country: USA Publications
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Publications
Immunohistochemistry versus microsatellite instability testing in phenotyping colorectal tumorsNoralane M Lindor
Department of Medical Genetics, Mayo Foundation, Rochester, MN 55905, USA
J Clin Oncol 20:1043-8. 2002..To compare microsatellite instability (MSI) testing with immunohistochemical (IHC) detection of hMLH1 and hMSH2 in colorectal cancer...
Hereditary colorectal cancer: MYH-associated polyposis and other newly identified disordersNoralane M Lindor
Department of Medical Genetics, Mayo Clinic College of Medicine, Rochester, MN 55905, USA
Best Pract Res Clin Gastroenterol 23:75-87. 2009..Knowledge of these entities may assist clinicians to recognize and manage cases that do not fit into the more common syndromes of colorectal cancer predisposition...
Birt-Hogg-Dube syndrome presenting as multiple oncocytic parotid tumorsNoralane M Lindor
Department of Health Science Research, Mayo Clinic Arizona
Hered Cancer Clin Pract 10:13. 2012..We present a woman referred for genetic evaluation due to bilateral parotid gland tumors, who was subsequently diagnosed with Birt-Hogg-Dubé syndrome...- Multiple jejunal cancers resulting from combination of germline APC and MLH1 mutationsNoralane M Lindor
Department of Health Science Research, Mayo Clinic Arizona, 13400 E Scottsdale Blvd, Scottsdale, AZ 85259, USA
Fam Cancer 11:667-9. 2012..It may be useful for clinicians to be aware of this observation as clinical screening guidelines are proposed for such individuals... - Common breast cancer susceptibility alleles are associated with tumour subtypes in BRCA1 and BRCA2 mutation carriers: results from the Consortium of Investigators of Modifiers of BRCA1/2Anna Marie Mulligan
Centre for Cancer Genetic Epidemiology, Department of Public Health and Primary Care, University of Cambridge, 2 Worts Causeway, Cambridge, CB1 8RN, UK
Breast Cancer Res 13:R110. 2011..It is currently unknown how these alleles are associated with different breast cancer subtypes in BRCA1 and BRCA2 mutation carriers defined by estrogen (ER) or progesterone receptor (PR) status of the tumour... - Colorectal tumour microsatellite instability test results: perspectives from patientsNoralane M Lindor
Department of Medical Genetics, Mayo Foundation, Rochester, Minnesota
Hered Cancer Clin Pract 2:69-75. 2004..We were also interested in the patients' reasons for choosing to learn their results and in the impact of those results on overall self-assessed quality of life... - Tenascin-X deficiency in autosomal recessive Ehlers-Danlos syndromeNoralane M Lindor
Department of Medical Genetics, Mayo Clinic College of Medicine, 200 First Street SW, Rochester, MN 55905, USA
Am J Med Genet A 135:75-80. 2005..Significant medical problems occurring in these individuals included severe diverticular intestinal disease, mitral valve prolapse requiring valve replacement, and obstructive airway disease... - Parent of origin effects on age at colorectal cancer diagnosisNoralane M Lindor
Department of Medical Genetics, Mayo Clinic, Rochester, MN, USA
Int J Cancer 127:361-6. 2010.... - Familial colorectal cancer type X: the other half of hereditary nonpolyposis colon cancer syndromeNoralane M Lindor
Department of Medical Genetics, Mayo Clinic, Rochester, MN 55905, USA
Surg Oncol Clin N Am 18:637-45. 2009..Familial colorectal cancer type X is the name used to refer to the "other half of HNPCC"... - Multiple primary tumors associated with chromosome 9p deletionNoralane M Lindor
Department of Medical Genetics, Mayo Clinic College of Medicine, Rochester, Minnesota, USA
Am J Med Genet A 143:95-7. 2007 - Recognition of genetic syndromes in families with suspected hereditary colon cancer syndromesNoralane M Lindor
Department of Medical Genetics, Mayo Clinic, Rochester, Minnesota, USA
Clin Gastroenterol Hepatol 2:366-75. 2004 - Predicting BRCA1 and BRCA2 gene mutation carriers: comparison of LAMBDA, BRCAPRO, Myriad II, and modified Couch modelsNoralane M Lindor
Department of Medical Genetics, Mayo Clinic College of Medicine, Rochester, MN 55905, USA
Fam Cancer 6:473-82. 2007..Models have been developed to predict the probability that a person carries a detectable germline mutation in the BRCA1 or BRCA2 genes. Their relative performance in a clinical setting is unclear... - Predicting BRCA1 and BRCA2 gene mutation carriers: comparison of PENN II model to previous studyNoralane M Lindor
The Department of Medical Genetics, Mayo Clinic College of Medicine, 200 First Street SW, Rochester, MN 55905, USA
Fam Cancer 9:495-502. 2010..7%. PENN II model for BRCA1/2 prediction performed well in this population with higher AUC compared with our experience using four other models. The ease of use of the PENNII model is compatible with busy clinical practices... - Confirmation of existence of a new syndrome: LAPS syndromeNoralane M Lindor
Department of Medical Genetics, Mayo Clinic, Rochester, Minnesota 55905, USA
Am J Med Genet 109:93-9. 2002.... - Primary appendiceal mucinous adenocarcinoma in two first-degree relatives: case report and reviewAdrianne R Racek
Department of Medical Genetics, Mayo Clinic, 200 First Street SW, Rochester, 55905, MN, USA
Hered Cancer Clin Pract 9:1. 2011..The occurrence of appendiceal cancer in siblings may represent a random occurrence. An exceedingly rare predisposition syndrome cannot be ruled out... - Lower cancer incidence in Amsterdam-I criteria families without mismatch repair deficiency: familial colorectal cancer type XNoralane M Lindor
Department of Medical Genetics, Mayo Clinic, Rochester, Minn, USA
JAMA 293:1979-85. 2005..Cancer incidence in AC-I families with MMR gene mutations is reported to be very high, but cancer incidence for individuals in AC-I families with no evidence of an MMR defect is unknown... - Rothmund-Thomson syndrome due to RECQ4 helicase mutations: report and clinical and molecular comparisons with Bloom syndrome and Werner syndromeN M Lindor
Department of Medical Genetics, Mayo Clinic, Rochester, Minnesota 55905, USA
Am J Med Genet 90:223-8. 2000..These three disorders all manifest abnormal growth, premature aging, and predisposition to site-specific malignancies. The clinical and molecular aspects of RTS, Bloom syndrome, and Werner syndrome are compared and contrasted... - Ascending the learning curve--MSI testing experience of a six-laboratory consortiumNoralane M Lindor
Department of Medical Genetics, Mayo Clinic, Rochester, MN 55905, USA
Cancer Biomark 2:5-9. 2006..The aim of this paper is to share lessons learned and to describe the final concordance rates in scoring MSI markers within this consortium... - Alpha-1-antitrypsin deficiency and smoking as risk factors for mismatch repair deficient colorectal cancer: a study from the colon cancer family registryNoralane M Lindor
Department of Medical Genetics, Mayo Clinic, 200 First Street SW, Rochester, MN 55905, USA
Mol Genet Metab 99:157-9. 2010..No difference in frequency of A1AT deficiency alleles was found between cases and controls, irrespective of the MSI subtype... - Pancreatic cancer and a novel MSH2 germline alterationNoralane M Lindor
Department of Medical Genetics and Department of Health Science Research, Mayo Clinic, Rochester, MN 55905, USA
Pancreas 40:1138-40. 2011..The objective of this study was to describe a novel MSH2 missense alteration cosegregating with pancreatic cancer... - Papillary renal cell carcinoma: analysis of germline mutations in the MET proto-oncogene in a clinic-based populationN M Lindor
Department of Medical Genetics, Mayo Clinic, Rochester, MN 55905, USA
Genet Test 5:101-6. 2001..MET proto-oncogene germline mutation screening does not appear to be clinically indicated in patients with PRCC without additional evidence for a genetic predisposition (positive family history, unusual age at onset, bilateral disease)... - Higher risk of mismatch repair-deficient colorectal cancer in alpha(1)-antitrypsin deficiency carriers and cigarette smokersP Yang
Department of Health Sciences Research, Department of Laboratory Medicine and Pathology, Department of Medical Genetics, Mayo Clinic and Foundation, 200 First Street SW, Rochester, Minnesota 55905, USA
Mol Genet Metab 71:639-45. 2000..Our findings suggest an etiologic link between alpha(1)ATD alleles and development of CRC with defective MMR, and a synergistic effect between smoking and alpha(1)ATD allele in the development of MSI-H CRC... - A search for germline APC mutations in early onset colorectal cancer or familial colorectal cancer with normal DNA mismatch repairL A Boardman
Division of Gastroenterology and Hepatology, Mayo Clinic, Rochester, Minnesota 55905, USA
Genes Chromosomes Cancer 30:181-6. 2001..All appeared to be polymorphisms present in similar proportions in an average-risk population. We conclude that germline APC mutations do not account for familial MSS (stable microsatellite) CRC associated with few synchronous polyps... - Microsatellite instability and mutation analysis of hMSH2 and hMLH1 in patients with sporadic, familial and hereditary colorectal cancerG Moslein
Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, Minnesota, USA
Hum Mol Genet 5:1245-52. 1996..On the other hand, we could not identify mutations in the subset of clinically defined HNPCC patients with MIN negative tumors nor in the majority (6/7) of MIN+ sporadic tumors... - Alpha1-antitrypsin deficiency allele carriers among lung cancer patientsP Yang
Mayo Clinic and Foundation, Rochester, Minnesota 55905, USA
Cancer Epidemiol Biomarkers Prev 8:461-5. 1999..9% and 23.8%, P < or = 0.01, respectively). Our preliminary findings suggest that individuals who carry an alpha1AD allele may have an increased risk for developing LC, specifically squamous cell or bronchoalveolar carcinoma... - Colorectal cancer risks in relatives of young-onset cases: is risk the same across all first-degree relatives?Lisa A Boardman
Division of Gastroenterology, Department of Internal Medicine, Mayo Clinic College of Medicine, Rochester, Minnesota, USA
Clin Gastroenterol Hepatol 5:1195-8. 2007..However, for young-onset microsatellite stable (MSS) CRC, the familial risk for CRC is unknown... - The APC E1317Q variant in adenomatous polyps and colorectal cancersD Hahnloser
Division of Colon and Rectal Surgery, Mayo Clinic, Rochester, Minnesota 55905, USA
Cancer Epidemiol Biomarkers Prev 12:1023-8. 2003..These results underscore the importance of carefully defining the controls to be used in comparisons of allele frequencies... - Frequency of loss of hMLH1 expression in colorectal carcinoma increases with advancing ageSanjay Kakar
Department of Pathology, Mayo Clinic, Rochester, Minnesota 55905, USA
Cancer 97:1421-7. 2003..The correlation between age at diagnosis and loss of expression of hMLH1 protein in patients with colorectal carcinoma (CRC) has not been evaluated systematically... - p73 mutations are not detected in sporadic and hereditary breast cancerD I Schwartz
Department of Laboratory Medicine and Pathology, Mayo Foundation, Rochester, MN 55905, USA
Breast Cancer Res Treat 58:25-9. 1999..Eleven common polymorphisms scattered throughout the gene were also detected. Thus, mutations in the p73 gene appear to play little if any role in hereditary or sporadic breast cancer... - Guidelines for buccal smear collection in breast-fed infantsD Babovic-Vuksanovic
Department of Medical Genetics, Mayo Clinic and Mayo Foundation, Rochester, Minnesota 55905, USA
Am J Med Genet 84:357-60. 1999..In addition, prior to sample collection, buccal mucosa should be cleaned thoroughly with a cotton swab applicator. The same guidelines are applicable to older nursing infants... - Selective antibody immune deficiency in a patient with Smith-Lemli-Opitz syndromeD Babovic-Vuksanovic
Department of Medical Genetics, Mayo Clinic, Rochester, Minnesota 55905, USA
J Inherit Metab Dis 28:181-6. 2005..Early recognition and appropriate therapeutic interventions may decrease the severity of infections, prevent potentially fatal infections, and eventually improve the quality of life in these patients... - Application of multicolor fluorescent in situ hybridization for enhanced characterization of chromosomal abnormalities in congenital disordersS M Jalal
Division of Laboratory Genetics, Mayo Clinic, 200 First St SW, Rochester, MN 55905, USA
Mayo Clin Proc 76:16-21. 2001..Six representative cases involving derivative chromosomes, markers, and subtle anomalies were analyzed by M-FISH... - Lower gastrointestinal tract cancer predisposition syndromesNeel B Shah
Department of Medical Genetics, Mayo Clinic, 200 First Street SW, Rochester, MN 55905, USA
Hematol Oncol Clin North Am 24:1229-52. 2010..Since the l980s, the genetics of several clinically distinct entities has been revealed. Five disorders that share a hereditary predisposition to CRC are reviewed in this article... - Microduplication 22q11.2, an emerging syndrome: clinical, cytogenetic, and molecular analysis of thirteen patientsRegina E Ensenauer
Department of Medical Genetics, Mayo Clinic, Rochester, MN 55905, USA
Am J Hum Genet 73:1027-40. 2003..Although the present series of patients was ascertained because of some overlapping features with DG/VCF syndromes, the microduplication of 22q11.2 appears to be a new syndrome... - Germline TGF-beta receptor mutations and skeletal fragility: a report on two patients with Loeys-Dietz syndromeSalman Kirmani
Department of Medical Genetics, Mayo Clinic, Rochester, Minnesota 55905, USA
Am J Med Genet A 152:1016-9. 2010..Osteopenia or osteoporosis may become increasingly important issues as earlier detection and treatment of the vascular complications of LDS improves life expectancy in these patients... - Heterozygous Niemann-Pick disease type C presenting with tremorKeith A Josephs
Department of Neurology, Mayo Clinic and Mayo Foundation, Rochester, MN 55905, USA
Neurology 63:2189-90. 2004 - Identification and Management of Women With BRCA Mutations or Hereditary Predisposition for Breast and Ovarian CancerSandhya Pruthi
Division of General Internal Medicine, Mayo Clinic, 200 First St SW, Rochester, MN 55905, USA
Mayo Clin Proc 85:1111-20. 2010..A multidisciplinary approach offers the ability to educate those at very high risk about cancer prevention, reduce cancer risk, maximize early detection of breast and ovarian cancer, and improve survival... - Malignant melanoma in the 21st century: the emerging molecular landscapeAleksandar Sekulic
Department of Dermatology, Mayo Clinic, Scottsdale, AZ 85259, USA
Mayo Clin Proc 83:825-46. 2008..We review the emerging molecular landscape of melanoma and its implications for better management of patients with melanoma... - Nonmosaic smallest duplication of 12q24.31-qter: the first reported caseJulie Won Ireland
Department of Medical Genetics, Mayo Clinic, Rochester, Minnesota 55905, USA
Am J Med Genet A 128:305-10. 2004..This case is compared with 13 other reported cases with a duplication of the 12q terminal segment... - MYH mutations in patients with attenuated and classic polyposis and with young-onset colorectal cancer without polypsLiang Wang
Department of Laboratory Medicine, Mayo Clinic College of Medicine, Rochester, Minnesota 55905, USA
Gastroenterology 127:9-16. 2004.... - Higher frequency of diploidy in young-onset microsatellite-stable colorectal cancerLisa A Boardman
Department of Gastroenterology, Mayo Clinic College of Medicine, Rochester, Minnesota 55905, USA
Clin Cancer Res 13:2323-8. 2007..The clinicopathologic features of MSS CIN- CRC are not well delineated. We assessed the relationship between age and chromosomal instability (CIN) status as measured by ploidy and allelic imbalance in a series of MSS tumors... - Desmoid tumors in familial adenomatous polyposis: a pilot project evaluating efficacy of treatment with pirfenidoneN M Lindor
Department of Medical Genetics, Mayo Clinic, Scottsdale, Arizona, USA
Am J Gastroenterol 98:1868-74. 2003.... - Germline E-cadherin gene mutations: is prophylactic total gastrectomy indicated?Y S Chun
Department of Surgery, Mayo Clinic, Rochester, Minnesota 55905, USA
Cancer 92:181-7. 2001..Germline CDH1 mutations recently were identified in families with hereditary diffuse gastric carcinoma in a pattern suggestive of autosomal dominant inheritance with incomplete penetrance... - Progressive extensive osteoma cutis associated with dysmorphic features: a new syndrome? Case report and review of the literatureM D P Davis
Department of Dermatology, Mayo Clinic, 200 First Street SW, Rochester, MN 55905, USA
Br J Dermatol 146:1075-80. 2002..The differential diagnosis for this entity is presented. This phenotype may be a previously undescribed syndrome... - Recommendations for the care of individuals with an inherited predisposition to Lynch syndrome: a systematic reviewNoralane M Lindor
Department of Medical Genetics, Mayo Clinic College of Medicine, Rochester, Minn, USA
JAMA 296:1507-17. 2006..Current recommendations regarding cancer screening and prevention require careful consultation between clinicians, clinical cancer genetic services, and well-informed patients... - Determining the frequency of de novo germline mutations in DNA mismatch repair genesAung Ko Win
Department of Medical Genetics, Mayo Foundation, 200 First Street SW, Rochester, MN 55905, USA
J Med Genet 48:530-4. 2011..This study reports a case series of de novo mutations in MMR genes and estimates the frequency of de novo mutation in MMR genes using the Colon Cancer Family Registry... - Hereditary disorders of connective tissue: a guide to the emerging differential diagnosisMaureen Murphy-Ryan
Mayo Medical School, Rochester, Minnesota, USA
Genet Med 12:344-54. 2010..To create a practical desk reference for clinicians focused on the differential diagnosis of individuals presenting with features that suggest an inherited disorder of connective tissue... - Premutations in the FMR1 gene are uncommon in men undergoing genetic testing for spinocerebellar ataxiaSara A Adams
Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, Minnesota, USA
J Neurogenet 22:77-92. 2008..This study is in agreement with other similar studies and supports recommendations that testing be considered only if there are additional supporting clinical features indicating that a possible FMR1 premutation may be involved... - The spectrum, management and clinical outcome of Ehlers-Danlos syndrome type IV: a 30-year experienceGustavo S Oderich
Division of Vascular Surgery and Department of Medical Genetics, Mayo Clinic, USA
J Vasc Surg 42:98-106. 2005..Despite successful repair of vascular complications, survival was shortened because of secondary vascular or graft-related complications... - Bilateral hip dislocation and pubic diastasis in familial nail-patella syndromeDavid J Jacofsky
Department of Orthopedics, Mayo Clinic and Mayo Foundation, Rochester, Minn 55905, USA
Orthopedics 26:329-30. 2003 - Risks of Lynch syndrome cancers for MSH6 mutation carriersLaura Baglietto
Cancer Epidemiology Centre, Victorian Cancer Registry, Carlton, Victoria, Australia
J Natl Cancer Inst 102:193-201. 2010..Germline mutations in MSH6 account for 10%-20% of Lynch syndrome colorectal cancers caused by hereditary DNA mismatch repair gene mutations. Because there have been only a few studies of mutation carriers, their cancer risks are uncertain... - Revised Bethesda Guidelines for hereditary nonpolyposis colorectal cancer (Lynch syndrome) and microsatellite instabilityAsad Umar
Division of Cancer Prevention, National Cancer Institute, National Institutes of Health, Department of Health and Human Services, Bethesda, MD 20892, USA
J Natl Cancer Inst 96:261-8. 2004.... - Conversion analysis for mutation detection in MLH1 and MSH2 in patients with colorectal cancerGraham Casey
Department of Cancer Biology, Cleveland Clinic Lerner College of Medicine, Cleveland, Ohio 44195, USA
JAMA 293:799-809. 2005..Current data suggest that mismatch repair mutations are highly heterogeneous and that many mutations are not detected when conventional DNA sequencing alone is used... - Pathology features in Bethesda guidelines predict colorectal cancer microsatellite instability: a population-based studyMark A Jenkins
Centre for Molecular, Environmental, Genetic and Analytic Epidemiology, University of Melbourne, Parkville, Victoria, Australia
Gastroenterology 133:48-56. 2007..Our aim was to identify pathology and other features that independently predict high MSI (MSI-H)... - The clinical phenotype of Lynch syndrome due to germ-line PMS2 mutationsLeigha Senter
Human Cancer Genetics Program, The Ohio State University Comprehensive Cancer Center, Columbus, Ohio, USA
Gastroenterology 135:419-28. 2008..Information about the clinical significance of PMS2 mutations is crucial for appropriate counseling. Here, we report the clinical characteristics of a large series of PMS2 mutation carriers... - Prediction of germline mutations and cancer risk in the Lynch syndromeSining Chen
Department of Environmental Health Sciences, Johns Hopkins Bloomberg School of Public Health, Baltimore, MD 21205, USA
JAMA 296:1479-87. 2006..Current clinical guidelines are effective but limited by applicability and cost... - Isolated loss of PMS2 expression in colorectal cancers: frequency, patient age, and familial aggregationSharlene Gill
British Columbia Cancer Agency, Vancouver, British Columbia, Canada
Clin Cancer Res 11:6466-71. 2005..Rarely, there is selective loss of PMS2 expression. We sought to describe the frequency and clinical correlates of selective loss of expression of PMS2 with the MSI-H tumor phenotype... - Germline duplication of chromosomes 10p15.3 and Yp11.32 in a man with learning disability and early onset cutaneous malignant melanomaErcan Mihci
Akdeniz University School of Medicine, Division of Clinical Genetics, Department of Pediatrics, Antalya, Turkey
Am J Med Genet A 146:2298-300. 2008 - Desmoid tumors -- a characterization of patients seen at Mayo Clinic 1976-1999Taya Fallen
Cancer Genetics Program, Department of Medicine, Division of Hematology/Oncology, Northwestern Medical Faculty Foundation, Chicago, IL, USA
Fam Cancer 5:191-4. 2006..Using Bayesian analysis, we demonstrate how these findings can assist genetic professionals in their evaluation of patients with desmoid tumors by providing prior probabilities of FAP based upon clinical presentation... - Mutations in CD2BP1 disrupt binding to PTP PEST and are responsible for PAPA syndrome, an autoinflammatory disorderCarol A Wise
Sarah M and Charles E Seay Center for Musculoskeletal Research, Texas Scottish Rite Hospital for Children, Dallas, TX, USA
Hum Mol Genet 11:961-9. 2002..This CD2BP1-mediated biochemical pathway(s) may function in common inflammatory disorders with apparent etiological overlap, such as rheumatoid arthritis and inflammatory bowel disease...
Research Grants
- FAMILIAL COLORECTAL NEOPLASIA COLLABORATIVE GROUPNoralane Lindor; Fiscal Year: 2007..fs20\par \par } ..