| Year |
Citation |
Score |
| 2024 |
Parsons MT, de la Hoya M, Richardson ME, Tudini E, Anderson M, Berkofsky-Fessler W, Caputo SM, Chan RC, Cline MS, Feng BJ, Fortuno C, Gomez-Garcia E, Hadler J, Hiraki S, Holdren M, ... ... Tavtigian S, et al. Evidence-based recommendations for gene-specific ACMG/AMP variant classification from the ClinGen ENIGMA BRCA1 and BRCA2 Variant Curation Expert Panel. American Journal of Human Genetics. PMID 39142283 DOI: 10.1016/j.ajhg.2024.07.013 |
0.31 |
|
| 2024 |
Richardson ME, Holdren M, Brannan T, de la Hoya M, Spurdle AB, Tavtigian SV, Young CC, Zec L, Hiraki S, Anderson MJ, Walker LC, McNulty S, Turnbull C, Tischkowitz M, Schon K, et al. Specifications of the ACMG/AMP variant curation guidelines for the analysis of germline sequence variants. Medrxiv : the Preprint Server For Health Sciences. PMID 38854136 DOI: 10.1101/2024.05.28.24307502 |
0.336 |
|
| 2023 |
Spier I, Yin X, Richardson M, Pineda M, Laner A, Ritter D, Boyle J, Mur P, Hansen TVO, Shi X, Mahmood K, Plazzer JP, Ognedal E, Nordling M, Farrington SM, ... ... Tavtigian SV, et al. Gene-specific ACMG/AMP classification criteria for germline APC variants: recommendations from the ClinGen InSiGHT Hereditary Colorectal Cancer / Polyposis Variant Curation Expert Panel. Genetics in Medicine : Official Journal of the American College of Medical Genetics. 100992. PMID 37800450 DOI: 10.1016/j.gim.2023.100992 |
0.348 |
|
| 2022 |
Holowatyj AN, Washington MK, Tavtigian SV, Eng C, Horton C. Inherited Cancer Susceptibility Gene Sequence Variations Among Patients With Appendix Cancer. Jama Oncology. PMID 36368039 DOI: 10.1001/jamaoncol.2022.5425 |
0.351 |
|
| 2022 |
Dumont M, Weber-Lassalle N, Joly-Beauparlant C, Ernst C, Droit A, Feng BJ, Dubois S, Collin-Deschesnes AC, Soucy P, Vallée M, Fournier F, Lemaçon A, Adank MA, Allen J, Altmüller J, ... ... Tavtigian S, et al. Uncovering the Contribution of Moderate-Penetrance Susceptibility Genes to Breast Cancer by Whole-Exome Sequencing and Targeted Enrichment Sequencing of Candidate Genes in Women of European Ancestry. Cancers. 14. PMID 35884425 DOI: 10.3390/cancers14143363 |
0.412 |
|
| 2021 |
Brooks JD, Nabi HH, Andrulis IL, Antoniou AC, Chiquette J, Després P, Devilee P, Dorval M, Droit A, Easton DF, Eisen A, Eloy L, Fienberg S, Goldgar D, Hahnen E, ... ... Tavtigian SV, et al. Personalized Risk Assessment for Prevention and Early Detection of Breast Cancer: Integration and Implementation (PERSPECTIVE I&I). Journal of Personalized Medicine. 11. PMID 34199804 DOI: 10.3390/jpm11060511 |
0.315 |
|
| 2021 |
Steely CJ, Russell KL, Feusier JE, Qiao Y, Tavtigian SV, Marth G, Jorde LB. Mobile element insertions and associated structural variants in longitudinal breast cancer samples. Scientific Reports. 11: 13020. PMID 34158539 DOI: 10.1038/s41598-021-92444-0 |
0.363 |
|
| 2021 |
Lesueur F, Easton DF, Renault AL, Tavtigian SV, Bernstein JL, Kote-Jarai Z, Eeles RA, Plaseska-Karanfia D, Feliubadaló L, Arun B, Herold N, Versmold B, Schmutzler RK, Nguyen-Dumont T, Southey MC, et al. First international workshop of the ATM and cancer risk group (4-5 December 2019). Familial Cancer. PMID 34125377 DOI: 10.1007/s10689-021-00248-y |
0.365 |
|
| 2020 |
Cannon-Albright LA, Teerlink CC, Stevens J, Snow AK, Thompson BA, Bell R, Nguyen KN, Sargent NR, Kohlmann WK, Neklason DW, Tavtigian SV. FANCM c5791C>T stopgain mutation (rs144567652) is a familial colorectal cancer risk factor. Molecular Genetics & Genomic Medicine. e1532. PMID 33118316 DOI: 10.1002/mgg3.1532 |
0.343 |
|
| 2019 |
Li C, Liu T, Tavtigian SV, Boucher K, Kohlmann W, Cannon-Albright L, Grossman D. Targeted germline sequencing of patients with three or more primary melanomas reveals high rate of pathogenic variants. Melanoma Research. PMID 31567591 DOI: 10.1097/Cmr.0000000000000645 |
0.306 |
|
| 2019 |
Parsons MT, Tudini E, Li H, Hahnen E, Wappenschmidt B, Feliubadaló L, Aalfs CM, Agata S, Aittomäki K, Alducci E, Alonso-Cerezo MC, Arnold N, Auber B, Austin R, Azzollini J, ... ... Tavtigian SV, et al. Large scale multifactorial likelihood quantitative analysis of BRCA1 and BRCA2 variants: An ENIGMA resource to support clinical variant classification. Human Mutation. PMID 31131967 DOI: 10.1002/Humu.23818 |
0.366 |
|
| 2019 |
Colonna S, Curtin K, Johnson E, Kohlmann W, Wright J, Kirchhoff A, Tavtigian S, Schiffman J. Family History of Breast Cancer Associated with Breast Cancer in Survivors of Hodgkin Lymphoma. International Journal of Cancer and Clinical Research. 6. PMID 30976660 DOI: 10.23937/2378-3419/1410107 |
0.321 |
|
| 2019 |
Spurdle AB, Greville-Heygate S, Antoniou AC, Brown M, Burke L, de la Hoya M, Domchek S, Dörk T, Firth HV, Monteiro AN, Mensenkamp A, Parsons MT, Radice P, Robson M, Tischkowitz M, ... ... Tavtigian S, et al. Towards controlled terminology for reporting germline cancer susceptibility variants: an ENIGMA report. Journal of Medical Genetics. PMID 30962250 DOI: 10.1136/Jmedgenet-2018-105872 |
0.439 |
|
| 2019 |
Fortuno C, Cipponi A, Ballinger ML, Tavtigian SV, Olivier M, Ruparel V, Haupt Y, Haupt S, International Sarcoma Kindred Study, Tucker K, Spurdle AB, Thomas DM, James PA. A quantitative model to predict pathogenicity of missense variants in the TP53 gene. Human Mutation. PMID 30840781 DOI: 10.1002/Humu.23739 |
0.309 |
|
| 2019 |
Valle L, Vilar E, Tavtigian SV, Stoffel EM. Genetic predisposition to colorectal cancer: syndromes, genes, classification of genetic variants and implications for precision medicine. The Journal of Pathology. 247: 574-588. PMID 30584801 DOI: 10.1002/path.5229 |
0.349 |
|
| 2018 |
Cline MS, Liao RG, Parsons MT, Paten B, Alquaddoomi F, Antoniou A, Baxter S, Brody L, Cook-Deegan R, Coffin A, Couch FJ, Craft B, Currie R, Dlott CC, Dolman L, ... ... Tavtigian S, et al. BRCA Challenge: BRCA Exchange as a global resource for variants in BRCA1 and BRCA2. Plos Genetics. 14: e1007752. PMID 30586411 DOI: 10.1371/Journal.Pgen.1007752 |
0.386 |
|
| 2018 |
Young EL, Thompson BA, Neklason DW, Firpo MA, Werner T, Bell R, Berger J, Fraser A, Gammon A, Koptiuch C, Kohlmann WK, Neumayer L, Goldgar DE, Mulvihill SJ, Cannon-Albright LA, ... Tavtigian SV, et al. Pancreatic cancer as a sentinel for hereditary cancer predisposition. Bmc Cancer. 18: 697. PMID 29945567 DOI: 10.1186/s12885-018-4573-5 |
0.332 |
|
| 2017 |
Li J, Li H, Makunin I, Thompson BA, Tao K, Young EL, Lopez J, Camp NJ, Tavtigian SV, John EM, Andrulis IL, Khanna KK, Goldgar D, Chenevix-Trench G. Panel sequencing of 264 candidate susceptibility genes and segregation analysis in a cohort of non-BRCA1, non-BRCA2 breast cancer families. Breast Cancer Research and Treatment. PMID 28840378 DOI: 10.1007/S10549-017-4469-0 |
0.428 |
|
| 2017 |
Young EL, Maese L, Robinson R, Pflieger L, Moore B, Rynearson S, Fowler T, Tavtigian SV, Yandell M, Mason CC, Hawkins DS, Lupo PJ, Schiffman JD. Abstract 2704: Pathogenic mutations and variants of unknown significance (VUS) in cancer predisposition genes are associated with over 10% of pediatric rhabdomyosarcoma: a report from the Children’s Oncology Group Cancer Research. 77: 2704-2704. DOI: 10.1158/1538-7445.Am2017-2704 |
0.37 |
|
| 2016 |
Southey MC, Goldgar DE, Winqvist R, Pylkäs K, Couch F, Tischkowitz M, Foulkes WD, Dennis J, Michailidou K, van Rensburg EJ, Heikkinen T, Nevanlinna H, Hopper JL, Dörk T, Claes KB, ... ... Tavtigian SV, et al. PALB2, CHEK2 and ATM rare variants and cancer risk: data from COGS. Journal of Medical Genetics. PMID 27595995 DOI: 10.1136/jmedgenet-2016-103839 |
0.383 |
|
| 2016 |
Renault AL, Lesueur F, Coulombe Y, Gobeil S, Soucy P, Hamdi Y, Desjardins S, Le Calvez-Kelm F, Vallée M, Voegele C, Hopper JL, Andrulis IL, Southey MC, John EM, ... ... Tavtigian SV, et al. ABRAXAS (FAM175A) and Breast Cancer Susceptibility: No Evidence of Association in the Breast Cancer Family Registry. Plos One. 11: e0156820. PMID 27270457 DOI: 10.1371/Journal.Pone.0156820 |
0.442 |
|
| 2016 |
Palmero EI, Alemar B, Schüler-Faccini L, Hainaut P, Moreira-Filho CA, Ewald IP, Santos PK, Ribeiro PL, Oliveira Netto CB, Kelm FL, Tavtigian S, Cossio SL, Giugliani R, Caleffi M, Ashton-Prolla P. Screening for germline BRCA1, BRCA2, TP53 and CHEK2 mutations in families at-risk for hereditary breast cancer identified in a population-based study from Southern Brazil. Genetics and Molecular Biology. PMID 27223485 DOI: 10.1590/1678-4685-Gmb-2014-0363 |
0.52 |
|
| 2016 |
Easton DF, Lesueur F, Decker B, Michailidou K, Li J, Allen J, Luccarini C, Pooley KA, Shah M, Bolla MK, Wang Q, Dennis J, Ahmad J, Thompson ER, Damiola F, ... ... Tavtigian SV, et al. No evidence that protein truncating variants in BRIP1 are associated with breast cancer risk: implications for gene panel testing. Journal of Medical Genetics. PMID 26921362 DOI: 10.1136/Jmedgenet-2015-103529 |
0.398 |
|
| 2016 |
Vallée MP, Sera TL, Nix DA, Paquette AM, Parsons MT, Bell R, Hoffman A, Hogervorst FB, Goldgar DE, Spurdle AB, Tavtigian SV. Adding In Silico Assessment of Potential Splice Aberration to the Integrated Evaluation of BRCA Gene Unclassified Variants. Human Mutation. PMID 26913838 DOI: 10.1002/humu.22973 |
0.355 |
|
| 2016 |
Jensen JD, Holton AE, Krakow M, Weaver J, Donovan E, Tavtigian S. Colorectal cancer prevention and intentions to use low-dose aspirin: A survey of 1000 U.S. adults aged 40-65. Cancer Epidemiology. 41: 99-105. PMID 26895085 DOI: 10.1016/J.Canep.2016.02.003 |
0.344 |
|
| 2015 |
Easton DF, Pharoah PD, Antoniou AC, Tischkowitz M, Tavtigian SV, Nathanson KL, Devilee P, Meindl A, Couch FJ, Southey M, Goldgar DE, Evans DG, Chenevix-Trench G, Rahman N, Robson M, et al. Gene-panel sequencing and the prediction of breast-cancer risk. The New England Journal of Medicine. 372: 2243-57. PMID 26014596 DOI: 10.1056/Nejmsr1501341 |
0.476 |
|
| 2015 |
Jhuraney A, Velkova A, Johnson RC, Kessing B, Carvalho RS, Whiley P, Spurdle AB, Vreeswijk MP, Caputo SM, Millot GA, Vega A, Coquelle N, Galli A, Eccles D, Blok MJ, ... ... Tavtigian SV, et al. BRCA1 Circos: a visualisation resource for functional analysis of missense variants. Journal of Medical Genetics. 52: 224-30. PMID 25643705 DOI: 10.1136/Jmedgenet-2014-102766 |
0.447 |
|
| 2015 |
Colonna SV, Curtin K, Kohlmann W, Wright JA, Tavtigian S, Schiffman JD. Family history of breast cancer in Hodgkin disease and future risk for breast cancer. Journal of Clinical Oncology. 33: 1522-1522. DOI: 10.1200/Jco.2015.33.15_Suppl.1522 |
0.387 |
|
| 2014 |
Park DJ, Tao K, Le Calvez-Kelm F, Nguyen-Dumont T, Robinot N, Hammet F, Odefrey F, Tsimiklis H, Teo ZL, Thingholm LB, Young EL, Voegele C, Lonie A, Pope BJ, Roane TC, ... ... Tavtigian SV, et al. Rare mutations in RINT1 predispose carriers to breast and Lynch syndrome-spectrum cancers. Cancer Discovery. 4: 804-15. PMID 25050558 DOI: 10.1158/2159-8290.Cd-14-0212 |
0.498 |
|
| 2014 |
Damiola F, Pertesi M, Oliver J, Le Calvez-Kelm F, Voegele C, Young EL, Robinot N, Forey N, Durand G, Vallée MP, Tao K, Roane TC, Williams GJ, Hopper JL, Southey MC, ... ... Tavtigian SV, et al. Rare key functional domain missense substitutions in MRE11A, RAD50, and NBN contribute to breast cancer susceptibility: results from a Breast Cancer Family Registry case-control mutation-screening study. Breast Cancer Research : Bcr. 16: R58. PMID 24894818 DOI: 10.1186/bcr3669 |
0.457 |
|
| 2014 |
Tavtigian SV, Chenevix-Trench G. Growing recognition of the role for rare missense substitutions in breast cancer susceptibility. Biomarkers in Medicine. 8: 589-603. PMID 24796624 DOI: 10.2217/bmm.13.143 |
0.468 |
|
| 2013 |
Southey MC, Park DJ, Nguyen-Dumont T, Campbell I, Thompson E, Trainer AH, Chenevix-Trench G, Simard J, Dumont M, Soucy P, Thomassen M, Jønson L, Pedersen IS, Hansen TV, ... ... Tavtigian S, et al. COMPLEXO: identifying the missing heritability of breast cancer via next generation collaboration. Breast Cancer Research : Bcr. 15: 402. PMID 23809231 DOI: 10.1186/Bcr3434 |
0.511 |
|
| 2013 |
Thompson BA, Goldgar DE, Paterson C, Clendenning M, Walters R, Arnold S, Parsons MT, Michael D W, Gallinger S, Haile RW, Hopper JL, Jenkins MA, Lemarchand L, Lindor NM, Newcomb PA, ... ... Tavtigian SV, et al. 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. Human Mutation. 34: 200-9. PMID 22949379 DOI: 10.1002/Humu.22213 |
0.335 |
|
| 2012 |
Le Calvez-Kelm F, Oliver J, Damiola F, Forey N, Robinot N, Durand G, Voegele C, Vallée MP, Byrnes G, Registry BC, Hopper JL, Southey MC, Andrulis IL, John EM, Tavtigian SV, et al. RAD51 and breast cancer susceptibility: no evidence for rare variant association in the Breast Cancer Family Registry study. Plos One. 7: e52374. PMID 23300655 DOI: 10.1371/journal.pone.0052374 |
0.449 |
|
| 2012 |
Rasmussen LJ, Heinen CD, Royer-Pokora B, Drost M, Tavtigian S, Hofstra RM, de Wind N. Pathological assessment of mismatch repair gene variants in Lynch syndrome: past, present, and future. Human Mutation. 33: 1617-25. PMID 22833534 DOI: 10.1002/Humu.22168 |
0.467 |
|
| 2012 |
Ahmad J, Le Calvez-Kelm F, Daud S, Voegele C, Vallée M, Ahmad A, Kakar N, McKay JD, Gaborieau V, Léoné M, Sinilnikova O, Sangrajrang S, Tavtigian SV, Lesueur F. Detection of BRCA1/2 mutations in breast cancer patients from Thailand and Pakistan. Clinical Genetics. 82: 594-8. PMID 22486713 DOI: 10.1111/J.1399-0004.2012.01869.X |
0.459 |
|
| 2012 |
Tischkowitz M, Capanu M, Sabbaghian N, Li L, Liang X, Vallée MP, Tavtigian SV, Concannon P, Foulkes WD, Bernstein L, Bernstein JL, Begg CB. Rare germline mutations in PALB2 and breast cancer risk: a population-based study. Human Mutation. 33: 674-80. PMID 22241545 DOI: 10.1002/Humu.22022 |
0.435 |
|
| 2012 |
Vallée MP, Francy TC, Judkins MK, Babikyan D, Lesueur F, Gammon A, Goldgar DE, Couch FJ, Tavtigian SV. Classification of missense substitutions in the BRCA genes: a database dedicated to Ex-UVs. Human Mutation. 33: 22-8. PMID 21990165 DOI: 10.1002/humu.21629 |
0.382 |
|
| 2012 |
Spurdle AB, Healey S, Devereau A, Hogervorst FB, Monteiro AN, Nathanson KL, Radice P, Stoppa-Lyonnet D, Tavtigian S, Wappenschmidt B, Couch FJ, Goldgar DE. ENIGMA--evidence-based network for the interpretation of germline mutant alleles: an international initiative to evaluate risk and clinical significance associated with sequence variation in BRCA1 and BRCA2 genes. Human Mutation. 33: 2-7. PMID 21990146 DOI: 10.1002/Humu.21628 |
0.47 |
|
| 2012 |
Lindor NM, Guidugli L, Wang X, Vallée MP, Monteiro AN, Tavtigian S, Goldgar DE, Couch FJ. A review of a multifactorial probability-based model for classification of BRCA1 and BRCA2 variants of uncertain significance (VUS). Human Mutation. 33: 8-21. PMID 21990134 DOI: 10.1002/Humu.21627 |
0.505 |
|
| 2012 |
Southey M, Park D, Lesueur F, Odefrey F, Nguyen-Dumont T, Hammet F, Neuhausen S, John E, Andrulis I, Chenevix-Trench G, Baglietto L, Calvez-Kelm FL, Pertesi M, Lonie A, Pope B, ... ... Tavtigian S, et al. Identification of new breast cancer predisposition genes via whole exome sequencing Hereditary Cancer in Clinical Practice. 10: 1-2. DOI: 10.1186/1897-4287-10-S2-A40 |
0.532 |
|
| 2012 |
Feng B, Tavtigian S, Southey M, Goldgar D. Design considerations for massively parallel sequencing studies of common familial cancers Hereditary Cancer in Clinical Practice. 10: 1-1. DOI: 10.1186/1897-4287-10-S2-A38 |
0.424 |
|
| 2012 |
Thompson B, Goldgar D, Paterson C, Clendenning M, Walters R, Arnold S, Parsons M, Walsh M, Hopper J, Jenkins M, Greenblatt M, Buchanan D, Young J, Tavtigian S, Spurdle A. Estimation of probabilities in favour of pathogenicity for missense substitutions for use in clinical evaluation of mismatch repair gene variants Hereditary Cancer in Clinical Practice. 10: 1-1. DOI: 10.1186/1897-4287-10-S2-A31 |
0.379 |
|
| 2012 |
Jhuraney A, Velkova A, Vallée MP, Carvalho RS, Tavtigian SV, Monteiro AN. Abstract 4444: BRCA1 Circos: A visualization tool for BRCA1 missense variants Cancer Research. 72: 4444-4444. DOI: 10.1158/1538-7445.Am2012-4444 |
0.366 |
|
| 2011 |
Nguyen-Dumont T, Jordheim LP, Michelon J, Forey N, McKay-Chopin S, Sinilnikova O, Le Calvez-Kelm F, Southey MC, Tavtigian SV, Lesueur F. Detecting differential allelic expression using high-resolution melting curve analysis: application to the breast cancer susceptibility gene CHEK2. Bmc Medical Genomics. 4: 39. PMID 21569354 DOI: 10.1186/1755-8794-4-39 |
0.435 |
|
| 2011 |
Iversen ES, Couch FJ, Goldgar DE, Tavtigian SV, Monteiro AN. A computational method to classify variants of uncertain significance using functional assay data with application to BRCA1. Cancer Epidemiology, Biomarkers & Prevention : a Publication of the American Association For Cancer Research, Cosponsored by the American Society of Preventive Oncology. 20: 1078-88. PMID 21447777 DOI: 10.1158/1055-9965.Epi-10-1214 |
0.36 |
|
| 2011 |
Whiley PJ, Guidugli L, Walker LC, Healey S, Thompson BA, Lakhani SR, Da Silva LM, Tavtigian SV, Goldgar DE, Brown MA, Couch FJ, Spurdle AB. Splicing and multifactorial analysis of intronic BRCA1 and BRCA2 sequence variants identifies clinically significant splicing aberrations up to 12 nucleotides from the intron/exon boundary. Human Mutation. 32: 678-87. PMID 21394826 DOI: 10.1002/humu.21495 |
0.339 |
|
| 2011 |
Kohonen-Corish MR, Macrae F, Genuardi M, Aretz S, Bapat B, Bernstein IT, Burn J, Cotton RG, den Dunnen JT, Frebourg T, Greenblatt MS, Hofstra R, Holinski-Feder E, Lappalainen I, Lindblom A, ... ... Tavtigian S, et al. Deciphering the colon cancer genes--report of the InSiGHT-Human Variome Project Workshop, UNESCO, Paris 2010. Human Mutation. 32: 491-4. PMID 21387463 DOI: 10.1002/Humu.21450 |
0.417 |
|
| 2011 |
Tavtigian SV, Hashibe M, Thomas A. Tests of association for rare variants: case control mutation screening. Nature Reviews. Genetics. 12: 224. PMID 21283087 DOI: 10.1038/Nrg2867-C1 |
0.366 |
|
| 2011 |
Le Calvez-Kelm F, Lesueur F, Damiola F, Vallée M, Voegele C, Babikyan D, Durand G, Forey N, McKay-Chopin S, Robinot N, Nguyen-Dumont T, Thomas A, Byrnes GB, Hopper JL, Southey MC, ... ... Tavtigian SV, et al. Rare, evolutionarily unlikely missense substitutions in CHEK2 contribute to breast cancer susceptibility: results from a breast cancer family registry case-control mutation-screening study. Breast Cancer Research : Bcr. 13: R6. PMID 21244692 DOI: 10.1186/bcr2810 |
0.417 |
|
| 2010 |
Kohonen-Corish MR, Al-Aama JY, Auerbach AD, Axton M, Barash CI, Bernstein I, Béroud C, Burn J, Cunningham F, Cutting GR, den Dunnen JT, Greenblatt MS, Kaput J, Katz M, Lindblom A, ... ... Tavtigian S, et al. How to catch all those mutations--the report of the third Human Variome Project Meeting, UNESCO Paris, May 2010. Human Mutation. 31: 1374-81. PMID 20960468 DOI: 10.1002/Humu.21379 |
0.311 |
|
| 2010 |
Carvalho LVd, Pereira EM, Frappart L, Boniol M, Bernardo WM, Tarricone V, Tavtigian S, Southey MC. Molecular characterization of breast cancer in young Brazilian women Revista Da Associacao Medica Brasileira. 56: 278-287. PMID 20676533 DOI: 10.1590/S0104-42302010000300010 |
0.384 |
|
| 2010 |
Garritano S, Gemignani F, Palmero EI, Olivier M, Martel-Planche G, Le Calvez-Kelm F, Brugiéres L, Vargas FR, Brentani RR, Ashton-Prolla P, Landi S, Tavtigian SV, Hainaut P, Achatz MI. Detailed haplotype analysis at the TP53 locus in p.R337H mutation carriers in the population of Southern Brazil: evidence for a founder effect. Human Mutation. 31: 143-50. PMID 19877175 DOI: 10.1002/humu.21151 |
0.311 |
|
| 2010 |
Le Calvez F, Lesueur F, Damiola F, Voegele C, Durocher F, Hopper J, Southey M, Andrulis I, John E, Tavtigian S. 71 Rare, evolutionary unlikely missense substitutions in CHEK2 confer increased risk of breast cancer European Journal of Cancer Supplements. 8: 19. DOI: 10.1016/S1359-6349(10)70880-6 |
0.351 |
|
| 2010 |
Maxime V, Lesueur F, Spurdle A, Hogervorst F, Goldgar DE, Tavtigian SV. 71: The Breast Cancer Genes IARC Database: a tool to improve evaluation of BRCA1 and BRCA2 uncertain sequence variants Bulletin Du Cancer. 97: S61. DOI: 10.1016/S0007-4551(15)31164-4 |
0.396 |
|
| 2009 |
Tavtigian SV, Oefner PJ, Babikyan D, Hartmann A, Healey S, Le Calvez-Kelm F, Lesueur F, Byrnes GB, Chuang SC, Forey N, Feuchtinger C, Gioia L, Hall J, Hashibe M, Herte B, et al. Rare, evolutionarily unlikely missense substitutions in ATM confer increased risk of breast cancer. American Journal of Human Genetics. 85: 427-46. PMID 19781682 DOI: 10.1016/J.Ajhg.2009.08.018 |
0.438 |
|
| 2009 |
Nguyen-Dumont T, Calvez-Kelm FL, Forey N, McKay-Chopin S, Garritano S, Gioia-Patricola L, De Silva D, Weigel R, Sangrajrang S, Lesueur F, Tavtigian SV. Description and validation of high-throughput simultaneous genotyping and mutation scanning by high-resolution melting curve analysis. Human Mutation. 30: 884-90. PMID 19347964 DOI: 10.1002/humu.20949 |
0.319 |
|
| 2009 |
Campa D, McKay J, Sinilnikova O, Hüsing A, Vogel U, Hansen RD, Overvad K, Witt PM, Clavel-Chapelon F, Boutron-Ruault MC, Chajes V, Rohrmann S, Chang-Claude J, Boeing H, Fisher E, ... ... Tavtigian SV, et al. Genetic variation in genes of the fatty acid synthesis pathway and breast cancer risk. Breast Cancer Research and Treatment. 118: 565-74. PMID 19252981 DOI: 10.1007/s10549-009-0347-8 |
0.354 |
|
| 2009 |
Garritano S, Gemignani F, Voegele C, Nguyen-Dumont T, Le Calvez-Kelm F, De Silva D, Lesueur F, Landi S, Tavtigian SV. Determining the effectiveness of High Resolution Melting analysis for SNP genotyping and mutation scanning at the TP53 locus. Bmc Genetics. 10: 5. PMID 19222838 DOI: 10.1186/1471-2156-10-5 |
0.305 |
|
| 2009 |
Distelman-Menachem T, Shapira T, Laitman Y, Kaufman B, Barak F, Tavtigian S, Friedman E. Analysis of BRCA1/BRCA2 genes’ contribution to breast cancer susceptibility in high risk Jewish Ashkenazi women Familial Cancer. 8: 127-133. PMID 18798010 DOI: 10.1007/S10689-008-9216-6 |
0.51 |
|
| 2008 |
Tavtigian SV, Byrnes GB, Goldgar DE, Thomas A. Classification of rare missense substitutions, using risk surfaces, with genetic- and molecular-epidemiology applications. Human Mutation. 29: 1342-54. PMID 18951461 DOI: 10.1002/humu.20896 |
0.342 |
|
| 2008 |
Plon SE, Eccles DM, Easton D, Foulkes WD, Genuardi M, Greenblatt MS, Hogervorst FB, Hoogerbrugge N, Spurdle AB, Tavtigian SV. Sequence variant classification and reporting: recommendations for improving the interpretation of cancer susceptibility genetic test results. Human Mutation. 29: 1282-91. PMID 18951446 DOI: 10.1002/humu.20880 |
0.357 |
|
| 2008 |
Tischkowitz MD, Yilmaz A, Chen LQ, Karyadi DM, Novak D, Kirchhoff T, Hamel N, Tavtigian SV, Kolb S, Bismar TA, Aloyz R, Nelson PS, Hood L, Narod SA, White KA, et al. Identification and characterization of novel SNPs in CHEK2 in Ashkenazi Jewish men with prostate cancer. Cancer Letters. 270: 173-80. PMID 18571837 DOI: 10.1016/J.Canlet.2008.05.006 |
0.349 |
|
| 2008 |
Farrugia DJ, Agarwal MK, Pankratz VS, Deffenbaugh AM, Pruss D, Frye C, Wadum L, Johnson K, Mentlick J, Tavtigian SV, Goldgar DE, Couch FJ. Functional assays for classification of BRCA2 variants of uncertain significance Cancer Research. 68: 3523-3531. PMID 18451181 DOI: 10.1158/0008-5472.CAN-07-1587 |
0.405 |
|
| 2008 |
Spurdle AB, Lakhani SR, Healey S, Parry S, Da Silva LM, Brinkworth R, Hopper JL, Brown MA, Babikyan D, Chenevix-Trench G, Tavtigian SV, Goldgar DE. Clinical classification of BRCA1 and BRCA2 DNA sequence variants: the value of cytokeratin profiles and evolutionary analysis--a report from the kConFab Investigators. Journal of Clinical Oncology : Official Journal of the American Society of Clinical Oncology. 26: 1657-63. PMID 18375895 DOI: 10.1200/JCO.2007.13.2779 |
0.311 |
|
| 2008 |
Tischkowitz M, Hamel N, Carvalho MA, Birrane G, Soni A, van Beers EH, Joosse SA, Wong N, Novak D, Quenneville LA, Grist SA, Nederlof PM, Goldgar DE, Tavtigian SV, et al. Pathogenicity of the BRCA1 missense variant M1775K is determined by the disruption of the BRCT phosphopeptide-binding pocket: a multi-modal approach. European Journal of Human Genetics : Ejhg. 16: 820-32. PMID 18285836 DOI: 10.1038/ejhg.2008.13 |
0.374 |
|
| 2008 |
Hammet F, George J, Tesoriero AA, Jenkins MA, Schroen C, Smith L, Grabosch-Meehan A, Dite G, McCredie MR, Giles GG, Tavtigian SV, Hopper JL, Southey MC. Is BRCA2 c.9079 G>A a predisposing variant for early onset breast cancer? Breast Cancer Research and Treatment. 109: 177-9. PMID 17549625 DOI: 10.1007/s10549-007-9624-6 |
0.347 |
|
| 2008 |
Morris J, Tavtigian S. Use of BRCA1 protein:protein interactions to classify cancer risk Breast Cancer Research. 10: 1-2. DOI: 10.1186/Bcr1879 |
0.511 |
|
| 2008 |
Nguyen T, Lesueur F, Forey N, Silva DD, Weigel R, Tavtigian S, Calvez-Kelm FL. Description and validation of high-throughput simultaneous genotyping and mutation scanning by high-resolution melting curve analysis Ejc Supplements. 6: 100. DOI: 10.1016/S1359-6349(08)71558-1 |
0.324 |
|
| 2008 |
Garritano S, Landi S, Gemignani F, Magali O, Martel-Planche G, Brentani R, Ashton-Prolla P, Tavtigian S, Hainaut P, Achatz MW. High frequency of the cancer-predisposing TP53 mutation R337H in the population of south Brazil – evidence for a founder effect European Journal of Cancer Supplements. 6: 41. DOI: 10.1016/S1359-6349(08)71334-X |
0.378 |
|
| 2008 |
Babikyan D, Lesueur F, Voegele C, Hashibe M, Hall J, Byrnes G, Tavtigian S. Systematic and computatioanl analysis of ATM mutation screening data European Journal of Cancer Supplements. 6: 41. DOI: 10.1016/S1359-6349(08)71332-6 |
0.329 |
|
| 2008 |
Babikyan D, Lesueur F, Voegele C, Vallee M, Le Calvez-Kelm F, Hashibe M, Shu-Chun C, Hall J, Byrnes G, Tavtigian S. ATM in breast cancer susceptibility – results of a pooled analysis of case-control mutation screening data European Journal of Cancer Supplements. 6: 11. DOI: 10.1016/S1359-6349(08)71216-3 |
0.379 |
|
| 2007 |
Lovelock PK, Spurdle AB, Mok MT, Farrugia DJ, Lakhani SR, Healey S, Arnold S, Buchanan D, Couch FJ, Henderson BR, Goldgar DE, Tavtigian SV, Chenevix-Trench G, Brown MA. Identification of BRCA1 missense substitutions that confer partial functional activity: potential moderate risk variants? Breast Cancer Research : Bcr. 9: R82. PMID 18036263 DOI: 10.1186/bcr1826 |
0.384 |
|
| 2007 |
Easton DF, Deffenbaugh AM, Pruss D, Frye C, Wenstrup RJ, Allen-Brady K, Tavtigian SV, Monteiro AN, Iversen ES, Couch FJ, Goldgar DE. A systematic genetic assessment of 1,433 sequence variants of unknown clinical significance in the BRCA1 and BRCA2 breast cancer-predisposition genes. American Journal of Human Genetics. 81: 873-83. PMID 17924331 DOI: 10.1086/521032 |
0.481 |
|
| 2007 |
Cardis E, Hall J, Tavtigian SV. Identification of women with an increased risk of developing radiation-induced breast cancer. Breast Cancer Research : Bcr. 9: 106. PMID 17617928 DOI: 10.1186/bcr1733 |
0.388 |
|
| 2007 |
Sinilnikova OM, McKay JD, Tavtigian SV, Canzian F, DeSilva D, Biessy C, Monnier S, Dossus L, Boillot C, Gioia L, Hughes DJ, Jensen MK, Overvad K, Tjonneland A, Olsen A, et al. Haplotype-based analysis of common variation in the acetyl-coA carboxylase alpha gene and breast cancer risk: a case-control study nested within the European Prospective Investigation into Cancer and Nutrition. Cancer Epidemiology, Biomarkers & Prevention : a Publication of the American Association For Cancer Research, Cosponsored by the American Society of Preventive Oncology. 16: 409-15. PMID 17372234 DOI: 10.1158/1055-9965.EPI-06-0617 |
0.383 |
|
| 2007 |
Johnson N, Fletcher O, Palles C, Rudd M, Webb E, Sellick G, dos Santos Silva I, McCormack V, Gibson L, Fraser A, Leonard A, Gilham C, Tavtigian SV, Ashworth A, Houlston R, et al. Counting potentially functional variants in BRCA1, BRCA2 and ATM predicts breast cancer susceptibility. Human Molecular Genetics. 16: 1051-7. PMID 17341484 DOI: 10.1093/hmg/ddm050 |
0.404 |
|
| 2007 |
Petitjean A, Mathe E, Kato S, Ishioka C, Tavtigian SV, Hainaut P, Olivier M. Impact of mutant p53 functional properties on TP53 mutation patterns and tumor phenotype: lessons from recent developments in the IARC TP53 database. Human Mutation. 28: 622-9. PMID 17311302 DOI: 10.1002/Humu.20495 |
0.32 |
|
| 2007 |
Simard J, Dumont M, Moisan AM, Gaborieau V, Malouin H, Durocher F, Chiquette J, Plante M, Avard D, Bessette P, Brousseau C, Dorval M, Godard B, Houde L, ... ... Tavtigian SV, et al. Evaluation of BRCA1 and BRCA2 mutation prevalence, risk prediction models and a multistep testing approach in French-Canadian families with high risk of breast and ovarian cancer. Journal of Medical Genetics. 44: 107-21. PMID 16905680 DOI: 10.1136/Jmg.2006.044388 |
0.355 |
|
| 2007 |
Simard J, Dumont M, Moisan AM, Gaborieau V, Vézina H, Durocher F, Chiquette J, Plante M, Avard D, Bessette P, Brousseau C, Dorval M, Godard B, Houde L, Joly Y, ... ... Tavtigian SV, et al. Erratum: Evaluation of BRCA1 and BRCA2 mutation prevalence, risk prediction models and a multistep testing approach in French-Canadian families with high risk of breast and ovarian cancer (Journal of Medical Genetics (2007) 44, (107-121)) Journal of Medical Genetics. 44. DOI: 10.1136/Jmg.2006.044388Corr1 |
0.367 |
|
| 2006 |
Tavtigian SV, Pierotti MA, Børresen-Dale AL. International Agency for Research on Cancer workshop on 'Expression array analyses in breast cancer taxonomy'. Breast Cancer Research : Bcr. 8: 303. PMID 17096863 DOI: 10.1186/bcr1609 |
0.304 |
|
| 2006 |
Durocher F, Labrie Y, Soucy P, Sinilnikova O, Labuda D, Bessette P, Chiquette J, Laframboise R, Lépine J, Lespérance B, Ouellette G, Pichette R, Plante M, Tavtigian SV, Simard J. Mutation analysis and characterization of ATR sequence variants in breast cancer cases from high-risk French Canadian breast/ovarian cancer families. Bmc Cancer. 6: 230. PMID 17010193 DOI: 10.1186/1471-2407-6-230 |
0.519 |
|
| 2006 |
Waddell N, Jonnalagadda J, Marsh A, Grist S, Jenkins M, Hobson K, Taylor M, Lindeman GJ, Tavtigian SV, Suthers G, Goldgar D, Oefner PJ, Taylor D, Grimmond S, et al. Characterization of the breast cancer associated ATM 7271T>G (V2424G) mutation by gene expression profiling. Genes, Chromosomes & Cancer. 45: 1169-81. PMID 17001622 DOI: 10.1002/gcc.20381 |
0.418 |
|
| 2006 |
Sodha N, Mantoni TS, Tavtigian SV, Eeles R, Garrett MD. Rare germ line CHEK2 variants identified in breast cancer families encode proteins that show impaired activation. Cancer Research. 66: 8966-70. PMID 16982735 DOI: 10.1158/0008-5472.CAN-06-1990 |
0.371 |
|
| 2006 |
Chenevix-Trench G, Healey S, Lakhani S, Waring P, Cummings M, Brinkworth R, Deffenbaugh AM, Burbidge LA, Pruss D, Judkins T, Scholl T, Bekessy A, Marsh A, Lovelock P, Wong M, ... ... Tavtigian SV, et al. Genetic and histopathologic evaluation of BRCA1 and BRCA2 DNA sequence variants of unknown clinical significance. Cancer Research. 66: 2019-27. PMID 16489001 DOI: 10.1158/0008-5472.CAN-05-3546 |
0.422 |
|
| 2006 |
Ware MD, DeSilva D, Sinilnikova OM, Stoppa-Lyonnet D, Tavtigian SV, Mazoyer S. Does nonsense-mediated mRNA decay explain the ovarian cancer cluster region of the BRCA2 gene? Oncogene. 25: 323-8. PMID 16170354 DOI: 10.1038/sj.onc.1209033 |
0.416 |
|
| 2006 |
Tavtigian SV, Deffenbaugh AM, Yin L, Judkins T, Scholl T, Samollow PB, De Silva D, Zharkikh A, Thomas A. Comprehensive statistical study of 452 BRCA1 missense substitutions with classification of eight recurrent substitutions as neutral Journal of Medical Genetics. 43: 295-305. PMID 16014699 DOI: 10.1136/jmg.2005.033878 |
0.384 |
|
| 2005 |
Hung RJ, van der Hel O, Tavtigian SV, Brennan P, Boffetta P, Hashibe M. Perspectives on the molecular epidemiology of aerodigestive tract cancers. Mutation Research. 592: 102-18. PMID 16023150 DOI: 10.1016/J.Mrfmmm.2005.06.007 |
0.345 |
|
| 2005 |
Wu K, Hinson SR, Ohashi A, Farrugia D, Wendt P, Tavtigian SV, Deffenbaugh A, Goldgar D, Couch FJ. Functional evaluation and cancer risk assessment of BRCA2 unclassified variants. Cancer Research. 65: 417-26. PMID 15695382 |
0.413 |
|
| 2005 |
Camp NJ, Swensen J, Horne BD, Farnham JM, Thomas A, Cannon-Albright LA, Tavtigian SV. Characterization of linkage disequilibrium structure, mutation history, and tagging SNPs, and their use in association analyses: ELAC2 and familial early-onset prostate cancer. Genetic Epidemiology. 28: 232-43. PMID 15593091 DOI: 10.1002/Gepi.20054 |
0.31 |
|
| 2004 |
Goldgar DE, Easton DF, Deffenbaugh AM, Monteiro AN, Tavtigian SV, Couch FJ. Integrated evaluation of DNA sequence variants of unknown clinical significance: application to BRCA1 and BRCA2. American Journal of Human Genetics. 75: 535-44. PMID 15290653 DOI: 10.1086/424388 |
0.333 |
|
| 2004 |
Abkevich V, Zharkikh A, Deffenbaugh AM, Frank D, Chen Y, Shattuck D, Skolnick MH, Gutin A, Tavtigian SV. Analysis of missense variation in human BRCA1 in the context of interspecific sequence variation Journal of Medical Genetics. 41: 492-507. PMID 15235020 DOI: 10.1136/jmg.2003.015867 |
0.343 |
|
| 2003 |
Simard J, Dumont M, Labuda D, Sinnett D, Meloche C, El-Alfy M, Berger L, Lees E, Labrie F, Tavtigian SV. Prostate cancer susceptibility genes: lessons learned and challenges posed. Endocrine-Related Cancer. 10: 225-59. PMID 12790786 DOI: 10.1677/Erc.0.0100225 |
0.344 |
|
| 2003 |
Korver W, Guevara C, Chen Y, Neuteboom S, Bookstein R, Tavtigian S, Lees E. The product of the candidate prostate cancer susceptibility gene ELAC2 interacts with the gamma-tubulin complex. International Journal of Cancer. 104: 283-8. PMID 12569551 DOI: 10.1002/Ijc.10945 |
0.415 |
|
| 2001 |
Tavtigian SV, Simard J, Teng DH, Abtin V, Baumgard M, Beck A, Camp NJ, Carillo AR, Chen Y, Dayananth P, Desrochers M, Dumont M, Farnham JM, Frank D, Frye C, et al. A candidate prostate cancer susceptibility gene at chromosome 17p. Nature Genetics. 27: 172-80. PMID 11175785 DOI: 10.1038/84808 |
0.344 |
|
| 1999 |
Wong AK, Chen Y, Lian L, Ha PC, Petersen K, Laity K, Carillo A, Emerson M, Heichman K, Gupte J, Tavtigian SV, Teng DH. Genomic structure, chromosomal location, and mutation analysis of the human CDC14A gene. Genomics. 59: 248-51. PMID 10409437 DOI: 10.1006/GENO.1999.5863 |
0.309 |
|
| 1997 |
Shattuck-Eidens D, Oliphant A, McClure M, McBride C, Gupte J, Rubano T, Pruss D, Tavtigian SV, Teng DH-, Adey N, Staebell M, Gumpper K, Lundstrom R, Hulick M, Kelly M, et al. BRCA1 Sequence Analysis in Women at High Risk for Susceptibility Mutations: Risk Factor Analysis and Implications for Genetic Testing Jama. 278: 1242-1250. DOI: 10.1001/Jama.1997.03550150046034 |
0.448 |
|
| 1996 |
Couch FJ, Farid LM, DeShano ML, Tavtigian SV, Calzone K, Campeau L, Peng Y, Bogden B, Chen Q, Neuhausen S, Shattuck-Eidens D, Godwin AK, Daly M, Radford DM, Sedlacek S, et al. BRCA2 germline mutations in male breast cancer cases and breast cancer families. Nature Genetics. 13: 123-5. PMID 8673091 DOI: 10.1038/Ng0596-123 |
0.428 |
|
| 1996 |
Thorlacius S, Olafsdottir G, Tryggvadottir L, Neuhausen S, Jonasson JG, Tavtigian SV, Tulinius H, Ogmundsdottir HM, Eyfjörd JE. A single BRCA2 mutation in male and female breast cancer families from Iceland with varied cancer phenotypes. Nature Genetics. 13: 117-9. PMID 8673089 DOI: 10.1038/NG0596-117 |
0.392 |
|
| 1996 |
Teng DHF, Bogden R, Mitchell J, Baumgard M, Bell R, Berry S, Davis T, Ha PC, Kehrer R, Jammulapati S, Chen Q, Offit K, Skolnick MH, Tavtigian SV, Jhanwar S, et al. Low incidence of BRCA2 mutations in breast carcinoma and other cancers Nature Genetics. 13: 241-244. PMID 8640236 DOI: 10.1038/ng0696-241 |
0.446 |
|
| 1996 |
Tavtigian SV, Simard J, Rommens J, Couch F, Shattuck-Eidens D, Neuhausen S, Merajver S, Thorlacius S, Offit K, Stoppa-Lyonnet D, Belanger C, Bell R, Berry S, Bogden R, Chen Q, et al. The complete BRCA2 gene and mutations in chromosome 13q-linked kindreds Nature Genetics. 12: 333-337. PMID 8589730 DOI: 10.1038/Ng0396-333 |
0.41 |
|
| 1994 |
Tavtigian SV, Zabludoff SD, Wold BJ. Cloning of mid-G1 serum response genes and identification of a subset regulated by conditional myc expression. Molecular Biology of the Cell. 5: 375-88. PMID 8049528 |
0.47 |
|
| 1994 |
Futreal PA, Liu Q, Shattuck-Eidens D, Cochran C, Harshman K, Tavtigian S, Bennett LM, Haugen-Strano A, Swensen J, Miki Y, Eddington K, McClure M, Frye C, Weaver-Feldhaus J, Ding W, et al. BRCA1 mutations in primary breast and ovarian carcinomas Science. 266: 120-122. PMID 7939630 DOI: 10.1126/Science.7939630 |
0.479 |
|
| 1994 |
Kamb A, Futreal PA, Rosenthal J, Cochran C, Harshman KD, Liu Q, Phelps RS, Tavtigian SV, Tran T, Hussey C, Bell R, Miki Y, Swensen J, Hobbs MR, Marks J, et al. Localization of the VHR Phosphatase Gene and Its Analysis as a Candidate for BRCA1 Genomics. 23: 163-167. PMID 7829067 DOI: 10.1006/Geno.1994.1473 |
0.399 |
|
| 1994 |
Miki Y, Swensen J, Shattuck-Eidens D, Futreal PA, Harshman K, Tavtigian S, Liu Q, Cochran C, Bennett LM, Ding W, Bell R, Rosenthal J, Hussey C, Tran T, McClure M, et al. A strong candidate for the breast and ovarian cancer susceptibility gene BRCA1 Science. 266: 66-71. PMID 7545954 DOI: 10.1126/Science.7545954 |
0.503 |
|
| Show low-probability matches. |