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Tina F. Pesaran

TitleAdjunct Associate Professor
InstitutionCharles R. Drew University of Medicine and Science
DepartmentSocial Sci & Humanities
Address1731 E. 120th Street
Los Angeles CA 90059
PhoneNot Available
FaxNot Available
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    Bibliographic
    selected publications
    Publications listed below are automatically derived from MEDLINE/PubMed and other sources, which might result in incorrect or missing publications. Faculty can login to make corrections and additions.
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    PMC Citations indicate the number of times the publication was cited by articles in PubMed Central, and the Altmetric score represents citations in news articles and social media. (Note that publications are often cited in additional ways that are not shown here.) Fields are based on how the National Library of Medicine (NLM) classifies the publication's journal and might not represent the specific topic of the publication. Translation tags are based on the publication type and the MeSH terms NLM assigns to the publication. Some publications (especially newer ones and publications not in PubMed) might not yet be assigned Field or Translation tags.) Click a Field or Translation tag to filter the publications.
    1. Richardson ME, Bishop MFH, Holdren MA, de la Hoya M, Spurdle AB, Tavtigian SV, Brannan T, Young CC, Zec L, Hiraki S, Turnbull C, Tischkowitz M, Bernstein KA, Masson JY, McNulty SM, Pesaran T, Monteiro AN, Walker LC, Foulkes WD, Couch FJ. Specifications of the ACMG/AMP variant curation guidelines for the analysis of germline PALB2 sequence variants. Am J Hum Genet. 2025 Oct 02; 112(10):2266-2280. PMID: 40967221; PMCID: PMC12520758.
      Citations:    Fields:    
    2. Allen S, Rowlands CF, Butler S, Durkie M, Horton C, Pesaran T, Richardson M, Robinson R, Garrett A, Burghel GJ, Callaway A, Field J, Frugtniet B, Palmer-Smith S, Grant J, Pagan J, McDevitt T, Snape K, Andreou A, Maher ER, Hanson H, McVeigh T, Turnbull C, CanVIG-UK. Quantifying evidence for phenotypic specificity (PP4) for syndromic phenotypes: Large-scale integration of rare germline FH variants from diagnostic laboratory testing for HLRCC and renal cancer. Genet Med. 2025 Nov; 27(11):101565. PMID: 40916913.
      Citations:    Fields:    
    3. Ritter DI, Badduke C, Doonanco K, Kang HC, Pesaran T, Ridd S, Sheen C, Farncombe KM, Giles RH, Luo M, Pipko N, Tsoi CT, McGoldrick K, Mighton C, Abu Kashabeh RH, Sanabria-Salas MC, Talab Y, Deka KB, Jacobs MF, Tuzlali E, Gallinger B, Griffith M, Krysiak K, Machado J, Maher ER, Tirosh A, Kim RH. Multi-Platform Curation in the Development of ACMG/AMP Specifications for Von Hippel Lindau (VHL) Disease. medRxiv. 2025 Aug 27. PMID: 40909814; PMCID: PMC12407605.
      Citations:    
    4. Fortuno C, Richardson ME, Pesaran T, McGoldrick K, James PA, Spurdle AB. Characteristics predicting reduced penetrance variants in the high-risk cancer predisposition gene TP53. HGG Adv. 2025 Oct 09; 6(4):100484. PMID: 40696762; PMCID: PMC12337872.
      Citations:    Fields:    
    5. Johnatty SE, Tudini E, Parsons MT, Michailidou K, Zanti M, Canson D, Davidson AL, Berger T, Rosti RO, Kratz CP, Kalb R, McReynolds LJ, Giri N, Richardson M, Pesaran T, Surrall?s J, Pujol R, Vundinti BR, George M, Maxwell KN, Nathanson K, Domchek S, Fiesco-Roa M?, Frias S, Garcia-de-Teresa B, Jongmans M, Lalani S, Maiburg M, Prescott K, Robinson R, Rajagopalan S, Blok LS, Temple SEL, Tucker K, Auerbach AD, Cancio MI, Kennedy JA, MacMillan ML, Tryon R, Wagner JE, Walsh M, Boddicker NJ, Hu C, Weitzel JN, Dingemans AJM, Hadler J, Rotenberg N, Ramadane-Morchadi L, de la Hoya M, James P, Van Overeem Hansen T, Vreeswijk MPG, Walker LC, Sharan SK, Easton DF, Couch F, Smogorzewska A, Nelson A, Ngeow J, Tischkowitz M, Gomez-Garcia E, Spurdle AB. Analysis of BRCA1, BRCA2 and PALB2 related Fanconi anemia identifies scope to expand disease phenotypic features and predict breast cancer risk in heterozygotes. medRxiv. 2025 May 26. PMID: 40568666; PMCID: PMC12191086.
      Citations:    
    6. Akamandisa MP, Boddicker NJ, Yadav S, Hu C, Hart SN, Ambrosone CB, Anton-Culver H, Auer PL, Bodelon C, Burnside ES, Chen F, Eliassen AH, Goldgar DE, Haiman C, Hodge JM, Huang H, John EM, Karam R, Lacey JV, Lindstroem S, Martinez ME, Na J, Neuhausen SL, O'Brien KM, Olson JE, Pal T, Palmer JR, Patel AV, Pesaran T, Polley EC, Richardson ME, Ruddy KJ, Sandler DP, Teras LR, Trentham-Dietz A, Vachon CM, Weinberg C, Winham SJ, Yao S, Zirpoli G, Kraft P, Weitzel JN, Domchek SM, Couch FJ, Nathanson KL. Association of gene variant type and location with breast cancer risk in the general population. Ann Oncol. 2025 Aug; 36(8):954-963. PMID: 40288678; PMCID: PMC12288856.
      Citations:    Fields:    Translation:Humans
    7. Huang H, Hu C, Na J, Hart SN, Gnanaolivu RD, Abozaid M, Rao T, Tecleab YA, CARRIERS Consortium, Pesaran T, Lyra PCM, Karam R, Yadav S, Nathanson KL, Domchek SM, de la Hoya M, Robson M, Mehine M, Bandlamudi C, Mandelker D, Monteiro ANA, Iversen ES, Boddicker N, Chen W, Richardson ME, Couch FJ. Functional evaluation and clinical classification of BRCA2 variants. Nature. 2025 Jan 08. PMID: 39779857.
      Citations: 8     Fields:    Translation:Humans
    8. Huang H, Couch RE, Karam R, Hu C, Boddicker N, Polley EC, Na J, Ambrosone CB, Yao S, Trentham-Dietz A, Eliassen AH, Penney K, Brantley K, Bodelon C, Teras LR, Hodge J, Patel A, Haiman CA, John EM, Neuhausen SL, Martinez E, Lacey JV, O'Brien KM, Sandler DP, Weinberg CR, Palmer JR, Bertrand KA, Vachon CM, Olson JE, Ruddy KE, Anton-Culver H, Ziogas A, Goldgar DE, Nathanson KL, Domchek SM, Weitzel JN, Kraft P, Dolinsky JS, Pesaran T, Richardson ME, Yadav S, Couch FJ. Pathogenic Variants in Cancer Susceptibility Genes Predispose to Ductal Carcinoma In Situ of the Breast. Clin Cancer Res. 2025 Jan 06; 31(1):130-138. PMID: 39513960; PMCID: PMC11701432.
      Citations: 5     Fields:    Translation:Humans
    9. Pal T, Mundt E, Richardson ME, Chao E, Pesaran T, Slavin TP, Couch FJ, Monteiro ANA. Reduced penetrance BRCA1 and BRCA2 pathogenic variants in clinical germline genetic testing. NPJ Precis Oncol. 2024 Nov 02; 8(1):247. PMID: 39488595; PMCID: PMC11531542.
      Citations: 3     
    10. Akamandisa MP, Boddicker NJ, Yadav S, Hu C, Hart SN, Ambrosone C, Anton-Culver H, Auer PL, Bodelon C, Burnside ES, Chen F, Eliassen HA, Goldgar DE, Haiman C, Hodge JM, Huang H, John EM, Karam R, Lacey JV, Lindstroem S, Martinez E, Na J, Neuhausen SL, O'Brien KM, Olson JE, Pal T, Palmer JR, Patel AV, Pesaran T, Polley EC, Richardson ME, Ruddy K, Sandler DP, Teras LR, Trentham-Dietz A, Vachon CM, Weinberg C, Winham SJ, Yao S, Zirpoli G, Kraft P, Weitzel JN, Domchek SM, Couch FJ, Nathanson KL. Association of Gene Variant Type and Location with Breast Cancer Risk in the General Population. medRxiv. 2024 Oct 12. PMID: 39417132; PMCID: PMC11482981.
      Citations:    
    11. Yin X, Richardson M, Laner A, Shi X, Ognedal E, Vasta V, Hansen TVO, Pineda M, Ritter D, de Dunnen J, Hassanin E, Lin WL, Borras E, Krahn K, Nordling M, Martins A, Mahmood K, Nadeau E, Beshay V, Tops C, Genuardi M, Pesaran T, Frayling IM, Capell? G, Latchford A, Tavtigian SV, Maj C, Plon SE, Greenblatt MS, Macrae FA, Spier I, Aretz S. Large-scale application of ClinGen-InSiGHT APC-specific ACMG/AMP variant classification criteria leads to substantial reduction in VUS. Am J Hum Genet. 2024 Nov 07; 111(11):2427-2443. PMID: 39357517; PMCID: PMC11568752.
      Citations: 5     Fields:    Translation:Humans
    12. 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, Slavin T, Foulkes WD, Cline M, Monteiro AN, Pesaran T, Couch FJ. Specifications of the ACMG/AMP variant curation guidelines for the analysis of germline ATM sequence variants. Am J Hum Genet. 2024 Nov 07; 111(11):2411-2426. PMID: 39317201; PMCID: PMC11568761.
      Citations: 4     Fields:    Translation:Humans
    13. Ranola JMO, Horton C, Pesaran T, Fayer S, Starita LM, Shirts BH. Assigning credit where it is due: an information content score to capture the clinical value of multiplexed assays of variant effect. BMC Bioinformatics. 2024 Sep 06; 25(1):295. PMID: 39243022; PMCID: PMC11380199.
      Citations: 1     Fields:    Translation:Humans
    14. 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, Houdayer C, Hruska K, James P, Karam R, Leong HS, Martins A, Mensenkamp AR, Monteiro AN, Nathan V, O'Connor R, Pedersen IS, Pesaran T, Radice P, Schmidt G, Southey M, Tavtigian S, Thompson BA, Toland AE, Turnbull C, Vogel MJ, Weyandt J, Wiggins GAR, Zec L, Couch FJ, Walker LC, Vreeswijk MPG, Goldgar DE, Spurdle AB. Evidence-based recommendations for gene-specific ACMG/AMP variant classification from the ClinGen ENIGMA BRCA1 and BRCA2 Variant Curation Expert Panel. Am J Hum Genet. 2024 Sep 05; 111(9):2044-2058. PMID: 39142283; PMCID: PMC11393667.
      Citations: 24     Fields:    Translation:Humans
    15. 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, Slavin T, Foulkes WD, Cline M, Monteiro AN, Pesaran T, Couch FJ. Specifications of the ACMG/AMP variant curation guidelines for the analysis of germline ATM sequence variants. medRxiv. 2024 May 29. PMID: 38854136; PMCID: PMC11160822.
      Citations:    
    16. Yin X, Richardson M, Laner A, Shi X, Ognedal E, Vasta V, Hansen TVO, Pineda M, Ritter D, den Dunnen JT, Hassanin E, Lyman Lin W, Borras E, Krahn K, Nordling M, Martins A, Mahmood K, Nadeau EAW, Beshay V, Tops C, Genuardi M, Pesaran T, Frayling IM, Capell? G, Latchford A, Tavtigian SV, Maj C, Plon SE, Greenblatt MS, Macrae FA, Spier I, Aretz S. Systematic large-scale application of ClinGen InSiGHT APC -specific ACMG/AMP variant classification criteria substantially alleviates the burden of variants of uncertain significance in ClinVar and LOVD databases. medRxiv. 2024 May 04. PMID: 38746299; PMCID: PMC11092726.
      Citations:    
    17. Fortuno C, Michailidou K, Parsons M, Dolinsky JS, Pesaran T, Yussuf A, Mester JL, Hruska KS, Hiraki S, O'Connor R, Chan RC, Kim S, Tavtigian SV, Goldgar D, James PA, Spurdle AB. Challenges and approaches to calibrating patient phenotype as evidence for cancer gene variant classification under ACMG/AMP guidelines. Hum Mol Genet. 2024 04 08; 33(8):724-732. PMID: 38271184; PMCID: PMC11000651.
      Citations: 2     Fields:    Translation:Humans
    18. Hu C, Huang H, Na J, Lumby C, Abozaid M, Holdren MA, Rao TJ, Karam R, Pesaran T, Weyandt JD, Csuy CM, Seelaus CA, Young CC, Fulk K, Heidari Z, Morais Lyra PC, Couch RE, Persons B, Polley EC, Gnanaolivu RD, Boddicker NJ, Monteiro ANA, Yadav S, Domchek SM, Richardson ME, Couch FJ. Functional analysis and clinical classification of 462 germline BRCA2 missense variants affecting the DNA binding domain. Am J Hum Genet. 2024 03 07; 111(3):584-593. PMID: 38417439; PMCID: PMC10940015.
      Citations: 5     Fields:    Translation:HumansCells
    19. Biesecker LG, Byrne AB, Harrison SM, Pesaran T, Sch?ffer AA, Shirts BH, Tavtigian SV, Rehm HL, ClinGen Sequence Variant Interpretation Working Group. ClinGen guidance for use of the PP1/BS4 co-segregation and PP4 phenotype specificity criteria for sequence variant pathogenicity classification. Am J Hum Genet. 2024 01 04; 111(1):24-38. PMID: 38103548; PMCID: PMC10806742.
      Citations: 32     Fields:    Translation:Humans
    20. Huang H, Hu C, Na J, Hart SN, Gnanaolivu RD, Abozaid M, Rao T, Tecleab YA, Pesaran T, Lyra PCM, Karam R, Yadav S, Domchek SM, de la Hoya M, Robson M, Mehine M, Bandlamudi C, Mandelker D, Monteiro ANA, Boddicker N, Chen W, Richardson ME, Couch FJ. Saturation genome editing-based functional evaluation and clinical classification of BRCA2 single nucleotide variants. bioRxiv. 2023 Dec 15. PMID: 38168194; PMCID: PMC10760149.
      Citations:    
    21. Schmidt RJ, Steeves M, Bayrak-Toydemir P, Benson KA, Coe BP, Conlin LK, Ganapathi M, Garcia J, Gollob MH, Jobanputra V, Luo M, Ma D, Maston G, McGoldrick K, Palculict TB, Pesaran T, Pollin TI, Qian E, Rehm HL, Riggs ER, Schilit SLP, Sergouniotis PI, Tvrdik T, Watkins N, Zec L, Zhang W, Lebo MS, ClinGen Low Penetrance/Risk Allele Working Group. Recommendations for risk allele evidence curation, classification, and reporting from the ClinGen Low Penetrance/Risk Allele Working Group. Genet Med. 2024 03; 26(3):101036. PMID: 38054408; PMCID: PMC10939896.
      Citations: 21     Fields:    Translation:Humans
    22. Fortuno C, Richardson M, Pesaran T, Yussuf A, Horton C, James PA, Spurdle AB. CHEK2 is not a Li-Fraumeni syndrome gene: time to update public resources. J Med Genet. 2023 11 27; 60(12):1215-1217. PMID: 37536919.
      Citations: 1     Fields:    Translation:Humans
    23. Ranola JMO, Horton C, Pesaran T, Fayer S, Starita LM, Shirts BH. Assigning credit where it's due: An information content score to capture the clinical value of Multiplexed Assays of Variant Effect. bioRxiv. 2023 Oct 20. PMID: 37905042; PMCID: PMC10614968.
      Citations:    
    24. 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, Yamamoto G, Baert-Desurmont S, Martins A, Borras E, Tops C, Webb E, Beshay V, Genuardi M, Pesaran T, Capell? G, Tavtigian SV, Latchford A, Frayling IM, Plon SE, Greenblatt M, Macrae FA, Aretz S, InSiGHT-ClinGen Hereditary Colon Cancer/Polyposis Variant Curation Expert Panel. Gene-specific ACMG/AMP classification criteria for germline APC variants: Recommendations from the ClinGen InSiGHT Hereditary Colorectal Cancer/Polyposis Variant Curation Expert Panel. Genet Med. 2024 02; 26(2):100992. PMID: 37800450; PMCID: PMC10922469.
      Citations: 15     Fields:    Translation:HumansCells
    25. Hu C, Nagaraj AB, Shimelis H, Montalban G, Lee KY, Huang H, Lumby CA, Na J, Susswein LR, Roberts ME, Marshall ML, Hiraki S, LaDuca H, Chao E, Yussuf A, Pesaran T, Neuhausen SL, Haiman CA, Kraft P, Lindstrom S, Palmer JR, Teras LR, Vachon CM, Yao S, Ong I, Nathanson KL, Weitzel JN, Boddicker N, Gnanaolivu R, Polley EC, Mer G, Cui G, Karam R, Richardson ME, Domchek SM, Yadav S, Hruska KS, Dolinsky J, Weroha SJ, Hart SN, Simard J, Masson JY, Pang YP, Couch FJ. Functional and Clinical Characterization of Variants of Uncertain Significance Identifies a Hotspot for Inactivating Missense Variants in RAD51C. Cancer Res. 2023 08 01; 83(15):2557-2571. PMID: 37253112; PMCID: PMC10390864.
      Citations: 6     Fields:    Translation:Humans
    26. Rehm HL, Alaimo JT, Aradhya S, Bayrak-Toydemir P, Best H, Brandon R, Buchan JG, Chao EC, Chen E, Clifford J, Cohen ASA, Conlin LK, Das S, Davis KW, Del Gaudio D, Del Viso F, DiVincenzo C, Eisenberg M, Guidugli L, Hammer MB, Harrison SM, Hatchell KE, Dyer LH, Hoang LU, Holt JM, Jobanputra V, Karbassi ID, Kearney HM, Kelly MA, Kelly JM, Kluge ML, Komala T, Kruszka P, Lau L, Lebo MS, Marshall CR, McKnight D, McWalter K, Meng Y, Nagan N, Neckelmann CS, Neerman N, Niu Z, Paolillo VK, Paolucci SA, Perry D, Pesaran T, Radtke K, Rasmussen KJ, Retterer K, Saunders CJ, Spiteri E, Stanley C, Szuto A, Taft RJ, Thiffault I, Thomas BC, Thomas-Wilson A, Thorpe E, Tidwell TJ, Towne MC, Zouk H, Medical Genome Initiative Steering Committee. The landscape of reported VUS in multi-gene panel and genomic testing: Time for a change. Genet Med. 2023 12; 25(12):100947. PMID: 37534744; PMCID: PMC10825061.
      Citations: 42     Fields:    Translation:Humans
    27. Walker LC, Hoya M, Wiggins GAR, Lindy A, Vincent LM, Parsons MT, Canson DM, Bis-Brewer D, Cass A, Tchourbanov A, Zimmermann H, Byrne AB, Pesaran T, Karam R, Harrison SM, Spurdle AB, ClinGen Sequence Variant Interpretation Working Group. Using the ACMG/AMP framework to capture evidence related to predicted and observed impact on splicing: Recommendations from the ClinGen SVI Splicing Subgroup. Am J Hum Genet. 2023 07 06; 110(7):1046-1067. PMID: 37352859; PMCID: PMC10357475.
      Citations: 112     Fields:    Translation:HumansCells
    28. Walker LC, de la Hoya M, Wiggins GAR, Lindy A, Vincent LM, Parsons MT, Canson DM, Bis-Brewer D, Cass A, Tchourbanov A, Zimmermann H, Byrne AB, Pesaran T, Karam R, Harrison S, Spurdle AB. APPLICATION OF THE ACMG/AMP FRAMEWORK TO CAPTURE EVIDENCE RELEVANT TO PREDICTED AND OBSERVED IMPACT ON SPLICING: RECOMMENDATIONS FROM THE CLINGEN SVI SPLICING SUBGROUP. medRxiv. 2023 Feb 26. PMID: 36865205; PMCID: PMC9980257.
      Citations:    
    29. Luo X, Maciaszek JL, Thompson BA, Leong HS, Dixon K, Sousa S, Anderson M, Roberts ME, Lee K, Spurdle AB, Mensenkamp AR, Brannan T, Pardo C, Zhang L, Pesaran T, Wei S, Fasaye GA, Kesserwan C, Shirts BH, Davis JL, Oliveira C, Plon SE, Schrader KA, Karam R, ClinGen CDH1 Variant Curation Expert Panel. Optimising clinical care through CDH1-specific germline variant curation: improvement of clinical assertions and updated curation guidelines. J Med Genet. 2023 06; 60(6):568-575. PMID: 36600593; PMCID: PMC10202836.
      Citations: 14     Fields:    Translation:HumansCells
    30. Thomassen M, Mesman RLS, Hansen TVO, Menendez M, Rossing M, Esteban-S?nchez A, Tudini E, T?rngren T, Parsons MT, Pedersen IS, Teo SH, Kruse TA, M?ller P, Borg ?, Jensen UB, Christensen LL, Singer CF, Muhr D, Santamarina M, Brandao R, Andresen BS, Feng BJ, Canson D, Richardson ME, Karam R, Pesaran T, LaDuca H, Conner BR, Abualkheir N, Hoang L, Call?ja FMGR, Andrews L, James PA, Bunyan D, Hamblett A, Radice P, Goldgar DE, Walker LC, Engel C, Claes KBM, Mach?ckov? E, Baralle D, Viel A, Wappenschmidt B, Lazaro C, Vega A, ENIGMA Consortium, Vreeswijk MPG, de la Hoya M, Spurdle AB. Clinical, splicing, and functional analysis to classify BRCA2 exon 3 variants: Application of a points-based ACMG/AMP approach. Hum Mutat. 2022 12; 43(12):1921-1944. PMID: 35979650; PMCID: PMC10946542.
      Citations: 4     Fields:    Translation:HumansAnimalsCells
    31. Iversen ES, Lipton G, Hart SN, Lee KY, Hu C, Polley EC, Pesaran T, Yussuf A, LaDuca H, Chao E, Karam R, Goldgar DE, Couch FJ, Monteiro ANA. An integrative model for the comprehensive classification of BRCA1 and BRCA2 variants of uncertain clinical significance. NPJ Genom Med. 2022 Jun 03; 7(1):35. PMID: 35665744; PMCID: PMC9166814.
      Citations: 5     
    32. Hernandez F, Conner BR, Richardson ME, LaDuca H, Chao E, Pesaran T, Karam R. Classification of the canonical splice alteration MUTYH c.934-2A > G is likely benign based on RNA and clinical data. Cold Spring Harb Mol Case Stud. 2022 01; 8(1). PMID: 34716202; PMCID: PMC8744492.
      Citations: 1     Fields:    Translation:Humans
    33. Garrett A, Loveday C, King L, Butler S, Robinson R, Horton C, Yussuf A, Choi S, Torr B, Durkie M, Burghel GJ, Drummond J, Berry I, Wallace A, Callaway A, Eccles D, Tischkowitz M, Tatton-Brown K, Snape K, McVeigh T, Izatt L, Woodward ER, Burnichon N, Gimenez-Roqueplo AP, Mazzarotto F, Whiffin N, Ware J, Hanson H, Pesaran T, LaDuca H, Buffet A, Maher ER, Turnbull C, Cancer Variant Interpretation Group UK (CanVIG-UK). Quantifying evidence toward pathogenicity for rare phenotypes: The case of succinate dehydrogenase genes, SDHB and SDHD. Genet Med. 2022 01; 24(1):41-50. PMID: 34906457; PMCID: PMC8759765.
      Citations: 4     Fields:    Translation:Humans
    34. Fortuno C, McGoldrick K, Pesaran T, Dolinsky J, Hoang L, Weitzel JN, Beshay V, San Leong H, James PA, Spurdle AB. Suspected clonal hematopoiesis as a natural functional assay of TP53 germline variant pathogenicity. Genet Med. 2022 03; 24(3):673-680. PMID: 34906512.
      Citations: 5     Fields:    Translation:Humans
    35. Fayer S, Horton C, Dines JN, Rubin AF, Richardson ME, McGoldrick K, Hernandez F, Pesaran T, Karam R, Shirts BH, Fowler DM, Starita LM. Closing the gap: Systematic integration of multiplexed functional data resolves variants of uncertain significance in BRCA1, TP53, and PTEN. Am J Hum Genet. 2021 12 02; 108(12):2248-2258. PMID: 34793697; PMCID: PMC8715144.
      Citations: 62     Fields:    Translation:Humans
    36. Yadav S, Hu C, Nathanson KL, Weitzel JN, Goldgar DE, Kraft P, Gnanaolivu RD, Na J, Huang H, Boddicker NJ, Larson N, Gao C, Yao S, Weinberg C, Vachon CM, Trentham-Dietz A, Taylor JA, Sandler DR, Patel A, Palmer JR, Olson JE, Neuhausen S, Martinez E, Lindstrom S, Lacey JV, Kurian AW, John EM, Haiman C, Bernstein L, Auer PW, Anton-Culver H, Ambrosone CB, Karam R, Chao E, Yussuf A, Pesaran T, Dolinsky JS, Hart SN, LaDuca H, Polley EC, Domchek SM, Couch FJ. Germline Pathogenic Variants in Cancer Predisposition Genes Among Women With Invasive Lobular Carcinoma of the Breast. J Clin Oncol. 2021 12 10; 39(35):3918-3926. PMID: 34672684; PMCID: PMC8660003.
      Citations: 27     Fields:    Translation:Humans
    37. Yadav S, LaDuca H, Polley EC, Hu C, Niguidula N, Shimelis H, Lilyquist J, Na J, Lee KY, Gutierrez S, Yussuf A, Hart SN, Davis BT, Chao EC, Pesaran T, Goldgar DE, Dolinsky JS, Couch FJ. Racial and Ethnic Differences in Multigene Hereditary Cancer Panel Test Results for Women With Breast Cancer. J Natl Cancer Inst. 2021 10 01; 113(10):1429-1433. PMID: 33146377; PMCID: PMC8633452.
      Citations: 22     Fields:    Translation:Humans
    38. Fortuno C, Pesaran T, Dolinsky J, Yussuf A, McGoldrick K, Tavtigian SV, Goldgar D, Spurdle AB, James PA. An updated quantitative model to classify missense variants in the TP53 gene: A novel multifactorial strategy. Hum Mutat. 2021 10; 42(10):1351-1361. PMID: 34273903.
      Citations: 7     Fields:    Translation:Humans
    39. Boddicker NJ, Hu C, Weitzel JN, Kraft P, Nathanson KL, Goldgar DE, Na J, Huang H, Gnanaolivu RD, Larson N, Yussuf A, Yao S, Vachon CM, Trentham-Dietz A, Teras L, Taylor JA, Scott CE, Sandler DP, Pesaran T, Patel AV, Palmer JR, Ong IM, Olson JE, O'Brien K, Neuhausen S, Martinez E, Ma H, Lindstrom S, Le Marchand L, Kooperberg C, Karam R, Hunter DJ, Hodge JM, Haiman C, Gaudet MM, Gao C, LaDuca H, Lacey JV, Dolinsky JS, Chao E, Carter BD, Burnside ES, Bertrand KA, Bernstein L, Auer PW, Ambrosone C, Yadav S, Hart SN, Polley EC, Domchek SM, Couch FJ. Risk of Late-Onset Breast Cancer in Genetically Predisposed Women. J Clin Oncol. 2021 11 01; 39(31):3430-3440. PMID: 34292776; PMCID: PMC8547938.
      Citations: 17     Fields:    Translation:Humans
    40. Johnatty SE, Pesaran T, Dolinsky J, Yussuf A, LaDuca H, James PA, O'Mara TA, Spurdle AB. Case-case analysis addressing ascertainment bias for multigene panel testing implicates BRCA1 and PALB2 in endometrial cancer. Hum Mutat. 2021 10; 42(10):1265-1278. PMID: 34245638.
      Citations: 4     Fields:    Translation:HumansCells
    41. Richardson ME, Hu C, Lee KY, LaDuca H, Fulk K, Durda KM, Deckman AM, Goldgar DE, Monteiro ANA, Gnanaolivu R, Hart SN, Polley EC, Chao E, Pesaran T, Couch FJ. Strong functional data for pathogenicity or neutrality classify BRCA2 DNA-binding-domain variants of uncertain significance. Am J Hum Genet. 2021 03 04; 108(3):458-468. PMID: 33609447; PMCID: PMC8008494.
      Citations: 30     Fields:    Translation:HumansCells
    42. Fortuno C, Lee K, Olivier M, Pesaran T, Mai PL, de Andrade KC, Attardi LD, Crowley S, Evans DG, Feng BJ, Foreman AKM, Frone MN, Huether R, James PA, McGoldrick K, Mester J, Seifert BA, Slavin TP, Witkowski L, Zhang L, Plon SE, Spurdle AB, Savage SA, ClinGen TP53 Variant Curation Expert Panel. Specifications of the ACMG/AMP variant interpretation guidelines for germline TP53 variants. Hum Mutat. 2021 03; 42(3):223-236. PMID: 33300245; PMCID: PMC8374922.
      Citations: 91     Fields:    Translation:HumansCells
    43. Hu C, Polley EC, Yadav S, Lilyquist J, Shimelis H, Na J, Hart SN, Goldgar DE, Shah S, Pesaran T, Dolinsky JS, LaDuca H, Couch FJ. The Contribution of Germline Predisposition Gene Mutations to Clinical Subtypes of Invasive Breast Cancer From a Clinical Genetic Testing Cohort. J Natl Cancer Inst. 2020 12 14; 112(12):1231-1241. PMID: 32091585; PMCID: PMC7735776.
      Citations: 51     Fields:    Translation:Humans
    44. Karam R, LaDuca H, Richardson ME, Pesaran T, Chao E. RNA-Seq Analysis Is a Useful Tool in Variant Classification. JCO Precis Oncol. 2020 Nov; 4:1226-1227. PMID: 35050778.
      Citations:    Fields:    
    45. Fortuno C, Pesaran T, Mester J, Dolinsky J, Yussuf A, McGoldrick K, James PA, Spurdle AB. Genotype-phenotype correlations among TP53 carriers: Literature review and analysis of probands undergoing multi-gene panel testing and single-gene testing. Cancer Genet. 2020 10; 248-249:11-17. PMID: 32966936.
      Citations: 10     Fields:    Translation:Humans
    46. Karabachev AD, Martini DJ, Hermel DJ, Solcz D, Richardson ME, Pesaran T, Sarkar IN, Greenblatt MS. Curated multiple sequence alignment for the Adenomatous Polyposis Coli (APC) gene and accuracy of in silico pathogenicity predictions. PLoS One. 2020; 15(8):e0233673. PMID: 32750050; PMCID: PMC7402488.
      Citations: 3     Fields:    Translation:HumansCells
    47. Fortuno C, Mester J, Pesaran T, Weitzel JN, Dolinsky J, Yussuf A, McGoldrick K, Garber JE, Savage SA, Khincha PP, Gareth Evans D, Achatz MI, Nichols KE, Maxwell KN, Schiffman JD, Sandoval R, Li-Fraumeni Exploration (LIFE) Consortium, James PA, Spurdle AB. Suggested application of HER2+ breast tumor phenotype for germline TP53 variant classification within ACMG/AMP guidelines. Hum Mutat. 2020 09; 41(9):1555-1562. PMID: 32485079; PMCID: PMC7484289.
      Citations: 12     Fields:    Translation:Humans
    48. Mester J, Pesaran T. The Evolution of Constitutional Sequence Variant Interpretation. Clin Lab Med. 2020 06; 40(2):135-148. PMID: 32439065.
      Citations:    Fields:    Translation:Humans
    49. Landrith T, Li B, Cass AA, Conner BR, LaDuca H, McKenna DB, Maxwell KN, Domchek S, Morman NA, Heinlen C, Wham D, Koptiuch C, Vagher J, Rivera R, Bunnell A, Patel G, Geurts JL, Depas MM, Gaonkar S, Pirzadeh-Miller S, Krukenberg R, Seidel M, Pilarski R, Farmer M, Pyrtel K, Milliron K, Lee J, Hoodfar E, Nathan D, Ganzak AC, Wu S, Vuong H, Xu D, Arulmoli A, Parra M, Hoang L, Molparia B, Fennessy M, Fox S, Charpentier S, Burdette J, Pesaran T, Profato J, Smith B, Haynes G, Dalton E, Crandall JR, Baxter R, Lu HM, Tippin-Davis B, Elliott A, Chao E, Karam R. Splicing profile by capture RNA-seq identifies pathogenic germline variants in tumor suppressor genes. NPJ Precis Oncol. 2020; 4:4. PMID: 32133419; PMCID: PMC7039900.
      Citations: 38     
    50. Fortuno C, Pesaran T, Dolinsky J, Yussuf A, McGoldrick K, Goldgar D, James PA, Spurdle AB. Differences in patient ascertainment affect the use of gene-specified ACMG/AMP phenotype-related variant classification criteria: Evidence for TP53. Hum Mutat. 2020 03; 41(3):537-542. PMID: 31898864.
      Citations: 1     Fields:    Translation:Humans
    51. Li H, LaDuca H, Pesaran T, Chao EC, Dolinsky JS, Parsons M, Spurdle AB, Polley EC, Shimelis H, Hart SN, Hu C, Couch FJ, Goldgar DE. Classification of variants of uncertain significance in BRCA1 and BRCA2 using personal and family history of cancer from individuals in a large hereditary cancer multigene panel testing cohort. Genet Med. 2020 04; 22(4):701-708. PMID: 31853058; PMCID: PMC7118020.
      Citations: 25     Fields:    Translation:Humans
    52. Karam R, Conner B, LaDuca H, McGoldrick K, Krempely K, Richardson ME, Zimmermann H, Gutierrez S, Reineke P, Hoang L, Allen K, Yussuf A, Farber-Katz S, Rana HQ, Culver S, Lee J, Nashed S, Toppmeyer D, Collins D, Haynes G, Pesaran T, Dolinsky JS, Tippin Davis B, Elliott A, Chao E. Assessment of Diagnostic Outcomes of RNA Genetic Testing for Hereditary Cancer. JAMA Netw Open. 2019 10 02; 2(10):e1913900. PMID: 31642931; PMCID: PMC6820040.
      Citations: 38     Fields:    Translation:Humans
    53. Tian Y, Pesaran T, Chamberlin A, Fenwick RB, Li S, Gau CL, Chao EC, Lu HM, Black MH, Qian D. REVEL and BayesDel outperform other in silico meta-predictors for clinical variant classification. Sci Rep. 2019 09 04; 9(1):12752. PMID: 31484976; PMCID: PMC6726608.
      Citations: 55     Fields:    
    54. LaDuca H, Polley EC, Yussuf A, Hoang L, Gutierrez S, Hart SN, Yadav S, Hu C, Na J, Goldgar DE, Fulk K, Smith LP, Horton C, Profato J, Pesaran T, Gau CL, Pronold M, Davis BT, Chao EC, Couch FJ, Dolinsky JS. A clinical guide to hereditary cancer panel testing: evaluation of gene-specific cancer associations and sensitivity of genetic testing criteria in a cohort of 165,000 high-risk patients. Genet Med. 2020 02; 22(2):407-415. PMID: 31406321; PMCID: PMC7000322.
      Citations: 107     Fields:    Translation:Humans
    55. Li S, Qian D, Thompson BA, Gutierrez S, Wu S, Pesaran T, LaDuca H, Lu HM, Chao EC, Black MH. Tumour characteristics provide evidence for germline mismatch repair missense variant pathogenicity. J Med Genet. 2020 Jan; 57(1):62-69. PMID: 31391288.
      Citations: 4     Fields:    Translation:HumansCells
    56. Richardson ME, Chong H, Mu W, Conner BR, Hsuan V, Willett S, Lam S, Tsai P, Pesaran T, Chamberlin AC, Park MS, Gray P, Karam R, Elliott A. Correction: DNA breakpoint assay reveals a majority of gross duplications occur in tandem reducing VUS classifications in breast cancer predisposition genes. Genet Med. 2019 Jul; 21(7):1669. PMID: 30127414; PMCID: PMC7609259.
      Citations: 2     Fields:    
    57. Fortuno C, Pesaran T, Dolinsky J, Yussuf A, McGoldrick K, Kho PF, James PA, Spurdle AB. p53 major hotspot variants are associated with poorer prognostic features in hereditary cancer patients. Cancer Genet. 2019 06; 235-236:21-27. PMID: 31296311.
      Citations: 10     Fields:    Translation:Humans
    58. Lopez-Perolio I, Leman R, Behar R, Lattimore V, Pearson JF, Cast?ra L, Martins A, Vaur D, Goardon N, Davy G, Garre P, Garc?a-Barber?n V, Llovet P, P?rez-Segura P, D?az-Rubio E, Cald?s T, Hruska KS, Hsuan V, Wu S, Pesaran T, Karam R, Vallon-Christersson J, Borg A, kConFab Investigators, Valenzuela-Palomo A, Velasco EA, Southey M, Vreeswijk MPG, Devilee P, Kvist A, Spurdle AB, Walker LC, Krieger S, de la Hoya M. Alternative splicing and ACMG-AMP-2015-based classification of PALB2 genetic variants: an ENIGMA report. J Med Genet. 2019 07; 56(7):453-460. PMID: 30890586; PMCID: PMC6591742.
      Citations: 18     Fields:    Translation:HumansCells
    59. Lee K, Krempely K, Roberts ME, Anderson MJ, Carneiro F, Chao E, Dixon K, Figueiredo J, Ghosh R, Huntsman D, Kaurah P, Kesserwan C, Landrith T, Li S, Mensenkamp AR, Oliveira C, Pardo C, Pesaran T, Richardson M, Slavin TP, Spurdle AB, Trapp M, Witkowski L, Yi CS, Zhang L, Plon SE, Schrader KA, Karam R. Specifications of the ACMG/AMP variant curation guidelines for the analysis of germline CDH1 sequence variants. Hum Mutat. 2018 11; 39(11):1553-1568. PMID: 30311375; PMCID: PMC6188664.
      Citations: 81     Fields:    Translation:Humans
    60. Mester JL, Ghosh R, Pesaran T, Huether R, Karam R, Hruska KS, Costa HA, Lachlan K, Ngeow J, Barnholtz-Sloan J, Sesock K, Hernandez F, Zhang L, Milko L, Plon SE, Hegde M, Eng C. Gene-specific criteria for PTEN variant curation: Recommendations from the ClinGen PTEN Expert Panel. Hum Mutat. 2018 11; 39(11):1581-1592. PMID: 30311380; PMCID: PMC6329583.
      Citations: 82     Fields:    Translation:Humans
    61. Caleca L, Catucci I, Figlioli G, De Cecco L, Pesaran T, Ward M, Volorio S, Falanga A, Marchetti M, Iascone M, Tondini C, Zambelli A, Azzollini J, Manoukian S, Radice P, Peterlongo P. Two Missense Variants Detected in Breast Cancer Probands Preventing BRCA2-PALB2 Protein Interaction. Front Oncol. 2018; 8:480. PMID: 30410870; PMCID: PMC6210650.
      Citations: 9     
    62. Qian D, Li S, Tian Y, Clifford JW, Sarver BAJ, Pesaran T, Gau CL, Elliott AM, Lu HM, Black MH. A Bayesian framework for efficient and accurate variant prediction. PLoS One. 2018; 13(9):e0203553. PMID: 30212499; PMCID: PMC6136750.
      Citations: 11     Fields:    
    63. Abou Tayoun AN, Pesaran T, DiStefano MT, Oza A, Rehm HL, Biesecker LG, Harrison SM, ClinGen Sequence Variant Interpretation Working Group (ClinGen SVI). Recommendations for interpreting the loss of function PVS1 ACMG/AMP variant criterion. Hum Mutat. 2018 11; 39(11):1517-1524. PMID: 30192042; PMCID: PMC6185798.
      Citations: 433     Fields:    Translation:Humans
    64. Shimelis H, LaDuca H, Hu C, Hart SN, Na J, Thomas A, Akinhanmi M, Moore RM, Brauch H, Cox A, Eccles DM, Ewart-Toland A, Fasching PA, Fostira F, Garber J, Godwin AK, Konstantopoulou I, Nevanlinna H, Sharma P, Yannoukakos D, Yao S, Feng BJ, Tippin Davis B, Lilyquist J, Pesaran T, Goldgar DE, Polley EC, Dolinsky JS, Couch FJ. Triple-Negative Breast Cancer Risk Genes Identified by Multigene Hereditary Cancer Panel Testing. J Natl Cancer Inst. 2018 08 01; 110(8):855-862. PMID: 30099541; PMCID: PMC6093350.
      Citations: 153     Fields:    Translation:Humans
    65. Richardson ME, Chong H, Mu W, Conner BR, Hsuan V, Willett S, Lam S, Tsai P, Pesaran T, Chamberlin AC, Park MS, Gray P, Karam R, Elliott A. DNA breakpoint assay reveals a majority of gross duplications occur in tandem reducing VUS classifications in breast cancer predisposition genes. Genet Med. 2019 03; 21(3):683-693. PMID: 30054569; PMCID: PMC6752314.
      Citations: 17     Fields:    Translation:HumansCells
    66. Hu C, LaDuca H, Shimelis H, Polley EC, Lilyquist J, Hart SN, Na J, Thomas A, Lee KY, Davis BT, Black MH, Pesaran T, Goldgar DE, Dolinsky JS, Couch FJ. Multigene Hereditary Cancer Panels Reveal High-Risk Pancreatic Cancer Susceptibility Genes. JCO Precis Oncol. 2018; 2. PMID: 31497750; PMCID: PMC6731034.
      Citations: 29     Fields:    
    67. Tandy-Connor S, Krempely K, Pesaran T, LaDuca H, Guiltinan J, Davis BT. Advocating for the consumer: clinical confirmation of all direct-to-consumer raw data alterations remains critical. Genet Med. 2019 03; 21(3):760-761. PMID: 29950595.
      Citations: 2     Fields:    
    68. Fortuno C, James PA, Young EL, Feng B, Olivier M, Pesaran T, Tavtigian SV, Spurdle AB. Improved, ACMG-compliant, in silico prediction of pathogenicity for missense substitutions encoded by TP53 variants. Hum Mutat. 2018 08; 39(8):1061-1069. PMID: 29775997; PMCID: PMC6043381.
      Citations: 20     Fields:    Translation:Humans
    69. Weitzel JN, Chao EC, Nehoray B, Van Tongeren LR, LaDuca H, Blazer KR, Slavin T, Facmg DABMD, Pesaran T, Rybak C, Solomon I, Niell-Swiller M, Dolinsky JS, Castillo D, Elliott A, Gau CL, Speare V, Jasperson K. Somatic TP53 variants frequently confound germ-line testing results. Genet Med. 2018 08; 20(8):809-816. PMID: 29189820; PMCID: PMC5976505.
      Citations: 66     Fields:    Translation:HumansCells
    70. Black MH, Li S, Pesaran T, LaDuca H, Karam R, Clifford J, Smith B, Pilarski R. PTEN Promoter Variants Are Not Associated With Common Cancers: Implications for Multigene Panel Testing. JCO Precis Oncol. 2017 Nov; 1:1-7. PMID: 35172517.
      Citations: 2     Fields:    
    71. Couch FJ, Shimelis H, Hu C, Hart SN, Polley EC, Na J, Hallberg E, Moore R, Thomas A, Lilyquist J, Feng B, McFarland R, Pesaran T, Huether R, LaDuca H, Chao EC, Goldgar DE, Dolinsky JS. Associations Between Cancer Predisposition Testing Panel Genes and Breast Cancer. JAMA Oncol. 2017 Sep 01; 3(9):1190-1196. PMID: 28418444; PMCID: PMC5599323.
      Citations: 312     Fields:    Translation:Humans
    72. Harrison SM, Dolinsky JS, Knight Johnson AE, Pesaran T, Azzariti DR, Bale S, Chao EC, Das S, Vincent L, Rehm HL. Clinical laboratories collaborate to resolve differences in variant interpretations submitted to ClinVar. Genet Med. 2017 10; 19(10):1096-1104. PMID: 28301460; PMCID: PMC5600649.
      Citations: 134     Fields:    Translation:Humans
    73. Dolinsky JS, Hruska KS, Pesaran T, Richardson ME, Klein RT, Solomon BD, Gau CL. Efforts Toward Consensus Variant Interpretation by Commercial Laboratories. J Clin Oncol. 2017 04 10; 35(11):1261-1262. PMID: 28135139.
      Citations: 2     Fields:    Translation:Humans
    74. Pesaran T, Karam R, Huether R, Li S, Farber-Katz S, Chamberlin A, Chong H, LaDuca H, Elliott A. Beyond DNA: An Integrated and Functional Approach for Classifying Germline Variants in Breast Cancer Genes. Int J Breast Cancer. 2016; 2016:2469523. PMID: 27822389; PMCID: PMC5086358.
      Citations: 44     
    75. de la Hoya M, Soukarieh O, L?pez-Perolio I, Vega A, Walker LC, van Ierland Y, Baralle D, Santamari?a M, Lattimore V, Wijnen J, Whiley P, Blanco A, Raponi M, Hauke J, Wappenschmidt B, Becker A, Hansen TV, Behar R, Investigators K, Niederacher D, Arnold N, Dworniczak B, Steinemann D, Faust U, Rubinstein W, Hulick PJ, Houdayer C, Caputo SM, Castera L, Pesaran T, Chao E, Brewer C, Southey MC, van Asperen CJ, Singer CF, Sullivan J, Poplawski N, Mai P, Peto J, Johnson N, Burwinkel B, Surowy H, Bojesen SE, Flyger H, Lindblom A, Margolin S, Chang-Claude J, Rudolph A, Radice P, Galastri L, Olson JE, Hallberg E, Giles GG, Milne RL, Andrulis IL, Glendon G, Hall P, Czene K, Blows F, Shah M, Wang Q, Dennis J, Michailidou K, McGuffog L, Bolla MK, Antoniou AC, Easton DF, Couch FJ, Tavtigian S, Vreeswijk MP, Parsons M, Meeks HD, Martins A, Goldgar DE, Spurdle AB. Combined genetic and splicing analysis of BRCA1 c.[594-2A>C; 641A>G] highlights the relevance of naturally occurring in-frame transcripts for developing disease gene variant classification algorithms. Hum Mol Genet. 2016 06 01; 25(11):2256-2268. PMID: 27008870; PMCID: PMC5081057.
      Citations: 51     Fields:    Translation:HumansCells
    76. Karam R, Pesaran T, Chao E. ClinGen and Genetic Testing. N Engl J Med. 2015 10; 373(14):1376-7. PMID: 26422737.
      Citations: 4     Fields:    Translation:Humans
    77. Millson A, Lewis T, Pesaran T, Salvador D, Gillespie K, Gau CL, Pont-Kingdon G, Lyon E, Bayrak-Toydemir P. Processed Pseudogene Confounding Deletion/Duplication Assays for SMAD4. J Mol Diagn. 2015 Sep; 17(5):576-82. PMID: 26165824.
      Citations: 11     Fields:    Translation:Humans
    78. LaDuca H, Stuenkel AJ, Dolinsky JS, Keiles S, Tandy S, Pesaran T, Chen E, Gau CL, Palmaer E, Shoaepour K, Shah D, Speare V, Gandomi S, Chao E. Utilization of multigene panels in hereditary cancer predisposition testing: analysis of more than 2,000 patients. Genet Med. 2014 Nov; 16(11):830-7. PMID: 24763289; PMCID: PMC4225457.
      Citations: 169     Fields:    Translation:Humans
    79. Phan J, Pesaran T, Davis RC, Reue K. The Diet1 locus confers protection against hypercholesterolemia through enhanced bile acid metabolism. J Biol Chem. 2002 Jan 04; 277(1):469-77. PMID: 11682476.
      Citations: 11     Fields:    Translation:Animals
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