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Huma Q Rana, M.D.


The research activities and funding listed below are automatically derived from NIH ExPORTER and other sources, which might result in incorrect or missing items. Faculty can login to make corrections and additions.
  1. R01HG011928 (RANA, HUMA Q) Sep 22, 2021 - Jun 30, 2025
    A Stakeholder Informed Randomized Trial of Pretest Video Education vs Standard Genetic Counseling for Cancer Patients: Evaluating the Impact on Patients, Providers and Practices
    Role: Principal Investigator

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. Koeller DR, Schwartz A, DeSimone MS, Rana HQ, Rojas-Rudilla V, Russell-Goldman E, Laga AC, Lindeman NI, Garber JE, Ghazani AA. Vulvar Melanoma in association with germline MITF p.E318K variant. Cancer Genet. 2022 Apr; 262-263:102-106. PMID: 35220194.
    Citations:    Fields:    
  2. Adib E, El Zarif T, Nassar AH, Akl EW, Abou Alaiwi S, Mouhieddine TH, Esplin ED, Hatchell K, Nielsen SM, Rana HQ, Choueiri TK, Kwiatkowski DJ, Sonpavde G. CDH1 germline variants are enriched in patients with colorectal cancer, gastric cancer, and breast cancer. Br J Cancer. 2022 03; 126(5):797-803. PMID: 34949788.
    Citations: 1     Fields:    Translation:Humans
  3. Bychkovsky BL, Lo MT, Yussuf A, Horton C, Richardson M, LaDuca H, Garber JE, Rana HQ. Prevalence and spectrum of pathogenic variants among patients with multiple primary cancers evaluated by clinical characteristics. Cancer. 2022 03 15; 128(6):1275-1283. PMID: 34875721.
    Citations:    Fields:    Translation:Humans
  4. Manning DK, Shivdasani P, Koeller DR, Schwartz A, Rana HQ, Garber JE, Lindeman NI, Ghazani AA. Assessment of genomic alterations in non-syndromic von Hippel-Lindau: Insight from integrating somatic and germline next generation sequencing genomic data. Data Brief. 2021 Dec; 39:107653. PMID: 34934780.
  5. Schwartz AN, Hyman SR, Stokes SM, Castillo D, Tung NM, Weitzel JN, Rana HQ, Garber JE. Evaluation of TP53 Variants Detected on Peripheral Blood or Saliva Testing: Discerning Germline From Somatic TP53 Variants. JCO Precis Oncol. 2021 11; 5:1677-1686. PMID: 34994652.
    Citations:    Fields:    
  6. Kamihara J, Horton C, Tian Y, Zhou J, Richardson M, LaDuca H, Rana HQ. Different Fumarate Hydratase Gene Variants Are Associated With Distinct Cancer Phenotypes. JCO Precis Oncol. 2021 11; 5:1568-1578. PMID: 34994643.
    Citations:    Fields:    
  7. Rana HQ, Koeller DR, Schwartz A, Manning DK, Schneider KA, Krajewski KM, Choueiri TK, Lindeman NI, Garber JE, Ghazani AA. Pathogenicity of VHL variants in families with non-syndromic von Hippel-Lindau phenotypes: An integrated evaluation of germline and somatic genomic results. Eur J Med Genet. 2021 Dec; 64(12):104359. PMID: 34628056.
    Citations: 1     Fields:    Translation:Humans
  8. Reilly CR, Myllymäki M, Redd R, Padmanaban S, Karunakaran D, Tesmer V, Tsai FD, Gibson CJ, Rana HQ, Zhong L, Saber W, Spellman SR, Hu ZH, Orr EH, Chen MM, De Vivo I, DeAngelo DJ, Cutler C, Antin JH, Neuberg D, Garber JE, Nandakumar J, Agarwal S, Lindsley RC. The clinical and functional effects of TERT variants in myelodysplastic syndrome. Blood. 2021 09 09; 138(10):898-911. PMID: 34019641.
    Citations: 2     Fields:    Translation:HumansCTClinical Trials
  9. Wang V, Geybels MS, Jordahl KM, Gerke T, Hamid A, Penney KL, Markt SC, Freedman M, Pomerantz M, Lee GM, Rana H, Börnigen D, Rebbeck TR, Huttenhower C, Eeles RA, Stanford JL, Consortium P, Berndt SI, Claessens F, Sørensen KD, Park JY, Vega A, Usmani N, Mucci L, Sweeney CJ. A polymorphism in the promoter of FRAS1 is a candidate SNP associated with metastatic prostate cancer. Prostate. 2021 07; 81(10):683-693. PMID: 33956343.
    Citations: 1     Fields:    Translation:HumansCells
  10. Abou Alaiwi S, Nassar AH, Adib E, Groha SM, Akl EW, McGregor BA, Esplin ED, Yang S, Hatchell K, Fusaro V, Nielsen S, Kwiatkowski DJ, Sonpavde GP, Pomerantz M, Garber JE, Freedman ML, Rana HQ, Gusev A, Choueiri TK. Trans-ethnic variation in germline variants of patients with renal cell carcinoma. Cell Rep. 2021 03 30; 34(13):108926. PMID: 33789101.
    Citations: 3     Fields:    Translation:Humans
  11. Ghazani AA, Breen KM, Dwan M, Barletta JA, Vatnick DR, Stokes SM, Block C, Doherty GM, Cohn AY, Marqusee E, Garber JE, Rana HQ. Unexpected Pathogenic RET p.V804M Variant Leads to the Clinical Diagnosis and Management of Medullary Thyroid Carcinoma. Am J Case Rep. 2020 Dec 27; 21:e927415. PMID: 33361738.
    Citations:    Fields:    Translation:Humans
  12. Rana HQ, Kipnis L, Hehir K, Cronin A, Jaung T, Stokes SM, Fekrmandi F, Vatnick D, Matulonis UA, Garber JE, Wright AA. Embedding a genetic counselor into oncology clinics improves testing rates and timeliness for women with ovarian cancer. Gynecol Oncol. 2021 02; 160(2):457-463. PMID: 33229043.
    Citations: 3     Fields:    Translation:Humans
  13. Nassar AH, Abou Alaiwi S, AlDubayan SH, Moore N, Mouw KW, Kwiatkowski DJ, Choueiri TK, Curran C, Berchuck JE, Harshman LC, Nuzzo PV, Chanza NM, Van Allen E, Esplin ED, Yang S, Callis T, Garber JE, Rana HQ, Sonpavde G. Prevalence of pathogenic germline cancer risk variants in high-risk urothelial carcinoma. Genet Med. 2020 04; 22(4):709-718. PMID: 31844177.
    Citations: 11     Fields:    Translation:HumansCells
  14. 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.
    Citations: 14     Fields:    Translation:Humans
  15. Rana HQ, Clifford J, Hoang L, LaDuca H, Black MH, Li S, McGoldrick K, Speare V, Dolinsky JS, Gau CL, Garber JE. Genotype-phenotype associations among panel-based TP53+ subjects. Genet Med. 2019 11; 21(11):2478-2484. PMID: 31105275.
    Citations: 2     Fields:    Translation:Humans
  16. Rana HQ, Sacca R, Drogan C, Gutierrez S, Schlosnagle E, Regan MM, Speare V, LaDuca H, Dolinsky J, Garber JE, Overmoyer BA. Prevalence of germline variants in inflammatory breast cancer. Cancer. 2019 07 01; 125(13):2194-2202. PMID: 30933323.
    Citations: 9     Fields:    Translation:Humans
  17. Finkelstein DM, Horick NK, Ramchandani R, Boyd KL, Rana HQ, Bychkovsky BL. Are rare cancer survivors at elevated risk of subsequent new cancers? BMC Cancer. 2019 Feb 21; 19(1):166. PMID: 30791872.
    Citations:    Fields:    Translation:Humans
  18. Sacca RE, Koeller DR, Rana HQ, Garber JE, Morganstern DE. Trans-counseling: A case series of transgender individuals at high risk for BRCA1 pathogenic variants. J Genet Couns. 2019 06; 28(3):708-716. PMID: 30680866.
    Citations: 1     Fields:    Translation:Humans
  19. Rana HQ, Gelman R, LaDuca H, McFarland R, Dalton E, Thompson J, Speare V, Dolinsky JS, Chao EC, Garber JE. Differences in TP53 Mutation Carrier Phenotypes Emerge From Panel-Based Testing. J Natl Cancer Inst. 2018 08 01; 110(8):863-870. PMID: 29529297.
    Citations: 24     Fields:    Translation:HumansCells
  20. Vaidya A, Flores SK, Cheng ZM, Nicolas M, Deng Y, Opotowsky AR, Lourenço DM, Barletta JA, Rana HQ, Pereira MA, Toledo RA, Dahia PLM. EPAS1 Mutations and Paragangliomas in Cyanotic Congenital Heart Disease. N Engl J Med. 2018 03 29; 378(13):1259-1261. PMID: 29601261.
    Citations: 15     Fields:    Translation:Humans
  21. Rana HQ, Cochrane SR, Hiller E, Akindele RN, Nibecker CM, Svoboda LA, Cronin AM, Garber JE, Lathan CS. A comparison of cancer risk assessment and testing outcomes in patients from underserved vs. tertiary care settings. J Community Genet. 2018 Jul; 9(3):233-241. PMID: 29151150.
    Citations: 4     
  22. Haugh AM, Njauw CN, Bubley JA, Verzì AE, Zhang B, Kudalkar E, VandenBoom T, Walton K, Swick BL, Kumar R, Rana HQ, Cochrane S, McCormick SR, Shea CR, Tsao H, Gerami P. Genotypic and Phenotypic Features of BAP1 Cancer Syndrome: A Report of 8 New Families and Review of Cases in the Literature. JAMA Dermatol. 2017 10 01; 153(10):999-1006. PMID: 28793149.
    Citations: 27     Fields:    Translation:Humans
  23. Else T, Lerario AM, Everett J, Haymon L, Wham D, Mullane M, Wilson TL, Rainville I, Rana H, Worth AJ, Snyder NW, Blair IA, McKay R, Kilbridge K, Hammer G, Barletta J, Vaidya A. Adrenocortical carcinoma and succinate dehydrogenase gene mutations: an observational case series. Eur J Endocrinol. 2017 Nov; 177(5):439-444. PMID: 28819017.
    Citations: 11     Fields:    Translation:Humans
  24. Q Rana H, Syngal S. Biallelic Mismatch Repair Deficiency: Management and Prevention of a Devastating Manifestation of the Lynch Syndrome. Gastroenterology. 2017 05; 152(6):1254-1257. PMID: 28327367.
    Citations: 3     Fields:    Translation:HumansCells
  25. Ghazani AA, Oliver NM, St Pierre JP, Garofalo A, Rainville IR, Hiller E, Treacy DJ, Rojas-Rudilla V, Wood S, Bair E, Parello M, Huang F, Giannakis M, Wilson FH, Stover EH, Corsello SM, Nguyen T, Rana HQ, Church AJ, Lowenstein C, Cibulskis C, Amin-Mansour A, Heng J, Brais L, Santos A, Bauer P, Waldron A, Lo P, Gorman M, Lydon CA, Welch M, McNamara P, Gabriel S, Sholl LM, Lindeman NI, Garber JE, Joffe S, Van Allen EM, Gray SW, Ja Nne PA, Garraway LA, Wagle N. Assigning clinical meaning to somatic and germ-line whole-exome sequencing data in a prospective cancer precision medicine study. Genet Med. 2017 07; 19(7):787-795. PMID: 28125075.
    Citations: 20     Fields:    Translation:Humans
  26. Gray SW, Gollust SE, Carere DA, Chen CA, Cronin A, Kalia SS, Rana HQ, Ruffin MT, Wang C, Roberts JS, Green RC. Personal Genomic Testing for Cancer Risk: Results From the Impact of Personal Genomics Study. J Clin Oncol. 2017 Feb 20; 35(6):636-644. PMID: 27937091.
    Citations: 12     Fields:    Translation:Humans
  27. Daly MB, Pilarski R, Axilbund JE, Berry M, Buys SS, Crawford B, Farmer M, Friedman S, Garber JE, Khan S, Klein C, Kohlmann W, Kurian A, Litton JK, Madlensky L, Marcom PK, Merajver SD, Offit K, Pal T, Rana H, Reiser G, Robson ME, Shannon KM, Swisher E, Voian NC, Weitzel JN, Whelan A, Wick MJ, Wiesner GL, Dwyer M, Kumar R, Darlow S. Genetic/Familial High-Risk Assessment: Breast and Ovarian, Version 2.2015. J Natl Compr Canc Netw. 2016 02; 14(2):153-62. PMID: 26850485.
    Citations: 69     Fields:    Translation:Humans
  28. Renella R, Carnevale J, Schneider KA, Hornick JL, Rana HQ, Janeway KA. Exploring the association of succinate dehydrogenase complex mutations with lymphoid malignancies. Fam Cancer. 2014 Sep; 13(3):507-11. PMID: 24781345.
    Citations: 9     Fields:    Translation:Humans
  29. Rana HQ, Rainville IR, Vaidya A. Genetic testing in the clinical care of patients with pheochromocytoma and paraganglioma. Curr Opin Endocrinol Diabetes Obes. 2014 Jun; 21(3):166-76. PMID: 24739310.
    Citations: 6     Fields:    Translation:Humans
  30. Kamihara J, Rana HQ, Garber JE. Germline TP53 mutations and the changing landscape of Li-Fraumeni syndrome. Hum Mutat. 2014 Jun; 35(6):654-62. PMID: 24706533.
    Citations: 57     Fields:    Translation:Humans
  31. Alcalay RN, Dinur T, Quinn T, Sakanaka K, Levy O, Waters C, Fahn S, Dorovski T, Chung WK, Pauciulo M, Nichols W, Rana HQ, Balwani M, Bier L, Elstein D, Zimran A. Comparison of Parkinson risk in Ashkenazi Jewish patients with Gaucher disease and GBA heterozygotes. JAMA Neurol. 2014 Jun; 71(6):752-7. PMID: 24756352.
    Citations: 64     Fields:    Translation:Humans
  32. Rainville IR, Rana HQ. Next-generation sequencing for inherited breast cancer risk: counseling through the complexity. Curr Oncol Rep. 2014 Mar; 16(3):371. PMID: 24488544.
    Citations: 20     Fields:    Translation:Humans
  33. Rana HQ, Balwani M, Bier L, Alcalay RN. Age-specific Parkinson disease risk in GBA mutation carriers: information for genetic counseling. Genet Med. 2013 Feb; 15(2):146-9. PMID: 22935721.
    Citations: 37     Fields:    Translation:Humans
  34. Rajput V, Rana HQ. Incidence of pregnancy-associated venous thromboembolism. Ann Intern Med. 2006 Mar 21; 144(6):453; author reply 454-5. PMID: 16549863.
    Citations:    Fields:    Translation:Humans
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Funded by the NIH National Center for Advancing Translational Sciences through its Clinical and Translational Science Awards Program, grant number UL1TR002541.