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Barbara Pasini

Barbara Pasini

D-Index & Metrics

Genetics

D-Index
60
Citations
20487
World Ranking
3116
National Ranking
64

Overview

Barbara Pasini is affiliated with the University of Turin in Italy and has a research focus spanning multiple areas within medicine and biochemistry, genetics, and molecular biology.

The scientist's research output includes a significant emphasis on genetics and oncology, with notable contributions in subfields such as genetics, molecular biology, oncology, endocrinology, diabetes and metabolism, and cancer research.

Barbara Pasini's main topics of work include:

  • BRCA gene mutations in cancer
  • Hormonal Regulation and Hypertension
  • Cancer Genomics and Diagnostics
  • CRISPR and Genetic Engineering
  • Genetic factors in colorectal cancer
  • Genetics and Neurodevelopmental Disorders
  • DNA Repair Mechanisms

The scientist has coauthored publications frequently alongside the following researchers:

  • Franco Veglio
  • Paolo Radice
  • Siranoush Manoukian
  • Ugo De Giorgi
  • Massimo Di Maïo

Barbara Pasini has published in several journals, with recurring publications in venues such as:

  • Hypertension
  • Genetics in Medicine
  • Cancers
  • Melanoma Research
  • ESMO Open

Selected recent papers illustrate the scope and variety of the scientist's work:

  • "Prevalence of Hypokalemia and Primary Aldosteronism in 5100 Patients Referred to a Tertiary Hypertension Unit," 2020, Hypertension
  • "Implementation of preventive and predictive BRCA testing in patients with breast, ovarian, pancreatic, and prostate cancer: a position paper of Italian Scientific Societies," 2022, ESMO Open
  • "Risks of breast and ovarian cancer for women harboring pathogenic missense variants in BRCA1 and BRCA2 compared with those harboring protein truncating variants," 2021, Genetics in Medicine
  • "Collision of germline POLE and PMS2 variants in a young patient treated with immune checkpoint inhibitors," 2022, npj Precision Oncology
  • "Skewed X-chromosome inactivation in unsolved neurodevelopmental disease cases can guide re-evaluation For X-linked genes," 2023, European Journal of Human Genetics

Best Publications

  • Average risks of breast and ovarian cancer associated with BRCA1 or BRCA2 mutations detected in case series unselected for family history: a combined analysis of 22 studies

    A. Antoniou;P.D.P. Pharoah;S. Narod;H.A. Risch

  • A mutation in the RET proto-oncogene associated with multiple endocrine neoplasia type 2B and sporadic medullary thyroid carcinoma

    Robert M. W. Hofstra;Rudy M. Landsvater;Isabella Ceccherini;Rein P. Stulp

  • Point mutations affecting the tyrosine kinase domain of the RET proto-oncogene in Hirschsprung's disease

    Giovanni Romeo;Patrizia Ronchetto;Yin Luo;Virginia Barone

  • Salpingo-oophorectomy and the Risk of Ovarian, Fallopian Tube, and Peritoneal Cancers in Women With a BRCA1 or BRCA2 Mutation

    Amy Finch;Mario Beiner;Jan Lubinski;Henry T. Lynch

  • Pathology of Breast and Ovarian Cancers among BRCA1 and BRCA2 Mutation Carriers: Results from the Consortium of Investigators of Modifiers of BRCA1/2 (CIMBA).

    Nasim Mavaddat;Daniel Barrowdale;Irene L. Andrulis;Susan M. Domchek

  • Tamoxifen and risk of contralateral breast cancer in BRCA1 and BRCA2 mutation carriers: a case-control study

    Steven A. Narod;Jean Sébastien Brunet;Parviz Ghadirian;Mark Robson

  • The BOADICEA model of genetic susceptibility to breast and ovarian cancers: updates and extensions.

    A C Antoniou;A P Cunningham;J Peto;D G Evans

  • Clinical and molecular genetics of patients with the Carney-Stratakis syndrome and germline mutations of the genes coding for the succinate dehydrogenase subunits SDHB, SDHC, and SDHD.

    Barbara Pasini;Sarah R. McWhinney;Thalia Bei;Ludmila Matyakhina

  • Association of type and location of BRCA1 and BRCA2 mutations with risk of breast and ovarian cancer.

    Timothy R. Rebbeck;Nandita Mitra;Fei Wan;Olga M. Sinilnikova

  • Recurrent Somatic DICER1 Mutations in Nonepithelial Ovarian Cancers

    Alireza Heravi-Moussavi;Michael S Anglesio;S-W Grace Cheng;Janine Senz

  • Oral contraceptives and the risk of breast cancer in BRCA1 and BRCA2 mutation carriers

    Steven A. Narod;Marie Pierre Dubé;Jan Klijn;Jan Lubinski

  • Mutational spectrum in a worldwide study of 29,700 families with BRCA1 or BRCA2 mutations

    Timothy R. Rebbeck;Tara M. Friebel;Eitan Friedman;Ute Hamann

  • Familial Gastrointestinal Stromal Tumors and Germ-Line Mutations

    Sarah R McWhinney;Barbara Pasini;Constantine A Stratakis

  • The full oncogenic activity of Ret/ptc2 depends on tyrosine 539, a docking site for phospholipase Cgamma

    Maria Grazia Borrello;Luisella Alberti;Elena Arighi;Italia Bongarzone

  • Loss of function effect of RET mutations causing Hirschsprung disease

    Barbara Pasini;Maria Grazia Borrello;Angela Greco;Italia Bongarzone

  • RET mutations in human disease

    Barbara Pasini;Isabella Ceccherini;Giovanni Romeo;Giovanni Romeo

  • Effect of pregnancy as a risk factor for breast cancer in BRCA1/BRCA2 mutation carriers.

    Carey A. Cullinane;Jan Lubinski;Susan L. Neuhausen;Parviz Ghadirian

  • Does chromosome 17 centromere copy number predict polysomy in breast cancer? A fluorescence in situ hybridization and microarray-based CGH analysis†

    Caterina Marchiò;Maryou B Lambros;Patrizia Gugliotta;Ludovica Verdun Di Cantogno

  • The Italian multi-centre project on evaluation of MRI and other imaging modalities in early detection of breast cancer in subjects at high genetic risk.

    Podo F;Sardanelli F;Canese R;D'Agnolo G

  • Extending the phenotypes associated with DICER1 mutations.

    William D. Foulkes;William D. Foulkes;William D. Foulkes;Amin Bahubeshi;Amin Bahubeshi;Nancy Hamel;Nancy Hamel;Barbara Pasini

Frequent Co-Authors

Paolo Radice
Paolo Radice Fondazione IRCCS Istituto Nazionale dei Tumori
Siranoush Manoukian
Siranoush Manoukian University of Milan
Jan Lubinski
Jan Lubinski Pomeranian Medical University
Fergus J. Couch
Fergus J. Couch Mayo Clinic
Susan L. Neuhausen
Susan L. Neuhausen City Of Hope National Medical Center
Nadine Tung
Nadine Tung Beth Israel Deaconess Medical Center
Steven A. Narod
Steven A. Narod University of Toronto
William D. Foulkes
William D. Foulkes McGill University
Beth Y. Karlan
Beth Y. Karlan University of California, Los Angeles

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