All Stories

  1. Pattern multiplicity and fumarate hydratase (FH)/S-(2-succino)-cysteine (2SC) staining but not eosinophilic nucleoli with perinucleolar halos differentiate hereditary leiomyomatosis and renal cell carcinoma-associated renal cell carcinomas from kidney ...

    Article • Modern Pathology, February 2018, Springer Science + Business Media

    Dr Patrick R Benusiglio

  2. Germline CDKN2A /P16INK4A mutations contribute to genetic determinism of sarcoma

    Article • Journal of Medical Genetics, June 2017, BMJ

    Dr Patrick R Benusiglio

  3. Reassessing the clinical spectrum associated with hereditary leiomyomatosis and renal cell carcinoma syndrome in French FH mutation carriers

    Article • Clinical Genetics, May 2017, Wiley

    Dr Patrick R Benusiglio

  4. CDH1 germline mutations: different syndromes, same management?

    Article • Genetics in Medicine, April 2017, Springer Science + Business Media

    Dr Patrick R Benusiglio

  5. Deficit of Risk-Reducing Salpingo-Oophorectomies in BRCA1/2 Mutation Carriers After Telephone Genetic Counseling

    Article • Journal of Clinical Oncology, April 2017, American Society of Clinical Oncology (ASCO)

    Dr Patrick R Benusiglio

  6. Hereditary breast and ovarian cancer: successful systematic implementation of a group approach to genetic counselling

    Article • Familial Cancer, September 2016, Springer Science + Business Media

    Dr Patrick R Benusiglio

  7. Whole-Body MRI Screening in Children With Li-Fraumeni and Other Cancer Predisposition Syndromes.

    Article • American Journal of Roentgenology, March 2016, American Roentgen Ray Society

    Dr Patrick R Benusiglio

  8. Revisiting Li-Fraumeni Syndrome From TP53 Mutation Carriers

    Article • Journal of Clinical Oncology, July 2015, American Society of Clinical Oncology (ASCO)

    Dr Patrick R Benusiglio

  9. Hereditary diffuse gastric cancer syndrome: improved performances of the 2015 testing criteria for the identification of probands with aCDH1germline mutation

    Article • Journal of Medical Genetics, May 2015, BMJ

    Dr Patrick R Benusiglio

  10. Hereditary diffuse gastric cancer: updated clinical guidelines with an emphasis on germlineCDH1mutation carriers

    Article • Journal of Medical Genetics, May 2015, BMJ

    Dr Patrick R Benusiglio

  11. A germline mutation inPBRM1predisposes to renal cell carcinoma

    Article • Journal of Medical Genetics, April 2015, BMJ

    Dr Patrick R Benusiglio

  12. Lobular breast cancer: incidence and genetic and non-genetic risk factors

    Article • March 2015, Springer Science + Business Media

    Dr Patrick R Benusiglio

  13. The Birt-Hogg-Dugé cancer predisposition syndrome: Current challenges

    Article • Intractable & Rare Diseases Research, January 2015, International Research and Cooperation Association for Bio & Socio-Sciences Advancement (IRCA-BSSA)

    Dr Patrick R Benusiglio

  14. Genetic Evidence of a Precisely Tuned Dysregulation in the Hypoxia Signaling Pathway during Oncogenesis

    Article • Cancer Research, November 2014, American Association for Cancer Research (AACR)

    Dr Patrick R Benusiglio

  15. Renal cell tumour characteristics in patients with the Birt-Hogg-Dubé cancer susceptibility syndrome: a retrospective, multicentre study

    Article • Orphanet Journal of Rare Diseases, October 2014, Springer Science + Business Media

    Dr Patrick R Benusiglio

  16. Case Report: Expanding the tumour spectrum associated with the Birt-Hogg-Dubé cancer susceptibility syndrome

    Article • F1000Research, July 2014, Faculty of 1000, Ltd.

    Dr Patrick R Benusiglio

  17. CDH1germline mutations and the hereditary diffuse gastric and lobular breast cancer syndrome: a multicentre study

    Article • Journal of Medical Genetics, May 2013, BMJ

    Dr Patrick R Benusiglio

  18. Cleft lip, cleft palate, hereditary diffuse gastric cancer and germline mutations inCDH1

    Article • International Journal of Cancer, November 2012, Wiley

    Dr Patrick R Benusiglio

  19. Gastrointestinal relapse of multiple myeloma and sustained response to lenalidomide: a case report

    Article • Journal of Medical Case Reports, March 2011, Springer Science + Business Media

    Dr Patrick R Benusiglio, Professor Xavier Montet

  20. Focus onERBB2

    Article • Pharmacogenomics, July 2008, Future Medicine

    Dr Patrick R Benusiglio

  21. Association of single-nucleotide polymorphisms in the cell cycle genes with breast cancer in the British population

    Article • Carcinogenesis, January 2008, Oxford University Press (OUP)

    Dr Patrick R Benusiglio

  22. Common variants in the ATM, BRCA1, BRCA2, CHEK2 and TP53 cancer susceptibility genes are unlikely to increase breast cancer risk

    Article • April 2007, Springer Science + Business Media

    Dr Patrick R Benusiglio

  23. HapMap-based study of the 17q21 ERBB2 amplicon in susceptibility to breast cancer

    Article • British Journal of Cancer, November 2006, Springer Science + Business Media

    Dr Patrick R Benusiglio

  24. Common variation in EMSYand risk of breast and ovarian cancer: a case-control study using HapMap tagging SNPs

    Article • BMC Cancer, July 2005, Springer Science + Business Media

    Dr Patrick R Benusiglio

  25. Reply: a bias in genotyping of the ERBB2 (HER2) Ile655Val variant

    Article • Carcinogenesis, July 2005, Oxford University Press (OUP)

    Dr Patrick R Benusiglio

  26. Common ERBB2 polymorphisms and risk of breast cancer in a white British population: a case–control study

    Article • January 2005, Springer Science + Business Media

    Dr Patrick R Benusiglio