List of works by Patrick R Benusiglio

A germline mutation in PBRM1 predisposes to renal cell carcinoma

scientific article

CDH1 germline mutations and the hereditary diffuse gastric and lobular breast cancer syndrome: a multicentre study

scientific article published on 25 May 2013

CDH1 germline mutations: different syndromes, same management?

scientific article published on 20 April 2017

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

scientific article

Cleft lip, cleft palate, hereditary diffuse gastric cancer and germline mutations in CDH1

scientific article published on 16 November 2012

Clinical implications of CTNNA1 germline mutations in asymptomatic carriers

scientific article published on 04 December 2018

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

scientific article

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

scientific article

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

scientific article published on 23 January 2017

Focus on ERBB2.

scientific article published in July 2008

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

scientific article published on 19 March 2011

Genetic evidence of a precisely tuned dysregulation in the hypoxia signaling pathway during oncogenesis

scientific article published on 4 November 2014

Germline CDKN2A/P16INK4A mutations contribute to genetic determinism of sarcoma ⬇️

scientific article published on 7 June 2017

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

scientific article published on 21 November 2006

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

scientific article

Hereditary diffuse gastric cancer syndrome: improved performances of the 2015 testing criteria for the identification of probands with a CDH1 germline mutation

scientific article published on 29 May 2015

Hereditary diffuse gastric cancer: updated clinical guidelines with an emphasis on germline CDH1 mutation carriers

scientific article

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

scientific article

Low risk of invasive lobular carcinoma of the breast in carriers of BRCA1 (hereditary breast and ovarian cancer) and TP53 (Li-Fraumeni syndrome) germline mutations

scientific article published on 09 November 2018

Overcoming the challenges associated with universal screening for Lynch syndrome in colorectal and endometrial cancer

scientific article published on 15 May 2020

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 kidn

scientific article

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

scientific article published on 16 March 2017

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

scientific article

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

scientific article published on 13 July 2005

Revisiting Li-Fraumeni Syndrome From TP53 Mutation Carriers

scientific article published on 26 May 2015

The Birt-Hogg-Dubé cancer predisposition syndrome: Current challenges

scientific article

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

scientific article published on 01 March 2016

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