Patrick R. Benusiglio

Paris, France

Last Updated: 09/26/2026

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Found 70 publications

Correction: follow-up, cancer risk and mortality in Peutz-Jeghers syndrome: data from the PRED-IdF network.

Correction: follow-up, cancer risk and mortality in Peutz-Jeghers syndrome: data from the PRED-IdF network.

Journal: European journal of human genetics : EJHG

Published: July 03, 2026

Follow-up, cancer risk and mortality in Peutz-Jeghers syndrome: Data from the PRED-IdF network.

Follow-up, cancer risk and mortality in Peutz-Jeghers syndrome: Data from the PRED-IdF network.

Journal: European journal of human genetics : EJHG

Published: November 27, 2025

Expert endoscopic surveillance in CDH1 pathogenic variant carriers seems safe, even after positive (pT1a) biopsies.

Expert endoscopic surveillance in CDH1 pathogenic variant carriers seems safe, even after positive (pT1a) biopsies.

Journal: Journal of medical genetics

Published: September 15, 2025

French recommendations on multi-gene panel testing in renal cell carcinoma.

French recommendations on multi-gene panel testing in renal cell carcinoma.

Journal: European journal of medical genetics

Published: August 13, 2025

A Specific Methylation Class Identifies BAP1-Deficient Meningiomas, Including Meningeal Tumours With Poorly Differentiated Nonrhabdoid Histology.

A Specific Methylation Class Identifies BAP1-Deficient Meningiomas, Including Meningeal Tumours With Poorly Differentiated Nonrhabdoid Histology.

Journal: Neuropathology and applied neurobiology

Published: April 14, 2025

Cancer prognosis and treatment results in patients with PTEN Hamartoma Tumour Syndrome (PHTS)-a European cohort study.

Cancer prognosis and treatment results in patients with PTEN Hamartoma Tumour Syndrome (PHTS)-a European cohort study.

Journal: BJC reports

Published: February 13, 2025

Hereditary diffuse gastric cancer spectrum associated with germline CTNNA1 loss of function revealed by clinical and molecular data from 351 carrier families and over 37 000 non-carrier controls.

Hereditary diffuse gastric cancer spectrum associated with germline CTNNA1 loss of function revealed by clinical and molecular data from 351 carrier families and over 37 000 non-carrier controls.

Journal: Gut

Published: December 16, 2024

MLH1 Constitutional Epimutation Screening Requires Highly Sensitive Assays to Identify Lynch Syndrome Patients With Very Low Mosaic Methylation Level.

MLH1 Constitutional Epimutation Screening Requires Highly Sensitive Assays to Identify Lynch Syndrome Patients With Very Low Mosaic Methylation Level.

Journal: Human mutation

Published: November 29, 2024

Deciphering dual clinical entities associated with TP53 pathogenic variants: Insights from 53,085 HBOC panel analyses in French laboratories.

Deciphering dual clinical entities associated with TP53 pathogenic variants: Insights from 53,085 HBOC panel analyses in French laboratories.

Journal: International journal of cancer

Published: September 26, 2024

Penetrance of interstitial lung disease and lung cancer in carriers of SFTPA1 or SFTPA2 pathogenic variants.

Penetrance of interstitial lung disease and lung cancer in carriers of SFTPA1 or SFTPA2 pathogenic variants.

Journal: ERJ open research

Published: September 13, 2024

Pathogenic germline variants in patients with early-onset colorectal cancer according to phenotype.

Pathogenic germline variants in patients with early-onset colorectal cancer according to phenotype.

Journal: European journal of human genetics : EJHG

Published: August 30, 2024

The risk of a second primary cancer in PTEN Hamartoma Tumor Syndrome (PHTS).

The risk of a second primary cancer in PTEN Hamartoma Tumor Syndrome (PHTS).

Journal: Genetics in medicine : official journal of the American College of Medical Genetics

Published: August 12, 2024

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Last Updated: 09/26/2026