Nancy Uhrhammer

Clermont-ferrand, France

Last Updated: 09/26/2026

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Found 48 publications

Case Report: Expansion of the POLD1-related polymerase proofreading-associated polyposis spectrum: first report of duodenal adenocarcinomas and characterization of two likely pathogenic variants.

Case Report: Expansion of the POLD1-related polymerase proofreading-associated polyposis spectrum: first report of duodenal adenocarcinomas and characterization of two likely pathogenic variants.

Journal: Frontiers in oncology

Published: October 17, 2025

Identification of BCL2L11 as a Candidate Gene for Hereditary Predisposition to Non-Medullary Thyroid Cancer Using Familial Whole-Exome-Sequencing.

Identification of BCL2L11 as a Candidate Gene for Hereditary Predisposition to Non-Medullary Thyroid Cancer Using Familial Whole-Exome-Sequencing.

Journal: Clinical genetics

Published: June 16, 2025

Development and validation of a next-generation sequencing-based method for calculating the breast cancer polygenic risk score PRS313.

Development and validation of a next-generation sequencing-based method for calculating the breast cancer polygenic risk score PRS313.

Journal: Breast (Edinburgh, Scotland)

Published: June 13, 2025

Identification of a germline deep intronic PTEN-deletion leading to exonization through whole genome and targeted RNA sequencing.

Identification of a germline deep intronic PTEN-deletion leading to exonization through whole genome and targeted RNA sequencing.

Journal: Familial cancer

Published: November 10, 2024

Prevalence of Constitutional Pathogenic Variant in a Cohort of 348 Patients With Multiple Primary Cancer Addressed in Oncogenetic Consultation.

Prevalence of Constitutional Pathogenic Variant in a Cohort of 348 Patients With Multiple Primary Cancer Addressed in Oncogenetic Consultation.

Journal: Molecular genetics & genomic medicine

Published: October 23, 2024

RNA Panel Sequencing Is an Effective Tool to Help Classify Splice Variants for Clinical Oncogenetic Diagnosis.

RNA Panel Sequencing Is an Effective Tool to Help Classify Splice Variants for Clinical Oncogenetic Diagnosis.

Journal: Human mutation

Published: November 24, 2023

Detection Rate and Spectrum of Pathogenic Variations in a Cohort of 83 Patients with Suspected Hereditary Risk of Kidney Cancer.

Detection Rate and Spectrum of Pathogenic Variations in a Cohort of 83 Patients with Suspected Hereditary Risk of Kidney Cancer.

Journal: Genes

Published: September 13, 2023

Case Series of 11 CDH1 Families (47 Carriers) Including Incidental Findings, Signet Ring Cell Colon Cancer and Review of the Literature.

Case Series of 11 CDH1 Families (47 Carriers) Including Incidental Findings, Signet Ring Cell Colon Cancer and Review of the Literature.

Journal: Genes

Published: July 13, 2023

Diagnosis of PTEN mosaicism: the relevance of additional tumor DNA sequencing. A case report and review of the literature.

Diagnosis of PTEN mosaicism: the relevance of additional tumor DNA sequencing. A case report and review of the literature.

Journal: BMC medical genomics

Published: December 14, 2022

Rare duplication of the CDC73 gene and atypical hyperparathyroidism-jaw tumor syndrome: A case report and review of the literature.

Rare duplication of the CDC73 gene and atypical hyperparathyroidism-jaw tumor syndrome: A case report and review of the literature.

Journal: Molecular genetics & genomic medicine

Published: September 06, 2022

Association and performance of polygenic risk scores for breast cancer among French women presenting or not a familial predisposition to the disease.

Association and performance of polygenic risk scores for breast cancer among French women presenting or not a familial predisposition to the disease.

Journal: European journal of cancer (Oxford, England : 1990)

Published: August 24, 2022

Classification of 101 BRCA1 and BRCA2 variants of uncertain significance by cosegregation study: A powerful approach.

Classification of 101 BRCA1 and BRCA2 variants of uncertain significance by cosegregation study: A powerful approach.

Journal: American journal of human genetics

Published: June 15, 2021

Showing 1-12 of 48

Last Updated: 09/26/2026