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Fanconi Anaemia, Childhood Cancer and the BRCA Genes

Genes, 2021-09, Vol.12 (10), p.1520

2021

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BRCA1 and BRCA2 pathogenic variant carriers and endometrial cancer risk: A cohort study

European journal of cancer (1990), 2020-09, Vol.136, p.169-175

2020

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Germline Mutations in the CDKN2B Tumor Suppressor Gene Predispose to Renal Cell Carcinoma

Cancer discovery, 2015-07, Vol.5 (7), p.723-729

2015

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Is Reflex Germline BRCA1/2 Testing Necessary in Women Diagnosed with Non-Mucinous High-Grade Epithelial Ovarian Cancer Aged 80 Years or Older?

Cancers, 2023-01, Vol.15 (3), p.730

2023

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A Comprehensive Next Generation Sequencing–Based Genetic Testing Strategy To Improve Diagnosis of Inherited Pheochromocytoma and Paraganglioma

The journal of clinical endocrinology and metabolism, 2013-07, Vol.98 (7), p.E1248-E1256

2013

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Clinical and Molecular Features of Renal and Pheochromocytoma/Paraganglioma Tumor Association Syndrome (RAPTAS): Case Series and Literature Review

The journal of clinical endocrinology and metabolism, 2017-11, Vol.102 (11), p.4013-4022

2017

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Uptake of bilateral-risk-reducing-mastectomy: Prospective analysis of 7195 women at high-risk of breast cancer

Breast (Edinburgh), 2021-12, Vol.60, p.45-52

2021

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Germline TP53 Testing in Breast Cancers: Why, When and How?

Cancers, 2020-12, Vol.12 (12), p.3762

2020

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Cancer Precision-Prevention trial of Metformin in adults with Li Fraumeni syndrome (MILI) undergoing yearly MRI surveillance: a randomised controlled trial protocol

Trials, 2024-02, Vol.25 (1), p.103-103, Article 103

2024

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Real-World Concordance between Germline and Tumour BRCA1/2 Status in Epithelial Ovarian Cancer

Cancers, 2023-12, Vol.16 (1), p.177

2023

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From BRCA1 to Polygenic Risk Scores: Mutation-Associated Risks in Breast Cancer-Related Genes

Breast care (Basel, Switzerland), 2021-06, Vol.16 (3), p.202-213

2021

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Risk of Contralateral Breast Cancer in Women with and without Pathogenic Variants in BRCA1, BRCA2 , and TP53 Genes in Women with Very Early-Onset (<36 Years) Breast Cancer

Cancers, 2020-02, Vol.12 (2), p.378

2020

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Germline ESR2 mutation predisposes to medullary thyroid carcinoma and causes up-regulation of RET expression

Human molecular genetics, 2016-05, Vol.25 (9), p.1836-1845

2016

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RE: Heterozygous BRCA1/BRCA2 and mismatch repair gene pathogenic variants in children and adolescents with cancer

JNCI : Journal of the National Cancer Institute, 2023-02, Vol.115 (2), p.224-225

2023

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Gene Panel Testing for Breast Cancer Reveals Differential Effect of Prior BRCA1/2 Probability

Cancers, 2021-08, Vol.13 (16), p.4154

2021

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Profiling of Somatic Mutations in Phaeochromocytoma and Paraganglioma by Targeted Next Generation Sequencing Analysis

International Journal of Endocrinology, 2015-01, Vol.2015, p.138573-8

2015

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Investigation and Management of Apparently Sporadic Central Nervous System Haemangioblastoma for Evidence of Von Hippel-Lindau Disease

Genes, 2021-09, Vol.12 (9), p.1414

2021

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Hereditary renal cancer patient and public involvement group: A collaborative, consensus decision process to develop a communication tool for patient use

Journal of clinical and translational science, 2023, Vol.7 (1), p.e115-e115, Article e115

2023

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Genome-wide CpG island methylation analysis implicates novel genes in the pathogenesis of renal cell carcinoma

Epigenetics, 2012-03, Vol.7 (3), p.278-290

2012

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Von Hippel-Lindau disease and endocrine tumour susceptibility

Endocrine-related cancer, 2006-06, Vol.13 (2), p.415-425

2006

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SDHA related tumorigenesis: a new case series and literature review for variant interpretation and pathogenicity

Molecular genetics & genomic medicine, 2017-05, Vol.5 (3), p.237-250

2017

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Familial Non-VHL Clear Cell (Conventional) Renal Cell Carcinoma: Clinical Features, Segregation Analysis, and Mutation Analysis of FLCN

Clinical cancer research, 2008-09, Vol.14 (18), p.5925-5930

2008

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Germline FH Mutations Presenting With Pheochromocytoma

The journal of clinical endocrinology and metabolism, 2014-10, Vol.99 (10), p.E2046-E2050

2014

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Germline SDHB Mutations and Familial Renal Cell Carcinoma

JNCI : Journal of the National Cancer Institute, 2008-09, Vol.100 (17), p.1260-1262

2008

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Fanconi Anaemia, Childhood Cancer and the BRCA Genes

BRCA1 and BRCA2 pathogenic variant carriers and endometrial cancer risk: A cohort study

Germline Mutations in the CDKN2B Tumor Suppressor Gene Predispose to Renal Cell Carcinoma

Is Reflex Germline BRCA1/2 Testing Necessary in Women Diagnosed with Non-Mucinous High-Grade Epithelial Ovarian Cancer Aged 80 Years or Older?

A Comprehensive Next Generation Sequencing–Based Genetic Testing Strategy To Improve Diagnosis of Inherited Pheochromocytoma and Paraganglioma

Clinical and Molecular Features of Renal and Pheochromocytoma/Paraganglioma Tumor Association Syndrome (RAPTAS): Case Series and Literature Review

Uptake of bilateral-risk-reducing-mastectomy: Prospective analysis of 7195 women at high-risk of breast cancer

Germline TP53 Testing in Breast Cancers: Why, When and How?

Cancer Precision-Prevention trial of Metformin in adults with Li Fraumeni syndrome (MILI) undergoing yearly MRI surveillance: a randomised controlled trial protocol

Real-World Concordance between Germline and Tumour BRCA1/2 Status in Epithelial Ovarian Cancer

From BRCA1 to Polygenic Risk Scores: Mutation-Associated Risks in Breast Cancer-Related Genes

Risk of Contralateral Breast Cancer in Women with and without Pathogenic Variants in BRCA1, BRCA2 , and TP53 Genes in Women with Very Early-Onset (<36 Years) Breast Cancer

Germline ESR2 mutation predisposes to medullary thyroid carcinoma and causes up-regulation of RET expression

RE: Heterozygous BRCA1/BRCA2 and mismatch repair gene pathogenic variants in children and adolescents with cancer

Gene Panel Testing for Breast Cancer Reveals Differential Effect of Prior BRCA1/2 Probability

Profiling of Somatic Mutations in Phaeochromocytoma and Paraganglioma by Targeted Next Generation Sequencing Analysis

Investigation and Management of Apparently Sporadic Central Nervous System Haemangioblastoma for Evidence of Von Hippel-Lindau Disease

Hereditary renal cancer patient and public involvement group: A collaborative, consensus decision process to develop a communication tool for patient use

Genome-wide CpG island methylation analysis implicates novel genes in the pathogenesis of renal cell carcinoma

Von Hippel-Lindau disease and endocrine tumour susceptibility

SDHA related tumorigenesis: a new case series and literature review for variant interpretation and pathogenicity

Familial Non-VHL Clear Cell (Conventional) Renal Cell Carcinoma: Clinical Features, Segregation Analysis, and Mutation Analysis of FLCN

Tumour risks and genotype-phenotype correlations associated with germline variants in succinate dehydrogenase subunit genes SDHB , SDHC and SDHD

Germline FH Mutations Presenting With Pheochromocytoma

Germline SDHB Mutations and Familial Renal Cell Carcinoma

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