Found: 36
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Pathogenic germline variants in patients with features of hereditary renal cell carcinoma: Evidence for further locus heterogeneity.
- Published in:
- Genes, Chromosomes & Cancer, 2021, v. 60, n. 1, p. 5, doi. 10.1002/gcc.22893
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- Publication type:
- Article
Characterization of renal cell carcinoma‐associated constitutional chromosome abnormalities by genome sequencing.
- Published in:
- Genes, Chromosomes & Cancer, 2020, v. 59, n. 6, p. 333, doi. 10.1002/gcc.22833
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- Publication type:
- Article
Population-based survey of cancer risks in chromosome 3 translocation carriers.
- Published in:
- Genes, Chromosomes & Cancer, 2010, v. 49, n. 1, p. 52, doi. 10.1002/gcc.20718
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- Publication type:
- Article
Postpartum Breast Cancer and Survival in Women With Germline BRCA Pathogenic Variants.
- Published in:
- JAMA Network Open, 2024, v. 7, n. 4, p. e247421, doi. 10.1001/jamanetworkopen.2024.7421
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- Publication type:
- Article
Germline SDHB Mutations and Familial Renal Cell Carcinoma.
- Published in:
- JNCI: Journal of the National Cancer Institute, 2008, v. 100, n. 17, p. 1260, doi. 10.1093/jnci/djn254
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- Publication type:
- Article
Fanconi Anaemia, Childhood Cancer and the BRCA Genes.
- Published in:
- Genes, 2021, v. 12, n. 10, p. 1520, doi. 10.3390/genes12101520
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- Publication type:
- Article
Investigation and Management of Apparently Sporadic Central Nervous System Haemangioblastoma for Evidence of Von Hippel–Lindau Disease.
- Published in:
- Genes, 2021, v. 12, n. 9, p. 1414, doi. 10.3390/genes12091414
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- Publication type:
- Article
BRCA1/2 in non-mucinous epithelial ovarian cancer: tumour with or without germline testing?
- Published in:
- 2022
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- Publication type:
- journal article
Breast cancer incidence and early diagnosis in a family history risk and prevention clinic: 33-year experience in 14,311 women.
- Published in:
- Breast Cancer Research & Treatment, 2021, v. 189, n. 3, p. 677, doi. 10.1007/s10549-021-06333-1
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- Publication type:
- Article
RE: Heterozygous BRCA1/BRCA2 and mismatch repair gene pathogenic variants in children and adolescents with cancer.
- Published in:
- JNCI: Journal of the National Cancer Institute, 2023, v. 115, n. 2, p. 224, doi. 10.1093/jnci/djac223
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- Publication type:
- Article
Cancer risks by sex and variant type in PTEN hamartoma tumor syndrome.
- Published in:
- JNCI: Journal of the National Cancer Institute, 2023, v. 115, n. 1, p. 93, doi. 10.1093/jnci/djac188
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- Publication type:
- Article
Rapid reversal of clinical down‐classification of a BRCA1 splicing variant avoiding psychological harm.
- Published in:
- Clinical Genetics, 2019, v. 95, n. 4, p. 532, doi. 10.1111/cge.13488
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- Publication type:
- Article
Cascade screening in HBOC and Lynch syndrome: guidelines and procedures in a UK centre.
- Published in:
- Familial Cancer, 2024, v. 23, n. 2, p. 187, doi. 10.1007/s10689-024-00360-9
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- Publication type:
- Article
Perspectives on the implications of carrying putative pathogenic variants in the medulloblastoma predisposition genes ELP1 and GPR161.
- Published in:
- 2023
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- Publication type:
- Case Study
Extended gene panel testing in lobular breast cancer.
- Published in:
- Familial Cancer, 2022, v. 21, n. 2, p. 129, doi. 10.1007/s10689-021-00241-5
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- Publication type:
- Article
New surveillance guidelines for Li-Fraumeni and hereditary TP53 related cancer syndrome: implications for germline TP53 testing in breast cancer.
- Published in:
- 2021
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- Publication type:
- Editorial
Germline FH mutations presenting with pheochromocytoma.
- Published in:
- 2014
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- Publication type:
- journal article
A comprehensive next generation sequencing-based genetic testing strategy to improve diagnosis of inherited pheochromocytoma and paraganglioma.
- Published in:
- 2013
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- Publication type:
- journal article
Profiling of Somatic Mutations in Phaeochromocytoma and Paraganglioma by Targeted Next Generation Sequencing Analysis.
- Published in:
- International Journal of Endocrinology, 2015, v. 2015, p. 1, doi. 10.1155/2015/138573
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- Publication type:
- Article
Cancer Precision-Prevention trial of Metformin in adults with Li Fraumeni syndrome (MILI) undergoing yearly MRI surveillance: a randomised controlled trial protocol.
- Published in:
- Trials, 2024, v. 25, n. 1, p. 1, doi. 10.1186/s13063-024-07929-w
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- Publication type:
- Article
Tumor risks and genotype-phenotype-proteotype analysis in 358 patients with germline mutations in SDHB and SDHD.
- Published in:
- Human Mutation, 2010, v. 31, n. 1, p. 41, doi. 10.1002/humu.21136
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- Publication type:
- Article
Genotype-phenotype correlations in von Hippel-Lindau disease.
- Published in:
- Human Mutation, 2007, v. 28, n. 2, p. 143, doi. 10.1002/humu.20385
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- Publication type:
- Article
Real-World Concordance between Germline and Tumour BRCA1/2 Status in Epithelial Ovarian Cancer.
- Published in:
- Cancers, 2024, v. 16, n. 1, p. 177, doi. 10.3390/cancers16010177
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- Publication type:
- Article
Is Reflex Germline BRCA1/2 Testing Necessary in Women Diagnosed with Non-Mucinous High-Grade Epithelial Ovarian Cancer Aged 80 Years or Older?
- Published in:
- Cancers, 2023, v. 15, n. 3, p. 730, doi. 10.3390/cancers15030730
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- Publication type:
- Article
Gene Panel Testing for Breast Cancer Reveals Differential Effect of Prior BRCA1/2 Probability.
- Published in:
- Cancers, 2021, v. 13, n. 16, p. 4154, doi. 10.3390/cancers13164154
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- Publication type:
- Article
Germline TP53 Testing in Breast Cancers: Why, When and How?
- Published in:
- Cancers, 2020, v. 12, n. 12, p. 3762, doi. 10.3390/cancers12123762
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- Publication type:
- Article
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.
- Published in:
- Cancers, 2020, v. 12, n. 2, p. 378, doi. 10.3390/cancers12020378
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- Publication type:
- Article
VHL mutation analysis in patients with isolated central nervous system haemangioblastoma.
- Published in:
- Brain: A Journal of Neurology, 2007, v. 130, n. 3, p. 836, doi. 10.1093/brain/awl362
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- Publication type:
- Article
Identification of BRCA1-deficient ovarian cancers.
- Published in:
- 2011
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- Publication type:
- journal article
Concern regarding classification of germline TP53 variants as likely pathogenic.
- Published in:
- Human Mutation, 2019, v. 40, n. 6, p. 828, doi. 10.1002/humu.23750
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- Publication type:
- Article
UBE2 QL1 is Disrupted by a Constitutional Translocation Associated with Renal Tumor Predisposition and is a Novel Candidate Renal Tumor Suppressor Gene.
- Published in:
- Human Mutation, 2013, v. 34, n. 12, p. 1650, doi. 10.1002/humu.22433
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- Publication type:
- Article
Corrigendum: Contrasting effects on HIF-1α regulation by disease-causing pVHL mutations correlate with patterns of tumourigenesis in von Hippel-Lindau disease.
- Published in:
- Human Molecular Genetics, 2021, v. 30, n. 9, p. 844, doi. 10.1093/hmg/ddab037
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- Publication type:
- Article
Specialist oncological surgery for removal of the ovaries and fallopian tubes in BRCA1 and BRCA2 pathogenic variant carriers may reduce primary peritoneal cancer risk to very low levels.
- Published in:
- International Journal of Cancer, 2021, v. 148, n. 5, p. 1155, doi. 10.1002/ijc.33378
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- Publication type:
- Article
SDHA related tumorigenesis: a new case series and literature review for variant interpretation and pathogenicity.
- Published in:
- Molecular Genetics & Genomic Medicine, 2017, v. 5, n. 3, p. 237, doi. 10.1002/mgg3.279
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- Publication type:
- Article
Genetic Predisposition to Phaeochromocytoma: Analysis of Candidate Genes GDNF, RET and VHL.
- Published in:
- Human Molecular Genetics, 1997, v. 6, n. 7, p. 1051, doi. 10.1093/hmg/6.7.1051
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- Publication type:
- Article
From BRCA1 to Polygenic Risk Scores: Mutation-Associated Risks in Breast Cancer-Related Genes.
- Published in:
- Breast Care, 2021, v. 16, n. 3, p. 202, doi. 10.1159/000515319
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- Publication type:
- Article