Clear cell renal cell carcinoma ontogeny and mechanisms of lethality

E Jonasch, CL Walker, WK Rathmell - Nature Reviews Nephrology, 2021 - nature.com
The molecular features that define clear cell renal cell carcinoma (ccRCC) initiation and
progression are being increasingly defined. The TRACERx Renal studies and others that …

Biological Mechanisms and Clinical Significance of BAP1 Mutations in Human Cancer

M Carbone, JW Harbour, J Brugarolas, A Bononi… - Cancer discovery, 2020 - AACR
Among more than 200 BAP1-mutant families affected by the “BAP1 cancer syndrome,”
nearly all individuals inheriting a BAP1 mutant allele developed one or more malignancies …

BAP1 regulates IP3R3-mediated Ca2+ flux to mitochondria suppressing cell transformation

A Bononi, C Giorgi, S Patergnani, D Larson… - Nature, 2017 - nature.com
Abstract BRCA1-associated protein 1 (BAP1) is a potent tumour suppressor gene that
modulates environmental carcinogenesis,,. All carriers of inherited heterozygous germline …

Comprehensive Study of the Clinical Phenotype of Germline BAP1 Variant-Carrying Families Worldwide

S Walpole, AL Pritchard, CM Cebulla… - JNCI: Journal of the …, 2018 - academic.oup.com
Background The BRCA1-associated protein-1 (BAP1) tumor predisposition syndrome (BAP1-
TPDS) is a hereditary tumor syndrome caused by germline pathogenic variants in BAP1 …

Roles and mechanisms of BAP1 deubiquitinase in tumor suppression

L Masclef, O Ahmed, B Estavoyer, B Larrivée… - Cell Death & …, 2021 - nature.com
The BAP1 gene has emerged as a major tumor suppressor mutated with various
frequencies in numerous human malignancies, including uveal melanoma, malignant …

Epidemiology and prevention of renal cell carcinoma

T Makino, S Kadomoto, K Izumi, A Mizokami - Cancers, 2022 - mdpi.com
Simple Summary The incidence of renal cell carcinoma (RCC) rises globally with the highest
rates in developed countries. This indicates not only the impact of advanced imaging, but …

Spectrum of diverse genomic alterations define non–clear cell renal carcinoma subtypes

S Durinck, EW Stawiski, A Pavía-Jiménez… - Nature …, 2015 - nature.com
To further understand the molecular distinctions between kidney cancer subtypes, we
analyzed exome, transcriptome and copy number alteration data from 167 primary human …

[HTML][HTML] Update in genetic susceptibility in melanoma

M Potrony, C Badenas, P Aguilera… - Annals of …, 2015 - ncbi.nlm.nih.gov
Melanoma is the most deadly of the common skin cancers and its incidence is rapidly
increasing. Approximately 10% of cases occur in a familial context. To date, cyclin …

Melanoma genetics

J Read, KAW Wadt, NK Hayward - Journal of medical genetics, 2016 - jmg.bmj.com
Approximately 10% of melanoma cases report a relative affected with melanoma, and a
positive family history is associated with an increased risk of developing melanoma …

Molecular genetics of clear-cell renal cell carcinoma

J Brugarolas - Journal of clinical oncology, 2014 - ascopubs.org
Renal cell carcinoma of clear-cell type (ccRCC) is an enigmatic tumor type, characterized by
frequent inactivation of the VHL gene (infrequently mutated in other tumor types) …