[HTML][HTML] POLE and POLD1 mutations in 529 kindred with familial colorectal cancer and/or polyposis: review of reported cases and recommendations for genetic testing …

F Bellido, M Pineda, G Aiza, R Valdés-Mas… - Genetics in …, 2016 - nature.com
Purpose: Germ-line mutations in the exonuclease domains of POLE and POLD1 have been
recently associated with polyposis and colorectal cancer (CRC) predisposition. Here, we …

Network modeling links breast cancer susceptibility and centrosome dysfunction

MA Pujana, JDJ Han, LM Starita, KN Stevens… - Nature …, 2007 - nature.com
Many cancer-associated genes remain to be identified to clarify the underlying molecular
mechanisms of cancer susceptibility and progression. Better understanding is also required …

Association between BRCA1 and BRCA2 mutations and survival in women with invasive epithelial ovarian cancer

KL Bolton, G Chenevix-Trench, C Goh, S Sadetzki… - Jama, 2012 - jamanetwork.com
Context Approximately 10% of women with invasive epithelial ovarian cancer (EOC) carry
deleterious germline mutations in BRCA1 or BRCA2. A recent article suggested that BRCA2 …

Deletion of the late cornified envelope LCE3B and LCE3C genes as a susceptibility factor for psoriasis

R De Cid, E Riveira-Munoz, PLJM Zeeuwen… - Nature …, 2009 - nature.com
Psoriasis is a common inflammatory skin disease with a prevalence of 2–3% in individuals
of European ancestry. In a genome-wide search for copy number variants (CNV) using a …

Mutations affecting mRNA splicing are the most common molecular defects in patients with neurofibromatosis type 1

E Ars, E Serra, J García, H Kruyer… - Human molecular …, 2000 - academic.oup.com
Abstract Neurofibromatosis type 1 (NF1) is one of the most common inherited disorders in
humans and is caused by mutations in the NF1 gene. To date, the majority of the reported …

Schwann cells harbor the somatic NF1 mutation in neurofibromas: evidence of two different Schwann cell subpopulations

E Serra, T Rosenbaum, U Winner… - Human molecular …, 2000 - academic.oup.com
Neurofibromas are one of the most characteristic features of neurofibromatosis type 1 (NF1),
an inherited autosomal-dominant neurogenetic disorder affecting 1 in 3500 individuals …

Mutational spectrum in a worldwide study of 29,700 families with BRCA1 or BRCA2 mutations

TR Rebbeck, TM Friebel, E Friedman… - Human …, 2018 - Wiley Online Library
The prevalence and spectrum of germline mutations in BRCA1 and BRCA2 have been
reported in single populations, with the majority of reports focused on White in Europe and …

[PDF][PDF] Confirmation of a double-hit model for the NF1Gene in benign neurofibromas

E Serra, S Puig, D Otero, A Gaona, H Kruyer… - The American Journal of …, 1997 - cell.com
Neurofibroma is a benign tumor that arises from small or large nerves. This neoplastic lesion
is a common feature of neurofibromatosis type 1 (NF1), one of the most common autosomal …

[HTML][HTML] Updated diagnostic criteria and nomenclature for neurofibromatosis type 2 and schwannomatosis: An international consensus recommendation

SR Plotkin, L Messiaen, E Legius, P Pancza… - Genetics in …, 2022 - Elsevier
Abstract Purpose Neurofibromatosis type 2 (NF2) and schwannomatosis (SWN) are
genetically distinct tumor predisposition syndromes with overlapping phenotypes. We …

[HTML][HTML] Role of POLE and POLD1 in familial cancer

P Mur, S García-Mulero, J Del Valle… - Genetics in …, 2020 - Elsevier
Purpose Germline pathogenic variants in the exonuclease domain (ED) of polymerases
POLE and POLD1 predispose to adenomatous polyps, colorectal cancer (CRC) …