Hereditary cancer predisposition syndromes

JE Garber, K Offit - Journal of clinical oncology, 2005 - ascopubs.org
Cancer genetics is increasingly becoming integrated into the practice of modern medical
oncology. The ability to distinguish a growing proportion of the 5% to 10% of all cancers that …

The Hedgehog's tale: develo** strategies for targeting cancer

JMY Ng, T Curran - Nature Reviews Cancer, 2011 - nature.com
Research into basic developmental biology has frequently yielded insights into cancer
biology. This is particularly true for the Hedgehog (HH) pathway. Activating mutations in the …

Birth incidence and prevalence of tumor‐prone syndromes: estimates from a UK family genetic register service

DG Evans, E Howard, C Giblin, T Clancy… - American journal of …, 2010 - Wiley Online Library
Dominantly inherited tumor-prone syndromes are a significant health burden, but disease-
related morbidity can be reduced and life expectancy increased by a GR type approach …

Activating Smoothened mutations in sporadic basal-cell carcinoma

J **e, M Murone, SM Luoh, A Ryan, Q Gu, C Zhang… - Nature, 1998 - nature.com
Basal-cell carcinomas (BCCs) are the commonest human cancer. Insight into their genesis
came from identification of mutations in the PATCHED gene (PTCH) in patients with the …

Germline Mutations in SUFU Cause Gorlin Syndrome–Associated Childhood Medulloblastoma and Redefine the Risk Associated With PTCH1 Mutations

MJ Smith, C Beetz, SG Williams, SS Bhaskar… - Journal of Clinical …, 2014 - ascopubs.org
Purpose Heterozygous germline PTCH1 mutations are causative of Gorlin syndrome
(naevoid basal cell carcinoma), but detection rates> 70% have rarely been reported. We …

Mutations in SUFU predispose to medulloblastoma

MD Taylor, L Liu, C Raffel, C Hui, TG Mainprize… - Nature …, 2002 - nature.com
The sonic hedgehog (SHH) signaling pathway directs the embryonic development of diverse
organisms and is disrupted in a variety of malignancies. Pathway activation is triggered by …

Patched acts catalytically to suppress the activity of Smoothened

J Taipale, MK Cooper, T Maiti, PA Beachy - Nature, 2002 - nature.com
Mutations affecting the transmembrane proteins Patched (Ptc) or Smoothened (Smo) that
trigger ligand-independent activity of the Hedgehog (Hh) signalling pathway are associated …

Nevoid basal cell carcinoma (Gorlin) syndrome

RJ Gorlin - Genetics in Medicine, 2004 - nature.com
As I recall, Columbia Presbyterian Medical Center was not a hot bed of liberalism during the
1940s. Helen Ollendorf Curth was a famous and highly qualified dermatologist. She had …

The hedgehog signaling network

MM Cohen Jr - American journal of medical genetics Part A, 2003 - Wiley Online Library
In the hedgehog signaling network, mutations result in various phenotypes, including,
among others, holoprosencephaly, nevoid basal cell carcinoma syndrome, Pallister‐Hall …

[HTML][HTML] Identification of mutations in the human PATCHED gene in sporadic basal cell carcinomas and in patients with the basal cell nevus syndrome

M Aszterbaum, A Rothman, M Fisher, J **e… - Journal of investigative …, 1998 - Elsevier
Mutations in PATCHED (PTC), the human homolog of the Drosophila patched gene, have
been identified in most exons of the gene in patients with the basal cell nevus syndrome and …