PMID- 10505029
OWN - NLM
STAT- MEDLINE
DCOM- 19991007
LR  - 20201113
IS  - 0959-8049 (Print)
IS  - 0959-8049 (Linking)
VI  - 35
IP  - 5
DP  - 1999 May
TI  - The patched/hedgehog/smoothened signalling pathway in human breast cancer: no 
      evidence for H133Y SHH, PTCH and SMO mutations.
PG  - 711-3
AB  - The patched/hedgehog/smoothened signalling pathway has been implicated in the 
      development of sporadic tumours associated with the naevoid basal cell carcinoma 
      (Gorlin) syndrome (NBCCS). Mutations in sporadic basal cell carcinomas (BCCs) of 
      the skin and medulloblastomas have been found in genes encoding all three 
      proteins of the pathway. A substantial proportion of breast carcinomas has 
      recently been suggested to contain missense mutations in the human patched (PTCH) 
      and sonic hedgehog (SHH) homologues. However, an independent study showed that 
      the implicated mutation in SHH (H133Y) was absent in a large number of BCCs, 
      medulloblastomas, breast, ovary and colorectal tumours. We searched for the H133Y 
      SHH mutation in 84 primary breast carcinomas, but did not detect this change in 
      any sample. In addition, a subset of 45 primary breast tumours was analysed for 
      mutations in the PTCH coding region and 48 samples in previously implicated exons 
      of human smoothened, but no mutations were found. Although our results do not 
      exclude the presence of clonal alterations of these genes in a small proportion 
      of breast carcinomas, these data do not support the existence of frequent 
      mutations in genes encoding major protein partners of this signalling pathway. 
      The absence of nucleotide changes in PTCH may point to another linked gene in the 
      chromosome region 9q22-q23, previously suggested to contain a breast cancer 
      susceptibility gene.
FAU - Vorechovsky, I
AU  - Vorechovsky I
AD  - Karolinska Institute, Department of Biosciences at Novum, Huddinge, Sweden. 
      lgor.vorechovsky@cbt.ki.se
FAU - Benediktsson, K P
AU  - Benediktsson KP
FAU - Toftgard, R
AU  - Toftgard R
LA  - eng
PT  - Journal Article
PT  - Research Support, Non-U.S. Gov't
PL  - England
TA  - Eur J Cancer
JT  - European journal of cancer (Oxford, England : 1990)
JID - 9005373
RN  - 0 (DNA, Neoplasm)
RN  - 0 (Hedgehog Proteins)
RN  - 0 (Membrane Proteins)
RN  - 0 (PTCH1 protein, human)
RN  - 0 (Patched Receptors)
RN  - 0 (Patched-1 Receptor)
RN  - 0 (Proteins)
RN  - 0 (Receptors, Cell Surface)
RN  - 0 (SHH protein, human)
RN  - 0 (Trans-Activators)
SB  - IM
MH  - Basal Cell Nevus Syndrome/*genetics
MH  - Breast Neoplasms/*genetics
MH  - Cell Communication
MH  - Chromosomes, Human, Pair 9/genetics
MH  - DNA, Neoplasm/genetics
MH  - Female
MH  - Hedgehog Proteins
MH  - Humans
MH  - Membrane Proteins/genetics
MH  - Mutation/*genetics
MH  - Patched Receptors
MH  - Patched-1 Receptor
MH  - Proteins/*genetics
MH  - Receptors, Cell Surface
MH  - Signal Transduction/genetics
MH  - *Trans-Activators
EDAT- 1999/10/03 00:00
MHDA- 1999/10/03 00:01
CRDT- 1999/10/03 00:00
PHST- 1999/10/03 00:00 [pubmed]
PHST- 1999/10/03 00:01 [medline]
PHST- 1999/10/03 00:00 [entrez]
AID - S0959804999000179 [pii]
AID - 10.1016/s0959-8049(99)00017-9 [doi]
PST - ppublish
SO  - Eur J Cancer. 1999 May;35(5):711-3. doi: 10.1016/s0959-8049(99)00017-9.