PMID- 32240795
OWN - NLM
STAT- MEDLINE
DCOM- 20210106
LR  - 20240210
IS  - 1569-8041 (Electronic)
IS  - 0923-7534 (Print)
IS  - 0923-7534 (Linking)
VI  - 31
IP  - 7
DP  - 2020 Jul
TI  - Germline and sporadic cancers driven by the RAS pathway: parallels and contrasts.
PG  - 873-883
LID - S0923-7534(20)36378-X [pii]
LID - 10.1016/j.annonc.2020.03.291 [doi]
AB  - Somatic mutations in RAS and related pathway genes such as NF1 have been strongly 
      implicated in the development of cancer while also being implicated in a diverse 
      group of developmental disorders named the 'RASopathies', including 
      neurofibromatosis type 1 (NF1), Noonan syndrome (NS), Noonan syndrome with 
      multiple lentigines (NSML), Costello syndrome (CS), cardiofaciocutaneous syndrome 
      (CFC), and capillary malformation-arteriovenous syndrome (CM-AVM). It remains 
      unclear why (i) there is little overlap in mutational subtype between Ras-driven 
      malignancies associated with sporadic disease and those associated with the 
      RASopathy syndromes, and (ii) RASopathy-associated cancers are usually of 
      different histological origin to those seen with sporadic mutations of the same 
      genes. For instance, germline variants in KRAS and NRAS are rarely found at 
      codons 12, 13 or 61, the most common sites for somatic mutations in sporadic 
      cancers. An exception is CS, where germline variants in codons 12 and 13 of HRAS 
      occur relatively frequently. Given recent renewed drug interest following early 
      clinical success of RAS G12C and farnesyl transferase inhibitors, an improved 
      understanding of this relationship could help guide targeted therapies for both 
      sporadic and germline cancers associated with the Ras pathway.
CI  - Copyright (c) 2020 The Authors. Published by Elsevier Ltd.. All rights reserved.
FAU - Dunnett-Kane, V
AU  - Dunnett-Kane V
AD  - Manchester University NHS Foundation Trust, Manchester, UK.
FAU - Burkitt-Wright, E
AU  - Burkitt-Wright E
AD  - Manchester Centre for Genomic Medicine, Manchester University NHS Foundation 
      Trust, Manchester, UK.
FAU - Blackhall, F H
AU  - Blackhall FH
AD  - Department of Medical Oncology, the Christie NHS Foundation Trust, Manchester, 
      UK; Cancer Research UK Lung Cancer Centre of Excellence, London and Manchester, 
      UK; Division of Molecular and Clinical Cancer Sciences, University of Manchester, 
      Manchester, UK.
FAU - Malliri, A
AU  - Malliri A
AD  - Cancer Research UK Manchester Institute, University of Manchester, Manchester, 
      UK.
FAU - Evans, D G
AU  - Evans DG
AD  - Manchester Centre for Genomic Medicine, Manchester University NHS Foundation 
      Trust, Manchester, UK; Division of Evolution and Genomic Medicine, Faculty of 
      Biology and Health, University of Manchester, Manchester, UK.
FAU - Lindsay, C R
AU  - Lindsay CR
AD  - Department of Medical Oncology, the Christie NHS Foundation Trust, Manchester, 
      UK; Cancer Research UK Lung Cancer Centre of Excellence, London and Manchester, 
      UK; Division of Molecular and Clinical Cancer Sciences, University of Manchester, 
      Manchester, UK. Electronic address: colin.lindsay@manchester.ac.uk.
LA  - eng
GR  - 20410/CRUK_/Cancer Research UK/United Kingdom
PT  - Journal Article
PT  - Research Support, Non-U.S. Gov't
PT  - Review
DEP - 20200330
PL  - England
TA  - Ann Oncol
JT  - Annals of oncology : official journal of the European Society for Medical 
      Oncology
JID - 9007735
RN  - EC 3.6.5.2 (ras Proteins)
SB  - IM
MH  - *Costello Syndrome
MH  - Germ Cells/metabolism
MH  - Humans
MH  - Mutation
MH  - *Neoplasms/genetics
MH  - *Noonan Syndrome
MH  - ras Proteins/genetics
PMC - PMC7322396
OTO - NOTNLM
OT  - Costello syndrome
OT  - Noonan syndrome
OT  - RAS
OT  - RASopathy
OT  - neurofibromatosis type 1
COIS- Disclosure GE: Consulting: AZ. FHB: Institutional funding as a PI: Amgen, 
      Novartis, Pfizer; Clinical trials: AbbVie, Amgen, Ariad, AZ, BI, BMS, Celgene, 
      Genentech, MSD, Novartis, Pfizer, Regeneron, Roche, Takeda; Consulting/advisory: 
      AbbVie, Celgene, Cell Medica, Ipsen, Medivation, Regeneron, Takeda, Amgen, AZ. 
      CRL: Institutional funding as a CI/PI: Roche, Amgen and BI; Consulting: 
      CBPartners, Amgen. All remaining authors have declared no conflict of interest.
EDAT- 2020/04/03 06:00
MHDA- 2021/01/07 06:00
PMCR- 2020/07/01
CRDT- 2020/04/03 06:00
PHST- 2019/11/20 00:00 [received]
PHST- 2020/03/11 00:00 [revised]
PHST- 2020/03/12 00:00 [accepted]
PHST- 2020/04/03 06:00 [pubmed]
PHST- 2021/01/07 06:00 [medline]
PHST- 2020/04/03 06:00 [entrez]
PHST- 2020/07/01 00:00 [pmc-release]
AID - S0923-7534(20)36378-X [pii]
AID - 10.1016/j.annonc.2020.03.291 [doi]
PST - ppublish
SO  - Ann Oncol. 2020 Jul;31(7):873-883. doi: 10.1016/j.annonc.2020.03.291. Epub 2020 
      Mar 30.