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The cystic fibrosis ΔF508 gene mutation and cancer
Author(s) -
Padua Rose Ann,
Warren Neil,
Grimshaw David,
Smith Melissa,
Lewis Christopher,
Whittaker Jack,
Laidler Peter,
Wright Patricia,
DouglasJones Anthony,
Fenaux Pierre,
Sharma Anup,
Horgan Kieran,
West Robert
Publication year - 1997
Publication title -
human mutation
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.981
H-Index - 162
eISSN - 1098-1004
pISSN - 1059-7794
DOI - 10.1002/(sici)1098-1004(1997)10:1<45::aid-humu6>3.0.co;2-l
Subject(s) - biology , cystic fibrosis , population , melanoma , δf508 , mutation , lymphoma , cancer , colorectal cancer , medicine , breast cancer , oncology , cancer research , gastroenterology , genetics , immunology , gene , cystic fibrosis transmembrane conductance regulator , environmental health
Following the observation that relatives of cystic fibrosis (CF) patients have an increased mortality due to leukaemia, a study was initiated to determine whether leukaemia patients had an increased prevalence of the ΔF508 CF mutation. No increase in carriers were found among leukaemias; however the carrier frequency of the ΔF508 mutation appeared to be reduced in patients with malignant melanoma analysed as a control group compared to the normal population. This paper extends our previous study and investigates several other common human tumours, including those of the colon, breast, and lymphoma tissue. Fewer than expected carriers remained among the melanoma group from South Wales. There were fewer than expected carriers among patients with colon cancer compared to the normal population. The prevalence of the ΔF508 mutation was normal in lymphomas and leukaemias. Hum Mutat 10:45–48, 1997. © 1997 Wiley‐Liss, Inc.