Information of participants in the Leeds University study of melanoma in families

MREC 99/3/45 – Studies of Familial Melanoma

In the years between 1989 and 2018, many individuals who have had melanoma or who have had melanoma in their families, took part in research led by Professor Julia Newton-Bishop. Research nurses Liz Pinney, Linda Whitaker and Susan Haynes worked with Julia for many years to collect information about family histories, to count moles on the skin and to take blood samples.

If you think you or a member of your family took part in this research we have some important information below, which we would like you to consider. But first however, a brief overview of the findings of this study.

In all, 2397 people took part in the study from all over England and Wales. The information provided has led to increased knowledge about many aspects of melanoma occurring in families. We have summarised many of the published academic papers and these lay summaries which can be accessed here.

The research showed:

  • That in many families with melanoma, family members have large numbers of moles (melanocytic naevi), but not all such families.
  • That even within “moley” families, melanoma can occur in family members with normal moles so that having larger numbers of moles than is usual is a poor guide to risk.
  • That the commonest inherited gene which increases melanoma risk is called CDKN2Aand the protein the gene produces is called p16. This gene is damaged (mutated) in the majority of families in England and Wales with 4 or more family members who have been affected with melanoma, but not all.
  • Families with mutations in the CDKN2Agene in the UK seem to be mainly at increased risk of melanoma of the skin. A few may also be at increased risk of pancreatic cancer or other cancers associated with smoking. For families with melanoma it is therefore important never to smoke, and to avoid sunburn as this is known to increase melanoma risk.
  • Rarer mutations in other genes have been found in recent years. These have been harder to find as they occur in only around 1%: 1 in 100 families. They occur in genes called POT1, TERT or BAP1. In these families, there is an increased risk of melanoma of the skin but some additional cancer types which differ according to the gene that is mutated.
  • For a few families with particular inherited mutations in the CDKN2A gene, and for families with newly identified melanoma susceptibility genes such as POT1 and TERT, the real risk of different cancers has not yet been established. These studies take many years to produce reliable estimates of risk and indeed if the mutations are very rare, then it might be difficult to estimate risk accurately. This is a problem as if we don’t yet know the risks of different cancer types it is very difficult to establish proper screening programmes. We will continue to try to further this research.
  • Clinical geneticists are trained to look at family history and to estimate risk and gene tests are improving all the time. If your family has a strong history of cancers (whether of melanoma or melanoma and other cancers) then you should consider asking for a referral to clinical genetics services to discuss risk and screening. Gene testing is an important part of what clinical geneticists do but is not an essential part of the consultation if patients decide against it.

Important information about the data we collected as part of this study

In order to carry out this research we collected data from families on family history which we have safe-guarded most carefully but which we now feel that we should make anonymous. We want to continue to work on the information but we feel that we should destroy the link between the information and family members’ details.  We want to do this to ensure that participants’ personal details remain safe in the long term, but it means that we would not be able to help if family members telephone us or e-mail to seek advice specifically about their families.

 

This information is provided here and will be left on the web site for 3 months before we destroy the link. If you have participated in the research and feel that there is a reason NOT to destroy the links for your family then please let us know by either of the e-mail addresses listed below or by these telephone numbers.

 

Date May 18th2018

We will continue to add new information to the web site in the future as new discoveries which may be of interest to families with melanoma.

 

Prof. Julia Newton-Bishop

j.a.newton-bishop@leeds.ac.uk

Professor of Dermatology and lead research investigator.

Tel: +44 (0) 113 2064573

 

Mr Christy Walker

C.L.R.Walker@leeds.ac.uk

Section Research Nurse

Tel: +44 (0) 113 2064575