Sentences with phrase «penetrance melanoma»

Project Title: Using functional studies to explore potential high penetrance melanoma susceptibility genes identified using whole exome and genome sequencing.

The first paper was published in 2009, and a series of more recent papers have shown increased numbers of these low penetrance melanoma susceptibility genes.

In any country, people who inherit more of these low penetrance melanoma genes are more likely to get melanoma if they sun bathe.

In the majority of families with high penetrance melanoma susceptibility genes however the family history will reveal melanoma predominantly.

The most frequent high penetrance melanoma gene found to be mutated in melanoma families is CDKN2A and the protein produced by the gene is called p16.

Not exact matches

Genotype / phenotype and penetrance studies in melanoma families with germline CDKN2A mutations.

Geographical variation in the penetrance of CDKN2A mutations for melanoma.

It is possible that the co-inheritance of more than one such low penetrance gene may result in more marked clustering of melanoma in some families.

For melanoma it is easiest to group susceptibility genes into rare high penetrance genes and more common lower penetrance genes but the truth is that this distinction is not absolute.

The hypothesis then, is that inheritance of these putative low penetrance genes predisposes white skinned peoples to melanoma but that as this predisposition is weak, there may be only one or occasionally two cases in the family.

It is also possible that families carrying these low penetrance genes may have more cases of melanoma if they live in areas of the world where the environmental exposures are more extreme such as Queensland: that is, as a result of gene / environment interaction.

There are other possible low penetrance genes promoting susceptibility to melanoma which Melanoma Genetics Consortium and others are exmelanoma which Melanoma Genetics Consortium and others are exMelanoma Genetics Consortium and others are exploring.

To find low penetrance genes which increase the risk of melanoma.