Germline TERT promoter mutations are rare in familial melanoma

Publikation: Bidrag til tidsskrift › Tidsskriftartikel › Forskning › fagfællebedømt

Standard

Germline TERT promoter mutations are rare in familial melanoma. / Harland, Mark; Petljak, Mia; Robles-Espinoza, Carla Daniela; Ding, Zhihao; Gruis, Nelleke A; van Doorn, Remco; Pooley, Karen A; Dunning, Alison M; Aoude, Lauren G; Wadt, Karin Anna Wallentin; Gerdes, Anne-Marie; Brown, Kevin M; Hayward, Nicholas K; Newton-Bishop, Julia A; Adams, David J; Bishop, D Timothy.

I: Familial Cancer, Bind 15, Nr. 1, 01.2016, s. 139-44.

Publikation: Bidrag til tidsskrift › Tidsskriftartikel › Forskning › fagfællebedømt

Harvard

Harland, M, Petljak, M, Robles-Espinoza, CD, Ding, Z, Gruis, NA, van Doorn, R, Pooley, KA, Dunning, AM, Aoude, LG, Wadt, KAW, Gerdes, A-M, Brown, KM, Hayward, NK, Newton-Bishop, JA, Adams, DJ & Bishop, DT 2016, 'Germline TERT promoter mutations are rare in familial melanoma', Familial Cancer, bind 15, nr. 1, s. 139-44. https://doi.org/10.1007/s10689-015-9841-9

APA

Harland, M., Petljak, M., Robles-Espinoza, C. D., Ding, Z., Gruis, N. A., van Doorn, R., Pooley, K. A., Dunning, A. M., Aoude, L. G., Wadt, K. A. W., Gerdes, A-M., Brown, K. M., Hayward, N. K., Newton-Bishop, J. A., Adams, D. J., & Bishop, D. T. (2016). Germline TERT promoter mutations are rare in familial melanoma. Familial Cancer, 15(1), 139-44. https://doi.org/10.1007/s10689-015-9841-9

Vancouver

Harland M, Petljak M, Robles-Espinoza CD, Ding Z, Gruis NA, van Doorn R o.a. Germline TERT promoter mutations are rare in familial melanoma. Familial Cancer. 2016 jan.;15(1):139-44. https://doi.org/10.1007/s10689-015-9841-9

Author

Harland, Mark ; Petljak, Mia ; Robles-Espinoza, Carla Daniela ; Ding, Zhihao ; Gruis, Nelleke A ; van Doorn, Remco ; Pooley, Karen A ; Dunning, Alison M ; Aoude, Lauren G ; Wadt, Karin Anna Wallentin ; Gerdes, Anne-Marie ; Brown, Kevin M ; Hayward, Nicholas K ; Newton-Bishop, Julia A ; Adams, David J ; Bishop, D Timothy. / Germline TERT promoter mutations are rare in familial melanoma. I: Familial Cancer. 2016 ; Bind 15, Nr. 1. s. 139-44.

Bibtex

@article{60967588b03c4db6b1bc41cb0fd81ae4,
title = "Germline TERT promoter mutations are rare in familial melanoma",
abstract = "Germline CDKN2A mutations occur in 40 % of 3-or-more case melanoma families while mutations of CDK4, BAP1, and genes involved in telomere function (ACD, TERF2IP, POT1), have also been implicated in melanomagenesis. Mutation of the promoter of the telomerase reverse transcriptase (TERT) gene (c.-57 T>G variant) has been reported in one family. We tested for the TERT promoter variant in 675 multicase families wild-type for the known high penetrance familial melanoma genes, 1863 UK population-based melanoma cases and 529 controls. Germline lymphocyte telomere length was estimated in carriers. The c.-57 T>G TERT promoter variant was identified in one 7-case family with multiple primaries and early age of onset (earliest, 15 years) but not among population cases or controls. One family member had multiple primary melanomas, basal cell carcinomas and a bladder tumour. The blood leukocyte telomere length of a carrier was similar to wild-type cases. We provide evidence confirming that a rare promoter variant of TERT (c.-57 T>G) is associated with high penetrance, early onset melanoma and potentially other cancers, and explains <1 % of UK melanoma multicase families. The identification of POT1 and TERT germline mutations highlights the importance of telomere integrity in melanoma biology.",
author = "Mark Harland and Mia Petljak and Robles-Espinoza, {Carla Daniela} and Zhihao Ding and Gruis, {Nelleke A} and {van Doorn}, Remco and Pooley, {Karen A} and Dunning, {Alison M} and Aoude, {Lauren G} and Wadt, {Karin Anna Wallentin} and Anne-Marie Gerdes and Brown, {Kevin M} and Hayward, {Nicholas K} and Newton-Bishop, {Julia A} and Adams, {David J} and Bishop, {D Timothy}",
year = "2016",
month = jan,
doi = "10.1007/s10689-015-9841-9",
language = "English",
volume = "15",
pages = "139--44",
journal = "Familial Cancer",
issn = "1389-9600",
publisher = "Springer",
number = "1",

}

RIS

TY - JOUR

T1 - Germline TERT promoter mutations are rare in familial melanoma

AU - Harland, Mark

AU - Petljak, Mia

AU - Robles-Espinoza, Carla Daniela

AU - Ding, Zhihao

AU - Gruis, Nelleke A

AU - van Doorn, Remco

AU - Pooley, Karen A

AU - Dunning, Alison M

AU - Aoude, Lauren G

AU - Wadt, Karin Anna Wallentin

AU - Gerdes, Anne-Marie

AU - Brown, Kevin M

AU - Hayward, Nicholas K

AU - Newton-Bishop, Julia A

AU - Adams, David J

AU - Bishop, D Timothy

PY - 2016/1

Y1 - 2016/1

N2 - Germline CDKN2A mutations occur in 40 % of 3-or-more case melanoma families while mutations of CDK4, BAP1, and genes involved in telomere function (ACD, TERF2IP, POT1), have also been implicated in melanomagenesis. Mutation of the promoter of the telomerase reverse transcriptase (TERT) gene (c.-57 T>G variant) has been reported in one family. We tested for the TERT promoter variant in 675 multicase families wild-type for the known high penetrance familial melanoma genes, 1863 UK population-based melanoma cases and 529 controls. Germline lymphocyte telomere length was estimated in carriers. The c.-57 T>G TERT promoter variant was identified in one 7-case family with multiple primaries and early age of onset (earliest, 15 years) but not among population cases or controls. One family member had multiple primary melanomas, basal cell carcinomas and a bladder tumour. The blood leukocyte telomere length of a carrier was similar to wild-type cases. We provide evidence confirming that a rare promoter variant of TERT (c.-57 T>G) is associated with high penetrance, early onset melanoma and potentially other cancers, and explains <1 % of UK melanoma multicase families. The identification of POT1 and TERT germline mutations highlights the importance of telomere integrity in melanoma biology.

AB - Germline CDKN2A mutations occur in 40 % of 3-or-more case melanoma families while mutations of CDK4, BAP1, and genes involved in telomere function (ACD, TERF2IP, POT1), have also been implicated in melanomagenesis. Mutation of the promoter of the telomerase reverse transcriptase (TERT) gene (c.-57 T>G variant) has been reported in one family. We tested for the TERT promoter variant in 675 multicase families wild-type for the known high penetrance familial melanoma genes, 1863 UK population-based melanoma cases and 529 controls. Germline lymphocyte telomere length was estimated in carriers. The c.-57 T>G TERT promoter variant was identified in one 7-case family with multiple primaries and early age of onset (earliest, 15 years) but not among population cases or controls. One family member had multiple primary melanomas, basal cell carcinomas and a bladder tumour. The blood leukocyte telomere length of a carrier was similar to wild-type cases. We provide evidence confirming that a rare promoter variant of TERT (c.-57 T>G) is associated with high penetrance, early onset melanoma and potentially other cancers, and explains <1 % of UK melanoma multicase families. The identification of POT1 and TERT germline mutations highlights the importance of telomere integrity in melanoma biology.

U2 - 10.1007/s10689-015-9841-9

DO - 10.1007/s10689-015-9841-9

M3 - Journal article

C2 - 26433962

VL - 15

SP - 139

EP - 144

JO - Familial Cancer

JF - Familial Cancer

SN - 1389-9600

IS - 1

ER -

ID: 161691242