Loss-of-function variants in POT1 predispose to uveal melanoma

Vaishnavi Nathan; Jane M Palmer; Peter A Johansson; Hayley R Hamilton; Sunil K Warrier; William Glasson; Lindsay A McGrath; Vivian F S Kahl; Raja S Vasireddy; Hilda A Pickett; Kelly M Brooks; Antonia L Pritchard; Nicholas K Hayward

doi:10.1136/jmedgenet-2020-107098

Loss-of-function variants in POT1 predispose to uveal melanoma

Vaishnavi Nathan, Jane M Palmer, Peter A Johansson, Hayley R Hamilton, Sunil K Warrier, William Glasson, Lindsay A McGrath, Vivian F S Kahl, Raja S Vasireddy, Hilda A Pickett, Kelly M Brooks, Antonia L Pritchard, Nicholas K Hayward

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Abstract

Pathogenic germline variants in protection of telomeres 1 (POT1) result in a tumour predisposition syndrome (POT1-TPDS), which includes cutaneous melanoma (CM), glioma, chronic lymphocytic leukaemia (CLL), colorectal cancer, thyroid cancer and sarcoma. Through whole-genome sequencing (WGS) of 20 Australian individuals affected with both CM and uveal melanoma (UM), our study identified two truncating variants in POT1. Functional analyses assessing telomere length indicated longer telomeres in variant carriers, compared with healthy age-matched controls, similar to observations in CM patients with loss-of-function POT1 variants.

Original language	English
Journal	Journal of Medical Genetics
Early online date	9 Sept 2020
DOIs	https://doi.org/10.1136/jmedgenet-2020-107098
Publication status	Published - 9 Sept 2020

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POT1_frameshift_variants_VNathan_200715_AAM
© Author(s) (or their employer(s)) 2020. No commercial re-use. See rights and permissions. Published by BMJ.
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title = "Loss-of-function variants in POT1 predispose to uveal melanoma",

abstract = "Pathogenic germline variants in protection of telomeres 1 (POT1) result in a tumour predisposition syndrome (POT1-TPDS), which includes cutaneous melanoma (CM), glioma, chronic lymphocytic leukaemia (CLL), colorectal cancer, thyroid cancer and sarcoma. Through whole-genome sequencing (WGS) of 20 Australian individuals affected with both CM and uveal melanoma (UM), our study identified two truncating variants in POT1. Functional analyses assessing telomere length indicated longer telomeres in variant carriers, compared with healthy age-matched controls, similar to observations in CM patients with loss-of-function POT1 variants.",

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note = "{\textcopyright} Author(s) (or their employer(s)) 2020. No commercial re-use. See rights and permissions. Published by BMJ.",

year = "2020",

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doi = "10.1136/jmedgenet-2020-107098",

language = "English",

journal = "Journal of Medical Genetics",

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T1 - Loss-of-function variants in POT1 predispose to uveal melanoma

AU - Nathan, Vaishnavi

AU - Palmer, Jane M

AU - Johansson, Peter A

AU - Hamilton, Hayley R

AU - Warrier, Sunil K

AU - Glasson, William

AU - McGrath, Lindsay A

AU - Kahl, Vivian F S

AU - Vasireddy, Raja S

AU - Pickett, Hilda A

AU - Brooks, Kelly M

AU - Pritchard, Antonia L

AU - Hayward, Nicholas K

PY - 2020/9/9

Y1 - 2020/9/9

N2 - Pathogenic germline variants in protection of telomeres 1 (POT1) result in a tumour predisposition syndrome (POT1-TPDS), which includes cutaneous melanoma (CM), glioma, chronic lymphocytic leukaemia (CLL), colorectal cancer, thyroid cancer and sarcoma. Through whole-genome sequencing (WGS) of 20 Australian individuals affected with both CM and uveal melanoma (UM), our study identified two truncating variants in POT1. Functional analyses assessing telomere length indicated longer telomeres in variant carriers, compared with healthy age-matched controls, similar to observations in CM patients with loss-of-function POT1 variants.

AB - Pathogenic germline variants in protection of telomeres 1 (POT1) result in a tumour predisposition syndrome (POT1-TPDS), which includes cutaneous melanoma (CM), glioma, chronic lymphocytic leukaemia (CLL), colorectal cancer, thyroid cancer and sarcoma. Through whole-genome sequencing (WGS) of 20 Australian individuals affected with both CM and uveal melanoma (UM), our study identified two truncating variants in POT1. Functional analyses assessing telomere length indicated longer telomeres in variant carriers, compared with healthy age-matched controls, similar to observations in CM patients with loss-of-function POT1 variants.

U2 - 10.1136/jmedgenet-2020-107098

DO - 10.1136/jmedgenet-2020-107098

M3 - Article

C2 - 32907878

SN - 0022-2593

JO - Journal of Medical Genetics

JF - Journal of Medical Genetics

ER -

Loss-of-function variants in POT1 predispose to uveal melanoma

Abstract

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