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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摘要

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.

源语言	English
期刊	Journal of Medical Genetics
早期在线日期	9 9月 2020
DOI	https://doi.org/10.1136/jmedgenet-2020-107098
出版状态	Published - 9 9月 2020

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10.1136/jmedgenet-2020-107098许可: CC BY-NC

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.",

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

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

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

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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

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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

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