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Germline variants in oculocutaneous albinism genes and predisposition to familial cutaneous melanoma

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Harvard

Nathan, V, Johansson, PA, Palmer, JM, Howlie, M, Hamilton, HR, Wadt, K, Jönsson, G, Brooks, KM, Pritchard, AL & Hayward, NK 2019, 'Germline variants in oculocutaneous albinism genes and predisposition to familial cutaneous melanoma' Pigment Cell & Melanoma Research, bind 32, nr. 6, s. 854-863. https://doi.org/10.1111/pcmr.12804

APA

Nathan, V., Johansson, P. A., Palmer, J. M., Howlie, M., Hamilton, H. R., Wadt, K., ... Hayward, N. K. (2019). Germline variants in oculocutaneous albinism genes and predisposition to familial cutaneous melanoma. Pigment Cell & Melanoma Research, 32(6), 854-863. https://doi.org/10.1111/pcmr.12804

CBE

Nathan V, Johansson PA, Palmer JM, Howlie M, Hamilton HR, Wadt K, Jönsson G, Brooks KM, Pritchard AL, Hayward NK. 2019. Germline variants in oculocutaneous albinism genes and predisposition to familial cutaneous melanoma. Pigment Cell & Melanoma Research. 32(6):854-863. https://doi.org/10.1111/pcmr.12804

MLA

Vancouver

Author

Nathan, Vaishnavi ; Johansson, Peter A ; Palmer, Jane M ; Howlie, Madeleine ; Hamilton, Hayley R ; Wadt, Karin ; Jönsson, Göran ; Brooks, Kelly M ; Pritchard, Antonia L ; Hayward, Nicholas K. / Germline variants in oculocutaneous albinism genes and predisposition to familial cutaneous melanoma. I: Pigment Cell & Melanoma Research. 2019 ; Bind 32, Nr. 6. s. 854-863.

Bibtex

@article{95cce948d3c54103ab06afc0bae2dc4a,
title = "Germline variants in oculocutaneous albinism genes and predisposition to familial cutaneous melanoma",
abstract = "Approximately 1{\%}-2{\%} of cutaneous melanoma (CM) is classified as strongly familial. We sought to investigate unexplained CM predisposition in families negative for the known susceptibility genes using next-generation sequencing of affected individuals. Segregation of germline variants of interest within families was assessed by Sanger sequencing. Several heterozygous variants in oculocutaneous albinism (OCA) genes: TYR, OCA2, TYRP1 and SLC45A2, were present in our CM cohort. OCA is a group of autosomal recessive genetic disorders, resulting in pigmentation defects of the eyes, hair and skin. Missense variants classified as pathogenic for OCA were present in multiple families and some fully segregated with CM. The functionally compromised TYR p.T373K variant was present in three unrelated families. In OCA2, known pathogenic variants: p.V443I and p.N489D, were present in three families and one family, respectively. We identified a likely pathogenic SLC45A2 frameshift variant that fully segregated with CM in a family of four cases. Another four-case family harboured cosegregating variants (p.A24T and p.R153C) of uncertain functional significance in TYRP1. We conclude that rare, heterozygous variants in OCA genes confer moderate risk for CM.",
author = "Vaishnavi Nathan and Johansson, {Peter A} and Palmer, {Jane M} and Madeleine Howlie and Hamilton, {Hayley R} and Karin Wadt and G{\"o}ran J{\"o}nsson and Brooks, {Kelly M} and Pritchard, {Antonia L} and Hayward, {Nicholas K}",
note = "{\circledC} 2019 John Wiley & Sons A/S. Published by John Wiley & Sons Ltd.",
year = "2019",
month = "11",
doi = "10.1111/pcmr.12804",
language = "English",
volume = "32",
pages = "854--863",
journal = "Pigment Cell and Melanoma Research",
issn = "1755-1471",
publisher = "Wiley-Blackwell Munksgaard",
number = "6",

}

RIS

TY - JOUR

T1 - Germline variants in oculocutaneous albinism genes and predisposition to familial cutaneous melanoma

AU - Nathan, Vaishnavi

AU - Johansson, Peter A

AU - Palmer, Jane M

AU - Howlie, Madeleine

AU - Hamilton, Hayley R

AU - Wadt, Karin

AU - Jönsson, Göran

AU - Brooks, Kelly M

AU - Pritchard, Antonia L

AU - Hayward, Nicholas K

N1 - © 2019 John Wiley & Sons A/S. Published by John Wiley & Sons Ltd.

PY - 2019/11

Y1 - 2019/11

N2 - Approximately 1%-2% of cutaneous melanoma (CM) is classified as strongly familial. We sought to investigate unexplained CM predisposition in families negative for the known susceptibility genes using next-generation sequencing of affected individuals. Segregation of germline variants of interest within families was assessed by Sanger sequencing. Several heterozygous variants in oculocutaneous albinism (OCA) genes: TYR, OCA2, TYRP1 and SLC45A2, were present in our CM cohort. OCA is a group of autosomal recessive genetic disorders, resulting in pigmentation defects of the eyes, hair and skin. Missense variants classified as pathogenic for OCA were present in multiple families and some fully segregated with CM. The functionally compromised TYR p.T373K variant was present in three unrelated families. In OCA2, known pathogenic variants: p.V443I and p.N489D, were present in three families and one family, respectively. We identified a likely pathogenic SLC45A2 frameshift variant that fully segregated with CM in a family of four cases. Another four-case family harboured cosegregating variants (p.A24T and p.R153C) of uncertain functional significance in TYRP1. We conclude that rare, heterozygous variants in OCA genes confer moderate risk for CM.

AB - Approximately 1%-2% of cutaneous melanoma (CM) is classified as strongly familial. We sought to investigate unexplained CM predisposition in families negative for the known susceptibility genes using next-generation sequencing of affected individuals. Segregation of germline variants of interest within families was assessed by Sanger sequencing. Several heterozygous variants in oculocutaneous albinism (OCA) genes: TYR, OCA2, TYRP1 and SLC45A2, were present in our CM cohort. OCA is a group of autosomal recessive genetic disorders, resulting in pigmentation defects of the eyes, hair and skin. Missense variants classified as pathogenic for OCA were present in multiple families and some fully segregated with CM. The functionally compromised TYR p.T373K variant was present in three unrelated families. In OCA2, known pathogenic variants: p.V443I and p.N489D, were present in three families and one family, respectively. We identified a likely pathogenic SLC45A2 frameshift variant that fully segregated with CM in a family of four cases. Another four-case family harboured cosegregating variants (p.A24T and p.R153C) of uncertain functional significance in TYRP1. We conclude that rare, heterozygous variants in OCA genes confer moderate risk for CM.

U2 - 10.1111/pcmr.12804

DO - 10.1111/pcmr.12804

M3 - Journal article

VL - 32

SP - 854

EP - 863

JO - Pigment Cell and Melanoma Research

JF - Pigment Cell and Melanoma Research

SN - 1755-1471

IS - 6

ER -

ID: 59279913