PALB2 Genetic Variants: Can Functional Assays Assist Translation?

Melissa C. Southey; Amanda Rewse; Tu Nguyen-Dumont

doi:10.1016/j.trecan.2020.01.017

PALB2 Genetic Variants: Can Functional Assays Assist Translation?

Melissa C. Southey, Amanda Rewse, Tu Nguyen-Dumont

Medicine Monash Health

Research output: Contribution to journal › Short Survey › Other › peer-review

3 Citations (Scopus)

Abstract

PALB2 loss-of-function variants are associated with increased risk of breast and other cancers, but the clinical relevance of missense variants (MVs) remains uncertain. Recent findings reported by Wiltshire et al., Rodrigue et al., and Boonen et al. demonstrate that some MVs disrupt PALB2 function. This new information will support the clinical management of families who carry these MVs and inform their treatment.

Original language	English
Pages (from-to)	263-265
Number of pages	3
Journal	Trends In Cancer
Volume	6
Issue number	4
DOIs	https://doi.org/10.1016/j.trecan.2020.01.017
Publication status	Published - 1 Apr 2020

Keywords

cancer risk
functional assays
genetic testing
missense variants
PALB2

UN SDGs

This output contributes to the following UN Sustainable Development Goals (SDGs)

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10.1016/j.trecan.2020.01.017

Cite this

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title = "PALB2 Genetic Variants: Can Functional Assays Assist Translation?",

abstract = "PALB2 loss-of-function variants are associated with increased risk of breast and other cancers, but the clinical relevance of missense variants (MVs) remains uncertain. Recent findings reported by Wiltshire et al., Rodrigue et al., and Boonen et al. demonstrate that some MVs disrupt PALB2 function. This new information will support the clinical management of families who carry these MVs and inform their treatment.",

keywords = "cancer risk, functional assays, genetic testing, missense variants, PALB2",

author = "Southey, {Melissa C.} and Amanda Rewse and Tu Nguyen-Dumont",

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pages = "263--265",

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T1 - PALB2 Genetic Variants

T2 - Can Functional Assays Assist Translation?

AU - Southey, Melissa C.

AU - Rewse, Amanda

AU - Nguyen-Dumont, Tu

PY - 2020/4/1

Y1 - 2020/4/1

N2 - PALB2 loss-of-function variants are associated with increased risk of breast and other cancers, but the clinical relevance of missense variants (MVs) remains uncertain. Recent findings reported by Wiltshire et al., Rodrigue et al., and Boonen et al. demonstrate that some MVs disrupt PALB2 function. This new information will support the clinical management of families who carry these MVs and inform their treatment.

AB - PALB2 loss-of-function variants are associated with increased risk of breast and other cancers, but the clinical relevance of missense variants (MVs) remains uncertain. Recent findings reported by Wiltshire et al., Rodrigue et al., and Boonen et al. demonstrate that some MVs disrupt PALB2 function. This new information will support the clinical management of families who carry these MVs and inform their treatment.

KW - cancer risk

KW - functional assays

KW - genetic testing

KW - missense variants

KW - PALB2

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U2 - 10.1016/j.trecan.2020.01.017

DO - 10.1016/j.trecan.2020.01.017

M3 - Short Survey

AN - SCOPUS:85079399290

SN - 2405-8033

VL - 6

SP - 263

EP - 265

JO - Trends In Cancer

JF - Trends In Cancer

IS - 4

ER -

PALB2 Genetic Variants: Can Functional Assays Assist Translation?

Abstract

Keywords

UN SDGs

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