PALB2: research reaching to clinical outcomes for women with breast cancer.

Melissa C Southey,Tú Nguyen-Dumont,Ingrid Winship

doi:10.1186/s13053-016-0049-2

Melissa C Southey, Tú Nguyen-Dumont + Show 1 more

Open Access

https://doi.org/10.1186/s13053-016-0049-2

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Abstract

PALB2 has taken its place with bona fide breast cancer susceptibility genes. It is now well established that women who carry loss-of-function mutations in the PALB2 gene are at similarly elevated breast cancer risks to those who carry mutations in BRCA2. Information about PALB2 is now being used in breast cancer clinical genetics practice and is routinely included in breast cancer predisposition gene panel tests. Tens of thousands of women worldwide have now had genetic tests for PALB2 mutations in the context of breast cancer susceptibility. However, prospective data related to the clinical outcomes of PALB2 mutation carriers is lacking and very little information (beyond mutation penetrance) is available to guide current clinical management for carriers (affected and unaffected by cancer). In addition, clinical classification of the vast array of non-loss-of-function genetic variants identified in PALB2 is in its infancy. These are key areas of current research efforts and are important foundations on which to move information about PALB2 into the precision public health arena.

Highlights

For the last two decades, women have been offered genetic testing of BRCA1 and BRCA2 in various clinical contexts
Prospective data related to the clinical outcomes of PALB2 mutation carriers is lacking and very little information is available to guide clinical management for carriers
Norquist et al have reported findings from a targeted capture and massively parallel sequencing assay that included the identification of 12 PALB2 mutation carriers in a group of 1,915 women with ovarian cancer unselected for family history (P =

Summary

Introduction

For the last two decades, women have been offered genetic testing of BRCA1 and BRCA2 in various clinical contexts. With some important caveats and considerations discussed in this review, current data suggests that gene panel testing offers breast cancer clinical genetics practice increased opportunity to identify “actionable” genetic variants in a greater proportion of women [2,3,4].

Results

Conclusion