Assessing biases of information contained in pedigrees for the classification of BRCA-genetic variants: a study arising from the ENIGMA analytical working group

C. H. H. Kerkhofs; A. B. Spurdle; P. J. Lindsey; D. E. Goldgar; E. B. Gomez-Garcia

doi:10.1186/s13053-016-0050-9

Assessing biases of information contained in pedigrees for the classification of BRCA-genetic variants: a study arising from the ENIGMA analytical working group

C. H. H. Kerkhofs, A. B. Spurdle, P. J. Lindsey, D. E. Goldgar, E. B. Gomez-Garcia^*

^*Corresponding author for this work

Research output: Contribution to journal › Article › Academic › peer-review

Abstract

Purpose: One way of evaluating family history (FH)for classifying BRCA1/2 variants of uncertain clinical significance (VUS) is to assess the "BRCA-ness" of a pedigree by comparing it to reference populations. The aim of this study was to assess if prediction of BRCA pathogenic variant (mutation) status based on pedigree information differed due to changes in FH since intake, both in families with a pathogenic variant (BRCAm) and in families with wild-type (BRCAwt). Patients and methods: We compared the BRCA1/2 pathogenic variant detection probabilities between intake and most recent pedigree for BRCAm families (n = 64) and BRCAwt (n = 118) using the BRCAPRO software program. Results: Follow-up time between intake and most recent pedigree was significantly longer (p

Original language	English
Article number	10
Journal	Hereditary Cancer in Clinical Practice
Volume	14
DOIs	https://doi.org/10.1186/s13053-016-0050-9
Publication status	Published - 30 Apr 2016

Keywords

BRCA1/2
Variant classification models
Family history
Variants of uncertain clinical significance
Intake pedigrees

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10.1186/s13053-016-0050-9Licence: CC BY

Cite this

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title = "Assessing biases of information contained in pedigrees for the classification of BRCA-genetic variants: a study arising from the ENIGMA analytical working group",

abstract = "Purpose: One way of evaluating family history (FH)for classifying BRCA1/2 variants of uncertain clinical significance (VUS) is to assess the {"}BRCA-ness{"} of a pedigree by comparing it to reference populations. The aim of this study was to assess if prediction of BRCA pathogenic variant (mutation) status based on pedigree information differed due to changes in FH since intake, both in families with a pathogenic variant (BRCAm) and in families with wild-type (BRCAwt). Patients and methods: We compared the BRCA1/2 pathogenic variant detection probabilities between intake and most recent pedigree for BRCAm families (n = 64) and BRCAwt (n = 118) using the BRCAPRO software program. Results: Follow-up time between intake and most recent pedigree was significantly longer (p",

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doi = "10.1186/s13053-016-0050-9",

language = "English",

volume = "14",

journal = "Hereditary Cancer in Clinical Practice",

issn = "1731-2302",

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Assessing biases of information contained in pedigrees for the classification of BRCA-genetic variants: a study arising from the ENIGMA analytical working group. / Kerkhofs, C. H. H.; Spurdle, A. B.; Lindsey, P. J. et al.
In: Hereditary Cancer in Clinical Practice, Vol. 14, 10, 30.04.2016.

Research output: Contribution to journal › Article › Academic › peer-review

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T1 - Assessing biases of information contained in pedigrees for the classification of BRCA-genetic variants: a study arising from the ENIGMA analytical working group

AU - Kerkhofs, C. H. H.

AU - Spurdle, A. B.

AU - Lindsey, P. J.

AU - Goldgar, D. E.

AU - Gomez-Garcia, E. B.

PY - 2016/4/30

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AB - Purpose: One way of evaluating family history (FH)for classifying BRCA1/2 variants of uncertain clinical significance (VUS) is to assess the "BRCA-ness" of a pedigree by comparing it to reference populations. The aim of this study was to assess if prediction of BRCA pathogenic variant (mutation) status based on pedigree information differed due to changes in FH since intake, both in families with a pathogenic variant (BRCAm) and in families with wild-type (BRCAwt). Patients and methods: We compared the BRCA1/2 pathogenic variant detection probabilities between intake and most recent pedigree for BRCAm families (n = 64) and BRCAwt (n = 118) using the BRCAPRO software program. Results: Follow-up time between intake and most recent pedigree was significantly longer (p

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KW - Variant classification models

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