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Risks of breast or ovarian cancer in BRCA1 or BRCA2 predictive test negatives: findings from the EMBRACE study

Risks of breast or ovarian cancer in BRCA1 or BRCA2 predictive test negatives: findings from the EMBRACE study
Risks of breast or ovarian cancer in BRCA1 or BRCA2 predictive test negatives: findings from the EMBRACE study
Purpose

BRCA1/BRCA2 predictive test negatives are proven non-carriers of a BRCA1/BRCA2 mutation that is carried by their relatives. The risk of developing breast cancer (BC) or epithelial ovarian cancer (EOC) in these women is uncertain. The study aimed to estimate risks of invasive BC and EOC in a large cohort of BRCA1/BRCA2 predictive test negatives.

Methods

We used cohort analysis to estimate incidences, cumulative risks and standardised incidence ratios (SIR).

Results

A total of 1895 unaffected women were eligible for inclusion in the BC risk analysis and 1736 in the EOC risk analysis. There were 23 incident invasive BCs and 2 EOCs. The cumulative risk of invasive BC was 9.4% (95% CI 5.9%-15%) by age 85 years and the corresponding risk of EOC was 0.6% (95% CI 0.2%-2.6%). The SIR for invasive BC was 0.93 (95% CI 0.62-1.40) in the overall cohort, 0.85 (95% CI 0.48-1.50) in non-carriers from BRCA1 families and 1.03 (95% CI 0.57-1.87) in non-carriers from BRCA2 families. The SIR for EOC was 0.79 (95% CI 0.20-3.17) in the overall cohort.

Conclusions

Our results did not provide evidence for elevated risks of invasive BC or EOC in BRCA1/BRCA2 predictive test negatives.
1098-3600
Girardi, Fabio
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Barnes, Daniel
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Barrowdale, Daniel
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Frost, Debra
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Brady, Angela
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Miller, Claire
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Donaldson, Alan
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Murray, Alex
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Brewer, Carole
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Pottinger, Caroline
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Evans, Gareth
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Eccles, Diana
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Lalloo, Fiona
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Gregory, Helen
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Cook, Jackie
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Eason, Jacqueline
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Adlard, Julian
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Barwell, Julian
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Ong, Kai-Ren
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Walker, Lisa
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Izatt, Louise
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Side, Lucy E.
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Kennedy, M. John
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Tischkowitz, Marc
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Rogers, Mark T.
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Tischkowitz, Marc
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Rogers, Mark T.
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Porteous, Mary E.
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Morrison, Patrick J.
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Eeles, Ros
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Davidson, Rosemarie
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Snape, Katie
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Easton, Douglas F.
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Antoniou, Antonis C.
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EMBRACE
Girardi, Fabio
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Barnes, Daniel
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Barrowdale, Daniel
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Frost, Debra
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Brady, Angela
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Miller, Claire
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Donaldson, Alan
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Murray, Alex
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Brewer, Carole
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Pottinger, Caroline
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Evans, Gareth
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Eccles, Diana
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Lalloo, Fiona
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Gregory, Helen
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Cook, Jackie
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Eason, Jacqueline
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Adlard, Julian
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Barwell, Julian
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Ong, Kai-Ren
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Walker, Lisa
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Izatt, Louise
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Side, Lucy E.
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Kennedy, M. John
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Tischkowitz, Marc
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Rogers, Mark T.
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Tischkowitz, Marc
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Rogers, Mark T.
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Porteous, Mary E.
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Morrison, Patrick J.
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Eeles, Ros
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Davidson, Rosemarie
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Snape, Katie
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Easton, Douglas F.
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Antoniou, Antonis C.
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Girardi, Fabio, Barnes, Daniel, Barrowdale, Daniel, Frost, Debra, Brady, Angela, Miller, Claire, Donaldson, Alan, Murray, Alex, Brewer, Carole, Pottinger, Caroline, Evans, Gareth, Eccles, Diana, Lalloo, Fiona, Gregory, Helen, Cook, Jackie, Eason, Jacqueline, Adlard, Julian, Barwell, Julian, Ong, Kai-Ren, Walker, Lisa, Izatt, Louise, Side, Lucy E., Kennedy, M. John, Tischkowitz, Marc, Rogers, Mark T., Tischkowitz, Marc, Rogers, Mark T., Porteous, Mary E., Morrison, Patrick J., Eeles, Ros, Davidson, Rosemarie, Snape, Katie, Easton, Douglas F. and Antoniou, Antonis C. , EMBRACE (2018) Risks of breast or ovarian cancer in BRCA1 or BRCA2 predictive test negatives: findings from the EMBRACE study. Genetics in Medicine. (doi:10.1038/gim.2018.44).

Record type: Article

Abstract

Purpose

BRCA1/BRCA2 predictive test negatives are proven non-carriers of a BRCA1/BRCA2 mutation that is carried by their relatives. The risk of developing breast cancer (BC) or epithelial ovarian cancer (EOC) in these women is uncertain. The study aimed to estimate risks of invasive BC and EOC in a large cohort of BRCA1/BRCA2 predictive test negatives.

Methods

We used cohort analysis to estimate incidences, cumulative risks and standardised incidence ratios (SIR).

Results

A total of 1895 unaffected women were eligible for inclusion in the BC risk analysis and 1736 in the EOC risk analysis. There were 23 incident invasive BCs and 2 EOCs. The cumulative risk of invasive BC was 9.4% (95% CI 5.9%-15%) by age 85 years and the corresponding risk of EOC was 0.6% (95% CI 0.2%-2.6%). The SIR for invasive BC was 0.93 (95% CI 0.62-1.40) in the overall cohort, 0.85 (95% CI 0.48-1.50) in non-carriers from BRCA1 families and 1.03 (95% CI 0.57-1.87) in non-carriers from BRCA2 families. The SIR for EOC was 0.79 (95% CI 0.20-3.17) in the overall cohort.

Conclusions

Our results did not provide evidence for elevated risks of invasive BC or EOC in BRCA1/BRCA2 predictive test negatives.

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More information

Accepted/In Press date: 12 January 2018
e-pub ahead of print date: 22 March 2018

Identifiers

Local EPrints ID: 419270
URI: https://eprints.soton.ac.uk/id/eprint/419270
ISSN: 1098-3600
PURE UUID: 8658843a-db28-4eec-b06f-f0db1183799c

Catalogue record

Date deposited: 09 Apr 2018 16:30
Last modified: 14 Mar 2019 05:17

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Contributors

Author: Fabio Girardi
Author: Daniel Barnes
Author: Daniel Barrowdale
Author: Debra Frost
Author: Angela Brady
Author: Claire Miller
Author: Alan Donaldson
Author: Alex Murray
Author: Carole Brewer
Author: Caroline Pottinger
Author: Gareth Evans
Author: Diana Eccles
Author: Fiona Lalloo
Author: Helen Gregory
Author: Jackie Cook
Author: Jacqueline Eason
Author: Julian Adlard
Author: Julian Barwell
Author: Kai-Ren Ong
Author: Lisa Walker
Author: Louise Izatt
Author: Lucy E. Side
Author: M. John Kennedy
Author: Marc Tischkowitz
Author: Mark T. Rogers
Author: Marc Tischkowitz
Author: Mark T. Rogers
Author: Mary E. Porteous
Author: Patrick J. Morrison
Author: Ros Eeles
Author: Rosemarie Davidson
Author: Katie Snape
Author: Douglas F. Easton
Author: Antonis C. Antoniou

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