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@article{Rust:2018:10.1111/1471-0528.15171,
author = {Rust, K and Spiliopoulou, P and Tang, CY and Bell, C and Stirling, D and Phang, THF and Davidson, R and Mackean, M and Nussey, F and Glasspool, R and Reed, N and Sadozye, A and Porteous, M and McGoldrick, T and Ferguson, M and Miedzybrodzka, Z and McNeish, IA and Gourley, C},
doi = {10.1111/1471-0528.15171},
journal = {BJOG: An International Journal of Obstetrics and Gynaecology},
pages = {1451--1548},
title = {Routine germline BRCA1 and BRCA2 testing in ovarian carcinoma patients: analysis of the Scottish real life experience},
url = {http://dx.doi.org/10.1111/1471-0528.15171},
volume = {125},
year = {2018}
}

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TY  - JOUR
AB  - Objective:To determine the rate of germline BRCA1 and BRCA2 mutations in Scottish ovarian cancer patients before and after a change in testing policy.Design:Retrospective cohort study.Setting:Four cancer/genetics centres in Scotland.Population:Ovarian cancer patients undergoing germline BRCA1 and BRCA2 (gBRCA1/2) gene sequencing before 2013 (‘old criteria’; selection based solely on family history), after 2013 (‘new criteria’; sequencing offered to newly presenting non-mucinous ovarian cancer patients) and the ‘prevalent population’ (who presented before 2013, were not eligible for sequencing under the old criteria but were sequenced under the new criteria).Methods:Clinicopathological and sequence data were collected before and for 18 months after this change in selection criteria.Main Outcome Measures:Frequency of germline BRCA1, BRCA2, RAD51C and RAD51D mutations.Results:Of 599 patients sequenced, 205, 236 and 158 were in the ‘old criteria’, ‘new criteria’ and ‘prevalent’ populations respectively. The frequency of gBRCA1/2 mutations was 30.7%, 13.1% and 12.7% respectively. The annual rate of gBRCA1/2 mutation detection was 4.2 before and 20.7 after the policy change. 48% (15/31) ‘new criteria’ patients with gBRCA1/2 mutations had a Manchester score <15 and would not have been offered sequencing based on family history criteria. In addition, 20 gBRCA1/2 patients were identified in the prevalent population. The prevalence of gBRCA1/2 mutations in patients >70 years was 8.2%.Conclusions:Sequencing all non-mucinous ovarian cancer patients produces much higher annual gBRCA1/2 mutation detection with the frequency of positive tests still exceeding the 10% threshold upon which many family history based models operate.
AU  - Rust,K
AU  - Spiliopoulou,P
AU  - Tang,CY
AU  - Bell,C
AU  - Stirling,D
AU  - Phang,THF
AU  - Davidson,R
AU  - Mackean,M
AU  - Nussey,F
AU  - Glasspool,R
AU  - Reed,N
AU  - Sadozye,A
AU  - Porteous,M
AU  - McGoldrick,T
AU  - Ferguson,M
AU  - Miedzybrodzka,Z
AU  - McNeish,IA
AU  - Gourley,C
DO  - 10.1111/1471-0528.15171
EP  - 1548
PY  - 2018///
SN  - 1470-0328
SP  - 1451
TI  - Routine germline BRCA1 and BRCA2 testing in ovarian carcinoma patients: analysis of the Scottish real life experience
T2  - BJOG: An International Journal of Obstetrics and Gynaecology
UR  - http://dx.doi.org/10.1111/1471-0528.15171
UR  - https://www.ncbi.nlm.nih.gov/pubmed/29460478
UR  - http://hdl.handle.net/10044/1/57306
VL  - 125
ER  -

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