||Target population and investigations which should be considered before germline testing updated as per consensus of reference committee.
||Combined Manchester Score changed from 15 to 16 as per reference committee feedback.
Reviewed at RC meeting - Target population updated. Circumstances in which testing is not indicated amended to include considering testing outside these guidelines on an individual basis and where the most appropriate person in the family has been tested and no mutation found, further testing is not required.
Ages in target population changed to less than or equal to to align with the references.
Discussed at national reference committee meeting October 2011 and following changes made under:
Target Population "high grade serous or endometroid ovarian" changed to "high grade invasive non-mucinous ovarian"
Added "where a known pathogenic mutation has been identified in a relative"
Factors which influence the pre-test probability of a germline mutation
Tumour features may be included in decision to test:
- young (< 41 yrs) triple negative breast cancer (+/- basal markers)
- invasive ovarian < 60 yrs
Tumour features can inform the decison to test:
- young (< 41 yrs) triple negative breast cancer (+/- basal markers) without family history
- invasive ovarian cancer <60 yrs (all subtypes)
Minor additions to clarify Diagnostic and Predictive testing sections
Reference list updated
Berry D.A. et al 2002 and Risch, H.A. et al 2006 moved to history tab
James, P.A. et al 2006 and Zhang, S. et al 2011 added to reference list
Discussed at national reference committee meeting March 2013 and the following changes made:
All protocol headings updated according to new template.
Target Population - reformatted and updated
- with high grade invasive non-mucinous ovarian, fallopian tube or primary peritoneal cancer < age 60 yrs changed to
- with an isolated high grade (Grades 2 & 3) invasive non-mucinous ovarian, fallopian tube or primary peritoneal cancer < age 70 yrs.
- with invasive non-mucinous ovarian, fallopian tube or primary peritoneal cancer at any age and a family history* of breast or ovarian cancer - added
Investigations which should be considered before germline genetic testing - updated.
Factors which influence the pre-test probablity of a heritable mutation - updated.
Diagnostic testing - table updated.
Interpretation of mutation testing results - table updated.
Website resources - updated.
Reference list - updated
Zhang, S., R. Royer, S. Li, et al. 2011 and Evans, D. G., A. Howell, D. Ward, et al. 2011 moved to history tab.
Alsop, K et al 2012 and Hartman, A.R. et al 2012 added to reference list.
Following discussion at March 5 2014 reference committee meeting the following change has been made:
- Diagnostic testing - Link to Human Genetics Society of Australasia removed.
Following discussion of the NICE clinical guideline 164 - Familial breast cancer in relation to eviQ protocols at the October 30 2013 & 5 March 2014 reference committee meetings and further email discussion, the following recommendation has been added to the Target population:
Recommendation and protocol to be reviewed in 12 months
||Sentence added to Genetic Testing protocol template: if a decision is made to test this gene(s) as part of a cancer gene panel, care should be taken to select a panel where the individual genes tested have both clinical validity and clinical utility.
Reviewed at May 2015 reference committee meeting and discussions continued via email. The following changes made:
- target population - updated, including addition of 'limited family structure' and age for individuals with triple negative breast cancer changed from <40 years to <50 years
- diagnostic testing - updated according to new template
- for yearly review.
Based on changes to MBS criteria for BRCA1/2 testing (and it now having an MBS item number), protocol amended to reflect change:
- target population - 'based on ovarian cancer characteristics' updated
Protocol to undergo full review in May 2017 as planned.
||Transferred to new eviQ website. Version number changed to V.5.
||Removed four links to the Clinical molecular genetics society best practice guidelines (CMGS) in Result Interpretation section, as webpage no longer available.
Protocol reviewed and presented at the November 2017 eviQ reference committee meeting. Discussion continued over email and document approved for publication with the following changes:
- Target population:
- 2. a. i – ‘breast or ovarian’ changed to ‘breast and/or ovarian'
- 2. a. iii - 'where local resources allow, and' removed from beginning of sentence.
- 2. c. ii – ‘relapsed’ added after ‘invasive’
- 2. c. iii - (i.e. relapsed ovarian cancer) added to end of bullet point.
- 3. 'limited family structure' changed to 'limited family structure or no knowledge of the family cancer history'
- Added '3. c. triple negative breast cancer under the age of 60'
- Testing methods:
- Gene Tests link renamed as GeneReviews
- Website resources:
- Further references section removed - references listed in History tab moved to front of protocol in the Bibliography section.
- Reference list updated to include Bibliography.
||Protocol title changed from 'Genetic testing for heritable mutations in the BRCA1 and BRCA2 genes' to 'BRCA1 and BRCA2 genetic testing' in accordance with Cancer Genetics Reference Committees' consensus. Version number increased to V.7.