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Ovarian cancer – referring to genetics

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Referral to a clinical genetics service or familial cancer centre for assessment should be considered for all people meeting the categories below:

Pathogenic variant identified in the family
UNTESTED adult blood relative of a person with an identified pathogenic variant in an ovarian cancer predisposition gene (e.g. BRCA1, BRCA2,  MLH1, MSH2, MSH6, PMS2, STK11, RAD51C, RAD51D, BRIP1, PALB2, DICER1, SMARCA4)
Blood relative of a person with a clinical diagnosis of a familial cancer syndrome that predisposes to ovarian cancer (e.g. Lynch syndrome, Peutz-Jeghers syndrome, DICER1 syndrome)
Tumour pathology
Characteristics that warrant referral irrespective of other factors
High grade (grades 2 & 3) non-mucinous epithelial ovarian, fallopian tube or primary peritoneal cancer
Ovarian cancer that is MMR-deficient

Certain rare ovarian tumours: 

  • Serous tubal intraepithelial carcinoma (STIC)
  • Ovarian sex cord tumour with annular tubules (SCTAT)
  • Sertoli-Leydig cell tumour (SLCT)
  • Small cell carcinoma of the ovary, hypercalcaemic type (SSCOHT)
  • Ovarian fibroma
  • Ovarian leiomyoma
For those with a personal history of ovarian cancer
Individual characteristics that warrant referral irrespective of other factors
Invasive non-mucinous epithelial ovarian, fallopian tube or primary peritoneal cancer (regardless of age and grade) AND a close relative* with breast, ovarian  or pancreatic cancer, or high grade prostate cancer diagnosed under age 60 years

Invasive epithelial ovarian cancer (regardless of age, grade and subtype) including mucinous AND one of the following:

  • a personal history of a second Lynch syndrome-associated cancer#
  • a close relative* with colorectal or endometrial cancer diagnosed under age 50 years
  • two or more close relatives* with a Lynch syndrome-associated cancer#
An individual with ovarian cancer in whom tumour testing has identified a somatic BRCA1 or BRCA2 pathogenic variant
For those with a family history of cancer
Characteristics sufficient to warrant referral irrespective of other factors

Close relative* with invasive epithelial ovarian, fallopian tube or primary peritoneal cancer AND an additional close relative* with one of the following:

  • epithelial ovarian, fallopian tube or primary peritoneal cancer
  • breast cancer
  • colorectal cancer diagnosed under age 50 years
  • endometrial cancer diagnosed under age 50 years
Close relative* with two or more Lynch syndrome-associated cancers#, one of which is an invasive epithelial ovarian, fallopian tube or primary peritoneal cancer
Three or more close relatives* with a Lynch syndrome­-associated cancer#, regardless of the age the cancers were diagnosed

* Close relative = 1st or 2nd degree
# Lynch syndrome-­associated cancer includes adenocarcinoma of the colorectum, endometrium, small intestine, stomach, ovary, or pancreas, urothelial carcinoma of the ureter or renal pelvis, cholangiocarcinoma, brain tumour, sebaceous gland tumour

Version 6

Date Summary of changes
23/01/2023

First sentence updated to align with the new eviQ cancer genetics referral guidelines template:

  • Changed from "All of the people who fall into the categories below warrant a referral to a clinical genetics service or familial cancer centre for assessment." to "Referral to a clinical genetics service or familial cancer centre for assessment should be considered for all people meeting the categories below".

Version number increased to V.6.

Version 5

Date Summary of changes
23/12/2021

Document reviewed out of session by the cancer genetics reference committee. Approved for publication with the following changes made: 

  • Pathogenic variant identified in the family:
    • Row 1: 'PALB2, DICER1, SMARCA4' added
    • Row 2: added to table
  • For those with a personal history of ovarian cancer: 
    • Row 2: '...with breast or ovarian cancer' changed to '...with breast, ovarian or pancreatic cancer, or high grade prostate cancer diagnosed under age 60 years'
  • For those with a family history of cancer:
    • Row 3: added to table
    • Row 4: 'regardless of the age the cancers were diagnosed' added
  • Other minor wording changes made throughout document

Version number increased to V.5. Review in 2 years. Approved on 23/12/2021, published on 10/01/2022.

Version 4

Date Summary of changes
17/11/2020

Document updated with the following changes made in accordance with cancer genetics reference committee chairs consensus:

  • Document title changed from "Referral guidelines for ovarian cancer risk assessment and consideration of genetic testing" to "Ovarian cancer – referring to genetics"
  • First table heading changed to "Pathogenic variant identified in the family" 

Version number increased to V.4.
03/03/2021

Document updated with the following changes made:

  • Introductory sentence:
    • "All of the people who fall into the categories below warrant a referral to a clinical genetics service or familial cancer centre." changed to "All of the people who fall into the categories below may be appropriate for testing through their medical specialist or at a clinical genetics service or familial cancer centre." 
    • Link to "Guide for health professionals ordering genetic testing" added.

Version 3

Date Summary of changes
10/09/2019

Referral guidelines reviewed at May 2019 reference committee meeting. Approved for publication with the following changes made: 

  • Ovarian cancer predisposition genes - RAD51C, RAD51D and BRIP1 added
  • Tumour pathology 
    • Ovarian cancer that is MMR-deficient added
    • Certain rare ovarian tumours - Serous tubal intraepithelial carcinoma (STIC) added
  • For those with a personal history of ovarian cancer - referral criteria reviewed and updated
  • For those with a family history of cancer - referral criteria reviewed and updated
  • "Mutation" changed to "pathogenic variant" throughout document for consistency among eviQ cancer genetics protocols per agreement among the cancer genetics reference committees' chairs. Definition of "pathogenic variant" added as a pop-up. 

Protocol version number increased to V.3. To be reviewed in 2 years.

Version 2

Date Summary of changes
28/07/2016 Referral guidelines template updated and protocol approved via email.  Previously this protocol (ID 1905) was part of ID 1134 Ovarian and endometrial cancer referral guidelines.
24/08/2016 'Endometrium' added to Lynch sydrome associated cancers list.  
31/05/2017 Transferred to new eviQ website. Version number changed to V.2.

The information contained in this document is based on the highest level of available evidence and consensus of the eviQ reference committee regarding their views of currently accepted approaches to care or treatment. Any clinician seeking to apply or consult this document is expected to use independent clinical judgement in the context of individual clinical circumstances to determine any patient's care or treatment. While eviQ endeavours to link to reliable sources that provide accurate information, eviQ and the Cancer Institute NSW do not endorse or accept responsibility for the accuracy, currency, reliability or correctness of the content of linked external information sources. Use is subject to eviQ’s disclaimer available at www.eviQ.org.au

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The currency of this information is guaranteed only up until the date of printing, for any updates please check:

https://www.eviq.org.au/p/1905

13 Oct 2024