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Breast cancer – referring to genetics

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All of the people who fall into the categories below warrant a referral to a clinical genetics service or familial cancer centre for assessment.

Pathogenic variant identified in the family
UNTESTED adult blood relative of a person with an identified pathogenic variant in a breast and/or ovarian cancer predisposition gene (e.g. BRCA1 or BRCA2, TP53, PTEN, STK11, PALB2, CDH1)
Tumour pathology
Characteristics that warrant referral irrespective of other factors
Triple negative breast cancer (TNBC) diagnosed <50 years (TNBC: oestrogen, progesterone and HER2 receptor negative)
For those with a personal history of cancer
Individual characteristics that warrant referral irrespective of other factors
Male breast cancer at any age
Breast cancer and Jewish ancestry
Two primary breast cancers in the same person, where the first occurred under age 60 years 
Two or more different but associated cancers in the same person at any age (e.g. breast and ovarian cancer)
Breast cancer <40 years
Lobular breast cancer AND a family history of lobular breast or diffuse-type gastric cancer
Breast cancer <50 years with limited family structure or knowledge (e.g. adopted)

Breast cancer and a personal or family history suggestive of:

  • Peutz-Jegher syndrome (oral pigmentation and/or gastrointestinal polyposis)
  • PTEN hamartoma syndrome (macrocephaly, specific mucocutaneous lesions, endometrial or thyroid cancer)
  • Li Fraumeni syndrome (breast cancer <50 years, adrenocorticocarcinoma, sarcoma, brain tumours).
For those with a family history of cancer 
Characteristics sufficient to warrant referral irrespective of other factors

Two 1st or 2nd degree relatives diagnosed with breast or ovarian cancer plus one or more of the following on the same side of the family:*

  • additional relative(s) with breast or ovarian cancer
  • breast cancer diagnosed <50 years
  • more than one primary breast cancer in the same woman
  • breast and ovarian cancer in the same woman
  • Jewish ancestry
  • breast cancer in a male
  • pancreatic cancer
  • high grade (>/= Gleason 7) prostate cancer.

Note: If the type of ovarian cancer is not known consider referral. The family cancer clinic will attempt to verify the histological type of ovarian cancer and determine whether testing is appropriate.

*When possible, genetic testing should be performed first on the affected family member. 

Version 5

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 breast cancer risk assessment and consideration of genetic testing" to "Breast cancer – referring to genetics" 
  • First table heading changed to "Pathogenic variant identified in the family" 

Version number increased to V.5.

Version 4

Date Summary of changes
13/11/2019

"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.

Version number increased to V.4.

Version 3

Date Summary of changes
07/10/2015

Referral guidelines approved and published, following discussions at March and October 2014 RCM, and being finalised over email.
31/05/2017 Transferred to new eviQ website. Version number changed to V.2.
01/02/2019

Presented at Nov 2018 RCM and discussion continued over email. Approved for publication with the following changes:

  • Breast cancer: Genes and PALB2 and CDH1 added.
  • Tumour pathology: 'High grade, non-mucinous epithelial ovarian*, fallopian tube or primary peritoneal adenocarcinoma' removed. 'Lobular breast cancer AND a family history of lobular breast or diffuse-type gastric cancer' moved down into following section
  • For those with a personal history of cancer: 
    • 'Breast cancer and Jewish ancestry' added.
    • Age for two primary breast cancers changed from 50 to 60 years.
    • 'Two or more different primary tumours...' changed to 'Two or more different but associated cancers in the same person at any age (e.g. breast and ovarian cancer).'
    • 'High grade, non-mucinous epithelial ovarian*, fallopian tube or primary peritoneal adenocarcinoma' removed.
    • 'Breast cancer <50 years with limited family structure or knowledge (e.g. adopted)' added.
  • For those with a family history of cancer:
    • ​'pancreatic cancer' and 'high grade (>/= Gleason 7) prostate cancer' added.
    • '*When possible, genetic testing should be performed first on the affected family member' added.
  • Version number changed to V3.

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. 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/1620

01 Dec 2020