Very High Risk Breast Cancer Screening

Very High Risk Breast Cancer Screening - which breast screening service (BSO) should a woman be referred to?

Breast screening for women (or transgender/non-binary individuals with breasts) at very high risk of breast cancer is co-ordinated through the NHS Very High Risk (VHR) Breast Screening Programme. 

Such individuals include

  1. Individuals receiving radiotherapy to breast tissue (e.g. for Hodgkin/Non Hodgkin Lymphoma)
  2. Carriers of pathogenic/likely pathogenic variants in: 
  • BRCA1
  • BRCA2
  • PALB2
  • CDH1
  • STK11
  • PTEN
  • TP53
  • ATM (biallelic variants OR heterozygous carriers of c.7271T>G, p.(Val2424Gly))

The age at which screening starts depends on the underlying genotype and on the family history. Please note that modifications to the recommended screening may be made for variants associated with reduced penetrance (e.g. BRCA1 c.5096G>A, (p.Arg1699Gln), (R1699Q)).

Clinical genetics services do not have to wait until the age at which the individual’s screening protocol will start to make a referral for breast screening; the referral can be made straightaway and the breast screening service will send the invitation for screening at the appropriate age. 

Referrals for VHR screening should be directed to the relevant Breast Screening Office. 

Click on the link here below to download a useful workbook to guide referrals for VHR breast screening. The workbook contains 6 tabs:

  1. Overview with a summary flowchart of the referral process
  2. GP to Breast Screening Office (BSO) lookup
  3. Data - BSOs to GP Mapping = all GP practice codes mapped to BSO code
  4. Data - BSO Names = BSO codes and names
  5. Data GP Practices = GP practice codes, name and address
  6. BSO nhs.net email addresses

Please note the information about GP practices and breast screening service contacts is correct as at May 2021. This information is likely to change over time as GP practices reconfigure.

The patient must be registered with a GP in England to use the look up tool. 

Further information and  "Referral to the NHSBSP for very high risk screening" form are available at

https://www.gov.uk/government/publications/breast-screening-higher-risk-women-surveillance-protocols

Breast screening for women (or transgender/non-binary individuals with breasts) at very high risk of breast cancer is co-ordinated through the NHS Very High Risk (VHR) Breast Screening Programme. 

Such individuals include

  1. Individuals receiving radiotherapy to breast tissue (e.g. for Hodgkin/Non Hodgkin Lymphoma)
  2. Carriers of pathogenic/likely pathogenic variants in: 
  • BRCA1/BRCA2
  • PALB2
  • CDH1
  • STK11
  • PTEN
  • TP53
  • ATM (biallelic variants OR heterozygous carriers of c.7271T>G, p.(Val2424Gly))

The age at which screening starts depends on the underlying genotype and on the family history. Please note that modifications to the recommended screening may be made for variants associated with reduced penetrance (e.g. BRCA1 c.5096G>A, (p.Arg1699Gln), (R1699Q)).

Clinical genetics services do not have to wait until the age at which the individual’s screening protocol will start to make a referral for breast screening; the referral can be made straightaway and the breast screening service will send the invitation for screening at the appropriate age. 

Referrals for VHR screening should be directed to the relevant Breast Screening Office. 

Click on the link here below to download a useful workbook to guide referrals for VHR breast screening. The workbook contains 6 tabs:

  1. Overview with a summary flowchart of the referral process
  2. GP to Breast Screening Office (BSO) lookup
  3. Data - BSOs to GP Mapping = all GP practice codes mapped to BSO code
  4. Data - BSO Names = BSO codes and names
  5. Data GP Practices = GP practice codes, name and address
  6. BSO nhs.net email addresses

Please note the information about GP practices and breast screening service contacts is correct as at May 2021. This information is likely to change over time as GP practices reconfigure.

The patient must be registered with a GP in England to use the look up tool. 

Further information and  "Referral to the NHSBSP for very high risk screening" form are available at

https://www.gov.uk/government/publications/breast-screening-higher-risk-women-surveillance-protocols

Biallelic carriers of ATM variants can access testing via the NHS VHRBSP.

From now, heterozygous carriers of the ATM c.7271T>G, p.(Val2424Gly) variant can also be offered VHR breast surveillance, but only those with this specific ATM missense variant are eligible

To request screening for carriers of this variant, providers can use the standard from and document the variant in the “any other gene” section.

Please make it clear that this is the ATM c.7271T>G, p.(Val2424Gly) on the form so it is correctly entered by the breast units and we can audit it nationally in the future. 

Click button here below to access the workbook

VHR breast screening in carriers of ATM variants

Biallelic carriers of ATM variants can access testing via the NHS VHRBSP.

From now, heterozygous carriers of the ATM c.7271T>G, p.(Val2424Gly) variant can also be offered VHR breast surveillance, but only those with this specific ATM missense variant are eligible

To request screening for carriers of this variant, providers can use the standard from and document the variant in the “any other gene” section (see below).

Please make it clear that this is the ATM c.7271T>G, p.(Val2424Gly) on the form so it is correctly entered by the breast units and we can audit it nationally in the future. 

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