ICARE Newsletter Winter 2020

New Study Based on ICARE Participants with ATM & CHEK2 Mutations

We are excited to tell you about our recently published results based solely on data from ICARE participants with ATM and CHEK2 mutations. Our findings suggest most female family members of ATM and CHEK2 mutation carriers do not qualify for breast MRI screening based on family cancer history alone. This emphasizes the need to share positive ATM and CHEK2 test results with family members so they can consider undergoing genetic testing themselves, which could impact their eligibility for breast MRI screening. Specifically, women with ATM and CHEK2 mutations have a lifetime breast cancer risk greater than 20%, which is the threshold at which screening through a breast MRI is recommended.  Results of our study showed:

  • Among 56 ATM carriers in ICARE, less than 25% of their close female relatives had a lifetime breast cancer risk >20% based on family cancer history alone.
  • Among 69 CHEK2 carriers in ICARE, less than 15% of their female relatives had a lifetime breast cancer risk >20% based on family history alone.

Consequently, testing in these female family members would identify those who were positive for the same ATM or CHEK2 mutation and therefore have a >20% risk for breast cancer, making them eligible for breast MRI screening.

1Weidner, et al. Cancer. 2020 Jan. PMID: 31967672.

 To help share test results with family members, check out our FREE online resource at: www.GeneSHARE.net

ICARE Newsletter Winter 2016

The Importance of Sharing Genetic Test Results with Family Members

Once an individual has had genetic testing for inherited cancer predisposition this information could help their close family members.  For example, when a BRCA mutation or a mutation in another inherited cancer gene is found, it is important for close family members (with or without a diagnosis of cancer) to know so they too can be proactive with cancer risk management and prevention options if they are identified to also have the familial mutation.  It is usually up to the first individual in the family identified with a mutation to share their positive genetic test result with their relatives.  Unfortunately, prior US-based studies suggest low rates of testing among at-risk family members1 the reasons for which are unclear, although higher rates of testing among family members were reported in a study conducted in Spain.2

It is also important for individuals who are the first person in their family to have genetic testing for inherited cancer and receive a negative result to share their results with family members. This may help to prevent unnecessary testing in the family and/or clarify the meaning of their negative result.

Tools exist to help facilitate sharing of positive test results among family members. These tools include creating a ‘family sharing letter’ to briefly describe the mutation that was found, what it means, and where relatives can access more information. 

1Barsevick AM et al. J Fam Psychol. 2008 Apr;22(2):303-12. PMID: 18410217.
2Sanz J et al. Fam Cancer. 2010 Sep;9(3):297-304. PMID: 20091130.