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