NF1 Patients Receiving Breast Cancer Screening: Insights from The Ontario High Risk Breast Screening Program

Nika Maani; Shelley Westergard; Joanna Yang; Anabel M Scaranelo; Stephanie Telesca; Emily Thain; Nathan F Schachter; Jeanna M McCuaig; Raymond H Kim

doi:10.3390/cancers11050707

NF1 Patients Receiving Breast Cancer Screening: Insights from The Ontario High Risk Breast Screening Program

Cancers (Basel). 2019 May 22;11(5):707. doi: 10.3390/cancers11050707.

Authors

Nika Maani^{1

2

3}, Shelley Westergard⁴, Joanna Yang⁵, Anabel M Scaranelo^{6

7}, Stephanie Telesca⁸, Emily Thain⁹, Nathan F Schachter¹⁰, Jeanna M McCuaig^{11

12}, Raymond H Kim^{13

14}

Affiliations

¹ Program for Genetics and Genome Biology, Hospital for Sick Children, Toronto, ON M5G 1X8, Canada. [email protected].
² Familial Breast and Ovarian Cancer Clinic, Princess Margaret Hospital Cancer Centre, Toronto, ON M5G 2C1, Canada. [email protected].
³ Department of Molecular Genetics, University of Toronto, Toronto, ON M5S 1A8, Canada. [email protected].
⁴ Average and High-Risk Ontario Breast Screening Program, Princess Margaret Cancer Centre, Toronto, ON M5G 2C1, Canada. [email protected].
⁵ Department of Molecular Genetics, University of Toronto, Toronto, ON M5S 1A8, Canada. [email protected].
⁶ Department of Medical Imaging, University of Toronto, Toronto, ON M5T 1W7, Canada. [email protected].
⁷ Joint Department of Medical Imaging, Division of Breast Imaging, Princess Margaret Cancer Centre, Sinai Health System and Women's College Hospital, Toronto, ON M5G 2C1 and M5S 1B2, Canada. [email protected].
⁸ Prenatal Diagnosis and Medical Genetics Program, Mount Sinai Hospital, Toronto, ON M5G 1X5, Canada. [email protected].
⁹ Familial Breast and Ovarian Cancer Clinic, Princess Margaret Hospital Cancer Centre, Toronto, ON M5G 2C1, Canada. [email protected].
¹⁰ University Health Network, Toronto, ON M5GC4, Canada. [email protected].
¹¹ Familial Breast and Ovarian Cancer Clinic, Princess Margaret Hospital Cancer Centre, Toronto, ON M5G 2C1, Canada. [email protected].
¹² Department of Molecular Genetics, University of Toronto, Toronto, ON M5S 1A8, Canada. [email protected].
¹³ Familial Breast and Ovarian Cancer Clinic, Division of Medical Oncology and Hematology, Princess Margaret Cancer Centre, Toronto, ON M5G 2C1, Canada. [email protected].
¹⁴ Department of Medicine, University of Toronto, Toronto, ON M5S 1A8, Canada. [email protected].

Abstract

Neurofibromatosis Type I (NF1) is caused by variants in neurofibromin (NF1). NF1 predisposes to a variety of benign and malignant tumor types, including breast cancer. Women with NF1 <50 years of age possess an up to five-fold increased risk of developing breast cancer compared with the general population. Impaired emotional functioning is reported as a comorbidity that may influence the participation of NF1 patients in regular clinical surveillance despite their increased risk of breast and other cancers. Despite emphasis on breast cancer surveillance in women with NF1, the uptake and feasibility of high-risk screening programs in this population remains unclear. A retrospective chart review between 2014-2018 of female NF1 patients seen at the Elizabeth Raab Neurofibromatosis Clinic (ERNC) in Ontario was conducted to examine the uptake of high-risk breast cancer screening, radiologic findings, and breast cancer characteristics. 61 women with pathogenic variants in NF1 enrolled in the high-risk Ontario breast screening program (HR-OBSP); 95% completed at least one high-risk breast screening modality, and four were diagnosed with invasive breast cancer. Our findings support the integration of a formal breast screening programs in clinical management of NF1 patients.

Keywords: breast cancer; high-risk screening; neurofibromatosis type I; screening uptake.