Abstract
Background
This study aims to capture clinical and surgical practice patterns of patients with
deleterious mutations in partner and localizer of BRCA2 (PALB2), checkpoint kinase
2 (CHEK2) and ataxia telangiesctasia mutated (ATM) genes.
Materials and Methods
This study is a retrospective chart review of patients with PALB2, CHEK2 or ATM mutations.
Patient demographics, testing indications, management decisions, and surveillance
strategies were recorded.
Results
Sixty-two patients were found to have deleterious mutations: 14 (23%) with a PALB2
mutation, 30 (48%) with a CHEK2 mutation, and 18 (29%) patients with an ATM mutation.
Thirty-one (50%) patients have a history of breast cancer. Twenty-three patients were
diagnosed and treated prior to genetic testing while 8 patients learned of their mutation
status and breast cancer diagnosis simultaneously. Of these 8 patients, 4 sought treatment
at our institution, 3 underwent bilateral mastectomy, and 1 patient opted for lumpectomy
and surveillance.
Thirty-one patients had no history of breast cancer. After genetic diagnosis, 3 of
the 9 patients who continued clinical follow-up proceeded with bilateral prophylactic
mastectomy within 2 years. Clinical surveillance continued for 23 months on average.
Conclusion
Most patients who learned of their genetic and breast cancer diagnoses simultaneously
underwent bilateral mastectomy, whereas only a third of patients without cancer opted
for bilateral prophylactic mastectomy.
Keywords
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Article info
Publication history
Published online: February 15, 2023
Accepted:
February 8,
2023
Received in revised form:
February 6,
2023
Received:
October 22,
2022
Publication stage
In Press Journal Pre-ProofIdentification
Copyright
Published by Elsevier Inc.
