Diagnosis, Management, and Surveillance for Patients With PALB2, CHEK2, and ATM Gene Mutations

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. This study is a retrospective chart review of patients with PALB2, CHEK2 or...

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Bibliographic Details
Published in:	Clinical breast cancer Vol. 23; no. 4; pp. e194 - e199
Main Authors:	Fencer, Maria G., Krupa, Kelly A., Bleich, Gabrielle C., Grumet, Sherry, Eladoumikdachi, Firas G., Kumar, Shicha, Kowzun, Maria J., Potdevin, Lindsay B.
Format:	Journal Article
Language:	English
Published:	United States Elsevier Inc 01-06-2023
Subjects:	Ataxia Ataxia Telangiectasia Mutated Proteins - genetics Breast Cancer Breast Neoplasms - diagnosis Breast Neoplasms - genetics Breast Neoplasms - surgery Checkpoint Kinase 2 - genetics Fanconi Anemia Complementation Group N Protein - genetics Female Genetic Predisposition to Disease High Risk Management Humans Mastectomy Mutation Retrospective Studies Breast Cancer High Risk Management
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Summary:	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. 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. 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. 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. A retrospective study, to examine less commonly studied breast cancer predisposition genes; partner and localizer of BRCA2 (PALB2), checkpoint kinase 2 (CHEK2) and ataxia telangiesctasia mutated (ATM) genes. Management strategies and surveillance recommendations are largely based on patient characteristics and other risk factors such as family history. The study aims to capture clinical and surgical practice patterns of patients with mutations.
Bibliography:	ObjectType-Article-1 SourceType-Scholarly Journals-1 ObjectType-Feature-2 content type line 23
ISSN:	1526-8209 1938-0666
DOI:	10.1016/j.clbc.2023.02.004