Breast cancer in patients with Lynch syndrome: A single institution retrospective analysis

Salvatora tindara Miano; Roberto Petrioli; Ignazio Martellucci; Francesco Montagnani; Serenella Civitelli; Guido Francini; Dario Giuffrida; Maria Antonietta Mencarelli; Alessandra Renieri; Angela Prestifilippo; Edoardo Francini

doi:10.1200/JCO.2023.41.16_suppl.e22549

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Breast cancer in patients with Lynch syndrome: A single institution retrospective analysis

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Breast cancer in patients with Lynch syndrome: A single institution retrospective analysis

Salvatora tindara Miano, Roberto Petrioli, Ignazio Martellucci, Francesco Montagnani, Serenella Civitelli, Guido Francini, Dario Giuffrida, Maria Antonietta Mencarelli, Alessandra Renieri, Angela Prestifilippo, …

Journal of clinical oncology, Vol.41(16_suppl), pp.e22549-e22549

06/01/2023

DOI: 10.1200/JCO.2023.41.16_suppl.e22549

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Abstract

e22549 Background: Lynch syndrome (LS) is associated with an increased risk of several malignancies including gastrointestinal, genitourinary, gynecologic, skin, and brain cancers. However, whether patients with LS have higher risk of developing breast cancer (BC) or not is still controversial and a relevant clinical question. Methods: From the Santa Maria alle Scotte Hospital registry, we retrospectively identified consecutive patients with LS diagnosed by detecting a germline heterozygous pathogenic or likely-pathogenic variant in MLH1, MSH2, MSH6 or PMS2 on molecular genetic testing within April 2016-January 2022. We compared our sample size to Surveillance, Epidemiology, and End Results Program (SEER) of 2017 National Cancer Institute database. Results: Overall, 43 patients with LS were identified. Of those, 11 (25.6%; 95% CI 1.58-26.72%; p < 0.0001) had histologically confirmed BC, 10 (91%) of whom were hormone receptor positive tumors and BC is the only diagnosis of cancer to date. In this 11 patients median age at diagnosis was 54.5 years. 45% of 11 BC LS patients has germinal MSH2 mutation , 45% of 11% are MSH6 mutaded and has a more aggressive breast cancer. Median follow-up was 3 years and 8 months. All patients are still alive and under treatment. Conclusions: Within the limitations of a small sample size and retrospective design, our analysis suggests a significant association between patients with LS and the diagnosis of primary BC. Validation of such findings through prospective clinical studies with larger samples is warranted and would lead to fundamental modifications to LS screening and follow-up international recommendations.

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Title: Subtitle: Breast cancer in patients with Lynch syndrome: A single institution retrospective analysis
Creators: Salvatora tindara Miano - Azienda Ospedaliera Universitaria Senese
Roberto Petrioli - Azienda Ospedaliera Universitaria Senese
Ignazio Martellucci - Azienda Ospedaliera Universitaria Senese
Francesco Montagnani - Ospedale Biella ASLBI, Biella, Italy, Biella, Italy
Serenella Civitelli - Azienda Ospedaliera Universitaria Senese
Guido Francini - University of Siena
Dario Giuffrida - Ist Oncol Meidterraneo, Viagrande, CT, Italy
Maria Antonietta Mencarelli - Azienda Ospedaliera Universitaria Senese
Alessandra Renieri - University of Siena
Angela Prestifilippo - Istituto Oncologico Veneto
Edoardo Francini - Institute of Oncology Research
Resource Type: Abstract
Publication Details: Journal of clinical oncology, Vol.41(16_suppl), pp.e22549-e22549
DOI: 10.1200/JCO.2023.41.16_suppl.e22549
ISSN: 0732-183X
eISSN: 1527-7755
Publisher: LIPPINCOTT WILLIAMS & WILKINS; PHILADELPHIA
Language: English
Date published: 06/01/2023
Academic Unit: Internal Medicine
Record Identifier: 9985223629202771

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