Effects of Germline Pathogenic Variants, Cancer Subtypes, Tumor-related Characteristics, and Pregnancy-associated Diagnosis on Outcomes.


Journal

Clinical breast cancer
ISSN: 1938-0666
Titre abrégé: Clin Breast Cancer
Pays: United States
ID NLM: 100898731

Informations de publication

Date de publication:
02 2021
Historique:
received: 21 04 2020
revised: 02 07 2020
accepted: 06 07 2020
pubmed: 3 8 2020
medline: 26 11 2021
entrez: 3 8 2020
Statut: ppublish

Résumé

Although breast cancer (BC) is uncommon in women age ≤ 35 years, women in this age group may have more aggressive cancer subtypes and high-risk pathogenic variants (HRPVs). Higher recurrence and mortality rates in young patients may be related to differences in tumor biology, pathologic mutation status, or treatment. The purpose of this study was to evaluate germline mutation status and other factors that affect recurrence-free survival (RFS) and overall survival (OS) in young women with BC. This was a retrospective study of women diagnosed with BC at age ≤ 35 years at Allina Health System from 2000 through 2017 (n = 306). Information was collected on germline mutation status, tumor characteristics (grade, hormone receptor, and human epidermal growth factor receptor 2), molecular subtype, pregnancy-associated cancers, and treatment. Survival analyses using Kaplan-Meier curves were conducted for RFS and OS. With mean follow-up of 6.5 years, OS was 87.0% for invasive cancers, RFS was 84.7%; 69% obtained genetic testing, and 26.9% had HRPVs. There were no differences in RFS or OS between patients with HRPV versus unknown/low/moderate risk variants. Recurrence analysis showed increased recurrence rates in luminal B-like cancers followed by triple negative and human epidermal growth factor receptor 2-positive cancers (P = .041). Pregnancy-associated BC diagnoses, angiolymphatic invasion, and tumor stage were associated with reduced OS. In spite of young age at diagnosis, nearly one-third of patients did not receive germline genetic testing. Similar survival patterns were found between women with HRPV versus no known mutations. Luminal B-like subtype, pregnancy-associated BC, angiolymphatic invasion, and cancer stage were associated with reduced OS.

Sections du résumé

BACKGROUND
Although breast cancer (BC) is uncommon in women age ≤ 35 years, women in this age group may have more aggressive cancer subtypes and high-risk pathogenic variants (HRPVs). Higher recurrence and mortality rates in young patients may be related to differences in tumor biology, pathologic mutation status, or treatment. The purpose of this study was to evaluate germline mutation status and other factors that affect recurrence-free survival (RFS) and overall survival (OS) in young women with BC.
MATERIALS AND METHODS
This was a retrospective study of women diagnosed with BC at age ≤ 35 years at Allina Health System from 2000 through 2017 (n = 306). Information was collected on germline mutation status, tumor characteristics (grade, hormone receptor, and human epidermal growth factor receptor 2), molecular subtype, pregnancy-associated cancers, and treatment. Survival analyses using Kaplan-Meier curves were conducted for RFS and OS.
RESULTS
With mean follow-up of 6.5 years, OS was 87.0% for invasive cancers, RFS was 84.7%; 69% obtained genetic testing, and 26.9% had HRPVs. There were no differences in RFS or OS between patients with HRPV versus unknown/low/moderate risk variants. Recurrence analysis showed increased recurrence rates in luminal B-like cancers followed by triple negative and human epidermal growth factor receptor 2-positive cancers (P = .041). Pregnancy-associated BC diagnoses, angiolymphatic invasion, and tumor stage were associated with reduced OS. In spite of young age at diagnosis, nearly one-third of patients did not receive germline genetic testing.
CONCLUSIONS
Similar survival patterns were found between women with HRPV versus no known mutations. Luminal B-like subtype, pregnancy-associated BC, angiolymphatic invasion, and cancer stage were associated with reduced OS.

Identifiants

pubmed: 32739136
pii: S1526-8209(20)30169-5
doi: 10.1016/j.clbc.2020.07.003
pii:
doi:

Types de publication

Journal Article Research Support, Non-U.S. Gov't

Langues

eng

Sous-ensembles de citation

IM

Pagination

47-56

Informations de copyright

Copyright © 2020 Elsevier Inc. All rights reserved.

Auteurs

Michaela L Tsai (ML)

Allina Health System, Virginia Piper Cancer Institute, Minneapolis, MN.

Monica Knaack (M)

Allina Health System, Virginia Piper Cancer Institute, Minneapolis, MN.

Parker Martone (P)

Allina Health System, Virginia Piper Cancer Institute, Minneapolis, MN.

Janet Krueger (J)

Allina Health System, Virginia Piper Cancer Institute, Minneapolis, MN.

Shari R Baldinger (SR)

Allina Health System, Virginia Piper Cancer Institute, Minneapolis, MN.

Tamera J Lillemoe (TJ)

Hospital Pathology Associates, Allina Health Laboratories, Minneapolis, MN.

Barbara Susnik (B)

Hospital Pathology Associates, Allina Health Laboratories, Minneapolis, MN.

Erin Grimm (E)

Hospital Pathology Associates, Allina Health Laboratories, Minneapolis, MN.

Susan Olet (S)

Research Informatics, Allina Health System, Minneapolis, MN.

Natasha Rueth (N)

Allina Health System, Virginia Piper Cancer Institute, Minneapolis, MN.

Karen K Swenson (KK)

Allina Health System, Virginia Piper Cancer Institute, Minneapolis, MN. Electronic address: karen.swenson2@allina.com.

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Classifications MeSH