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Current Breast Cancer Reports

Erschienen in:

09.07.2018 | Risk and Prevention (ME Wood, Section Editor)

Risk and Prevention for Highly Penetrant Genes

verfasst von: Ami Chitalia, Katia Khoury, Claudine Isaacs

Erschienen in: Current Breast Cancer Reports | Ausgabe 3/2018

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Abstract

Purpose of Review

Approximately 10% of breast cancer cases are attributed to a hereditary predisposition. Here, we review the risks and management options for highly penetrant genes including BRCA1/2, TP53, PTEN, CDH1, STK11, and PALB2 which confer a 5 to greater than 10-fold increased risk of breast cancer, and an increased risk of other cancers.

Recent Findings

Risk-reducing salpingo-oophorectomy (RRSO) reduces mortality in BRCA1/2 carriers. Other management strategies are tailored to the hereditary cancer syndrome in question and include more intensive screening with imaging and serologic studies, risk-reducing surgeries such as mastectomy, and consideration of risk reduction agents.

Summary

Given the advances in our knowledge regarding the impact of management strategies in mutation carriers, genetic testing for high-penetrance breast cancer genes has become standard of care. It is critically important to discuss the implications of testing unaffected family members, in order to be able to offer impactful interventions to healthy at-risk individuals.

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Titel: Risk and Prevention for Highly Penetrant Genes
verfasst von: Ami Chitalia
Katia Khoury
Claudine Isaacs
Publikationsdatum: 09.07.2018
Verlag: Springer US
Erschienen in: Current Breast Cancer Reports / Ausgabe 3/2018
Print ISSN: 1943-4588
Elektronische ISSN: 1943-4596
DOI: https://doi.org/10.1007/s12609-018-0282-y

Neu im Fachgebiet Onkologie

24.04.2024 | DGIM 2024 | Nachrichten

Springer Medizin

Risk and Prevention for Highly Penetrant Genes

Abstract

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Recent Findings

Summary

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Springer Medizin

Abstract

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Summary

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