Cancer Surveillance in Healthy Carriers of Germline Pathogenic Variants in BRCA1/2: A Review of Secondary Prevention Guidelines - PubMed

Cancer Surveillance in Healthy Carriers of Germline Pathogenic Variants in BRCA1/2: A Review of Secondary Prevention Guidelines - PubMed

Cancer Surveillance in Healthy Carriers of Germline Pathogenic Variants in BRCA1/2: A Review of Secondary Prevention Guidelines

Boudewijn Dullens 1 2, Robin de Putter 3, Matteo Lambertini 4 5, Angela Toss 6, Sileny Han 2 7, Els Van Nieuwenhuysen 2 7, Toon Van Gorp 2 7, Adriaan Vanderstichele 2 7, Chantal Van Ongeval 2 8, Machteld Keupers 2 8, Renate Prevos 2 8, Valerie Celis 2 8, Jeroen Dekervel 9, Wouter Everaerts 10, Hans Wildiers 1 2, Ines Nevelsteen 2 11, Patrick Neven 2 7, Dirk Timmerman 7, Ann Smeets 2 11, Ellen Denayer 2 12, Griet Van Buggenhout 2 12, Eric Legius 2 12, Kevin Punie 1 2

Affiliations 

• PMID: 32655641
 
• PMCID: PMC7322604
 
• DOI: 10.1155/2020/9873954

Free PMC article

Abstract

Germline pathogenic alterations in the breast cancer susceptibility genes 1 (BRCA1) and 2 (BRCA2) are the most prevalent causes of hereditary breast and ovarian cancer. The increasing trend in proportion of cancer patients undergoing genetic testing, followed by predictive testing in families of new index patients, results in a significant increase of healthy germline BRCA1/2 mutation carriers who are at increased risk for breast, ovarian, and other BRCA-related cancers. This review aims to give an overview of available screening guidelines for female and male carriers of pathogenic or likely pathogenic germline BRCA1/2 variants per cancer type, incorporating malignancies that are more or less recently well correlated with BRCA1/2. We selected guidelines from national/international organizations and/or professional associations that were published or updated between January 1, 2015, and February 1, 2020. In total, 12 guidelines were included. This review reveals several significant discordances between the different guidelines. Optimal surveillance strategies depend on accurate age-specific cancer risk estimates, which are not reliably available for all BRCA-related cancers. Up-to-date national or international consensus guidelines are of utmost importance to harmonize counseling and proposed surveillance strategies for BRCA1/2 carriers.

Copyright © 2020 Boudewijn Dullens et al.

Conflict of interest statement

RdP receives honoraria for advisory board for Astra Zeneca. ML has the advisory role for Roche and receives speaker honoraria from Theramex, Takeda, Roche, and Lilly. AT has the advisory role for Lilly and Roche. CVO, MK, and RP authorize the advisory role for the Belgian Society of Human Genetics guidelines. WE receives honoraria for consulting and speaker fees from Janssen, Astellas, and Bayer. He is a senior clinical researcher of FWO Flanders. HW receives consulting fees and honoraria from Abbvie, Amgen, Ariez International, Astra Zeneca, Biocartes, Celldex Therapeutics, DNA Prime, Janssen-CILAG, Lilly, Novartis, ORION Corporation, Pfizer, The Planning Shop, PUMA Biotechnology, Roche, Sirtex, TRM Oncology, and Vifor Pharma. He also receives travel support from Roche, Pfizer, Nippon Travel Agency, Congress Care, DNA Prime, and Global Teamwork. PN receives honoraria for consultancy and/or advisory roles from Pfizer, Novartis, Eli Lilly, and Roche. He receives research funding from Kom op Tegen Kanker. RdP, ED, GVB, and EL are the co-authors of the Belgian Society of Human Genetics guidelines. KP has the advisory/consultancy role for Astra Zeneca, Eli Lilly, Novartis, Pfizer, Pierre Fabre, Roche, and Vifor Pharma. He also receives speaker fees for Eli Lilly, Mundi Pharma, Novartis, Pfizer, and Roche and receives research funding from Sanofi. He obtains travel support from Astra Zeneca, Novartis, Pfizer, Pharma Mar, and Roche. The other authors declare that there are no conflicts of interest.