Risk for breast cancer and management of unaffected individuals with non-BRCA hereditary breast cancer.
breast cancer risk
highly penetrant genes
moderately penetrant genes
prevention
risk reduction
screening
Journal
The breast journal
ISSN: 1524-4741
Titre abrégé: Breast J
Pays: United States
ID NLM: 9505539
Informations de publication
Date de publication:
08 2020
08 2020
Historique:
received:
06
12
2019
accepted:
12
12
2019
pubmed:
3
8
2020
medline:
22
6
2021
entrez:
3
8
2020
Statut:
ppublish
Résumé
About 5%-10% of breast cancer is hereditary with BRCA1 and BRCA2 being the most common genes associated with hereditary breast cancer (HBC). Several additional genes have recently been associated with HBC. These genes can be classified as highly or moderately penetrant genes with lifetime risk >30% or 17%-30%, respectively. Highly penetrant genes associated with HBC include TP53, PTEN, CDH1, STK11, and PALB2. While, moderately penetrant genes include CHEK2, ATM, BARD1, BRIP1, NBN, NF1, RAD51D, and MSH6. Breast cancer risk and recommendations for screening and risk-reduction vary by gene. In general, screening breast MRI is recommended for women at >20% lifetime risk, which includes women with mutations in highly penetrant genes and the majority (but not all) moderately penetrant genes. Consideration of chemoprevention is recommended for women with mutations in high and moderately penetrant genes. Risk-reducing mastectomy does reduce the risk of breast cancer to the greatest extent and can be considered for women with highly penetrant genes. However, this procedure is associated with significant morbidities that should be considered, especially given the benefit of using screening breast MRI for high-risk women. BSO is only recommended for women with mutations in genes associate with increased risk for ovarian cancer and not as a breast cancer risk-reducing strategy. As more women undergo testing, additional genes may be identified and risk estimates for current genes and management recommendations may be modified.
Types de publication
Journal Article
Langues
eng
Sous-ensembles de citation
IM
Pagination
1528-1534Informations de copyright
© 2020 Wiley Periodicals LLC.
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