The Risk of Breast Cancer According to Mutation Type and Position in Carriers of a Pathogenic Variant in BRCA1.

doi:10.3390/curroncol32120705

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The Risk of Breast Cancer According to Mutation Type and Position in Carriers of a Pathogenic Variant in BRCA1.

Current oncology (Toronto, Ont.) - 15 Dec 2025

Kotsopoulos Joanne, Apostol Adriana I, Metcalfe Kelly, Jorgji Dimitri, Cybulski Cezary, Gronwald Jacek, Lubinski Jan, Moller Pal, Kim Raymond H, Aeilts Amber, Ramón Y Cajal Teresa, Pal Tuya, Bordeleau Louise, Karlan Beth Y, Singer Christian F, Foulkes William D, Couch Fergus J, Zakalik Dana, Fruscio Robert, Tung Nadine, Sun Ping, Monteiro Alvaro N, Narod Steven A, Akbari Mohammad R

Abstract excerpt

BACKGROUND: Carriers of a pathogenic variant (PV) in BRCA1 face a high risk of breast cancer. This study estimated the risk of developing breast cancer according to mutation type and location. METHODS: BRCA1 carriers with no personal history of breast cancer or bilateral mastectomy were included. Detailed information on clinical and family history was collected by questionnaire. Survival analysis was used to...

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PMID: 41440233
DOI: 10.3390/curroncol32120705
PMCID: PMC12731516

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BRCA1

Variants

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