Cancer Risks Associated With BRCA1 and BRCA2 Pathogenic Variants.
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Authors
Nielsen, Henriette Roed
McGuffog, Lesley
Arnold, Norbert
Belotti, Muriel
Buecher, Bruno
Colas, Chrystelle
Colonna, Sarah V
Cook, Jackie
Daly, Mary B
Delhomelle, Hélène
Eason, Jacqueline
Evans, D Gareth
Faust, Ulrike
Fehm, Tanja N
Garcia-Barberan, Vanesa
Gauthier-Villars, Marion
Gehrig, Andrea
Greene, Mark H
Hamann, Ute
Hentschel, Julia
Horvath, Judit
Izatt, Louise
Janavicius, Ramunas
Kim, Sung-Won
Kwong, Ava
Laugé, Anthony
Mebirouk, Noura
Meindl, Alfons
Mouret-Fourme, Emmanuelle
Musgrave, Hannah
Park, Sue K
Ramser, Juliane
Rantala, Johanna
Reichl, Florian
Ritter, Julia
Santamariña, Marta
Schmidt, Gunnar
Schmutzler, Rita K
Sutter, Christian
Tan, Yen
Thomassen, Mads
Torres, Diana
Wang-Gohrke, Shan
Wappenschmidt, Barbara
Publication Date
2022-05-10Journal Title
J Clin Oncol
ISSN
0732-183X
Publisher
American Society of Clinical Oncology (ASCO)
Type
Article
This Version
VoR
Metadata
Show full item recordCitation
Li, S., Silvestri, V., Leslie, G., Rebbeck, T. R., Neuhausen, S. L., Hopper, J. L., Nielsen, H. R., et al. (2022). Cancer Risks Associated With BRCA1 and BRCA2 Pathogenic Variants.. J Clin Oncol https://doi.org/10.1200/JCO.21.02112
Abstract
PURPOSE: To provide precise age-specific risk estimates of cancers other than female breast and ovarian cancers associated with pathogenic variants (PVs) in BRCA1 and BRCA2 for effective cancer risk management. METHODS: We used data from 3,184 BRCA1 and 2,157 BRCA2 families in the Consortium of Investigators of Modifiers of BRCA1/2 to estimate age-specific relative (RR) and absolute risks for 22 first primary cancer types adjusting for family ascertainment. RESULTS: BRCA1 PVs were associated with risks of male breast (RR = 4.30; 95% CI, 1.09 to 16.96), pancreatic (RR = 2.36; 95% CI, 1.51 to 3.68), and stomach (RR = 2.17; 95% CI, 1.25 to 3.77) cancers. Associations with colorectal and gallbladder cancers were also suggested. BRCA2 PVs were associated with risks of male breast (RR = 44.0; 95% CI, 21.3 to 90.9), stomach (RR = 3.69; 95% CI, 2.40 to 5.67), pancreatic (RR = 3.34; 95% CI, 2.21 to 5.06), and prostate (RR = 2.22; 95% CI, 1.63 to 3.03) cancers. The stomach cancer RR was higher for females than males (6.89 v 2.76; P = .04). The absolute risks to age 80 years ranged from 0.4% for male breast cancer to approximately 2.5% for pancreatic cancer for BRCA1 carriers and from approximately 2.5% for pancreatic cancer to 27% for prostate cancer for BRCA2 carriers. CONCLUSION: In addition to female breast and ovarian cancers, BRCA1 and BRCA2 PVs are associated with increased risks of male breast, pancreatic, stomach, and prostate (only BRCA2 PVs) cancers, but not with the risks of other previously suggested cancers. The estimated age-specific risks will refine cancer risk management in men and women with BRCA1/2 PVs.
Sponsorship
Cancer Research UK (C12292/A20861, 197 C12292/A11174 and PPRPGM-Nov20\100002)
Funder references
Cancer Research Uk (None)
Cancer Research UK (20861)
Cancer Research UK (C12292/A31369)
Identifiers
External DOI: https://doi.org/10.1200/JCO.21.02112
This record's URL: https://www.repository.cam.ac.uk/handle/1810/331009
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