Cancer risks associated with BRCA1 and BRCA2 pathogenic variants
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 Conso...
Gespeichert in:
| Hauptverfasser: | , , |
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| Dokumenttyp: | Article (Journal) |
| Sprache: | Englisch |
| Veröffentlicht: |
January 25, 2022
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| In: |
Journal of clinical oncology
Year: 2022, Jahrgang: 40, Heft: 14, Pages: 1529-1541 |
| ISSN: | 1527-7755 |
| DOI: | 10.1200/JCO.21.02112 |
| Online-Zugang: | Verlag, lizenzpflichtig, Volltext: https://doi.org/10.1200/JCO.21.02112 Verlag, lizenzpflichtig, Volltext: https://ascopubs.org/doi/abs/10.1200/JCO.21.02112 
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| Verfasserangaben: | Shuai Li, MD, PhD; Valentina Silvestri, PhD; Goska Leslie, MEng; Timothy R. Rebbeck, PhD; Susan L. Neuhausen, PhD; John L. Hopper, PhD; Henriette Roed Nielsen, PhD; Andrew Lee, CASM; Xin Yang, PhD; Lesley McGuffog; Michael T. Parsons, BSc; Irene L. Andrulis, PhD; Norbert Arnold, PhD; Muriel Belotti, PhD; ̊Ake Borg, PhD; Bruno Buecher, MD; Saundra S. Buys, MD; Sandrine M. Caputo, PhD; Wendy K. Chung, MD, PhD; Chrystelle Colas, MD, PhD; Sarah V. Colonna, MD; Jackie Cook, MBBS; Mary B. Daly, MD, PhD; Miguel de la Hoya, PhD; Antoine de Pauw, PhD; Helene Delhomelle, PhD; Jacqueline Eason, MBChB, DM; Christoph Engel, MD; D. Gareth Evans, MD; Ulrike Faust, PhD; Tanja N. Fehm, MD; Florentia Fostira, PhD; George Fountzilas, MD, PhD; Megan Frone, MSc; Vanesa Garcia-Barberan, PhD; Pilar Garre, PhD; Marion Gauthier-Villars, MD; Andrea Gehrig, PhD; Gord Glendon, MSc; David E. Goldgar, PhD; Lisa Golmard, PharmD, PhD14,15 ; Mark H. Greene, MD; Eric Hahnen, PhD; Ute Hamann, PhD; Helen Hanson, MBBS, MD; Tiara Hassan, MGenCoun; Julia Hentschel, PhD; Judit Horvath, MD; Louise Izatt, PhD; Ramunas Janavicius, MD, PhD; Yue Jiao, PhD; Esther M. John, PhD; Beth Y. Karlan, MD; Sung-Won Kim, MD, PhD; Irene Konstantopoulou, PhD; Ava Kwong, MBBS, FRCS, PhD; Anthony Lauge, MSc; Jong Won Lee, PhD; Fabienne Lesueur, PhD; Noura Mebirouk, MSc; Alfons Meindl, PhD; Emmanuelle Mouret-Fourme, MD; Hannah Musgrave, MSc; Joanne Ngeow Yuen Yie, MBBS, MPH; Dieter Niederacher, PhD; Sue K. Park, MD, PhD; Inge Sokilde Pedersen, PhD; Juliane Ramser, PhD; Susan J. Ramus, PhD; Johanna Rantala, PhD; Muhammad U. Rashid, MD, PhD; Florian Reichl, MD; Julia Ritter, PhD; Andreas Rump, PhD; Marta Santamariña, PhD; Claire Saule, MD; Gunnar Schmidt, PhD; Rita K. Schmutzler, MD; Leigha Senter, MSc; Saba Shariff, MBBS; Christian F. Singer, MD, MPH; Melissa C. Southey, PhD; Dominique Stoppa-Lyonnet, MD, PhD; Christian Sutter, PhD; Yen Tan, PhD; Soo Hwang Teo, PhD; Mary Beth Terry, PhD; Mads Thomassen, PhD; Marc Tischkowitz, MD, PhD; Amanda E. Toland, PhD; Diana Torres, PhD; Ana Vega, PhD; Sebastian A. Wagner, MD; Shan Wang-Gohrke, MD, PhD; Barbara Wappenschmidt, PhD; Bernhard H.F. Weber, PhD; Drakoulis Yannoukakos, PhD; Amanda B. Spurdle, PhD; Douglas F. Easton, PhD; Georgia Chenevix-Trench, PhD; Laura Ottini, MD; and Antonis C. Antoniou, PhD |
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| 245 | 1 | 0 | |a Cancer risks associated with BRCA1 and BRCA2 pathogenic variants |c Shuai Li, MD, PhD; Valentina Silvestri, PhD; Goska Leslie, MEng; Timothy R. Rebbeck, PhD; Susan L. Neuhausen, PhD; John L. Hopper, PhD; Henriette Roed Nielsen, PhD; Andrew Lee, CASM; Xin Yang, PhD; Lesley McGuffog; Michael T. Parsons, BSc; Irene L. Andrulis, PhD; Norbert Arnold, PhD; Muriel Belotti, PhD; ̊Ake Borg, PhD; Bruno Buecher, MD; Saundra S. Buys, MD; Sandrine M. Caputo, PhD; Wendy K. Chung, MD, PhD; Chrystelle Colas, MD, PhD; Sarah V. Colonna, MD; Jackie Cook, MBBS; Mary B. Daly, MD, PhD; Miguel de la Hoya, PhD; Antoine de Pauw, PhD; Helene Delhomelle, PhD; Jacqueline Eason, MBChB, DM; Christoph Engel, MD; D. Gareth Evans, MD; Ulrike Faust, PhD; Tanja N. Fehm, MD; Florentia Fostira, PhD; George Fountzilas, MD, PhD; Megan Frone, MSc; Vanesa Garcia-Barberan, PhD; Pilar Garre, PhD; Marion Gauthier-Villars, MD; Andrea Gehrig, PhD; Gord Glendon, MSc; David E. Goldgar, PhD; Lisa Golmard, PharmD, PhD14,15 ; Mark H. Greene, MD; Eric Hahnen, PhD; Ute Hamann, PhD; Helen Hanson, MBBS, MD; Tiara Hassan, MGenCoun; Julia Hentschel, PhD; Judit Horvath, MD; Louise Izatt, PhD; Ramunas Janavicius, MD, PhD; Yue Jiao, PhD; Esther M. John, PhD; Beth Y. Karlan, MD; Sung-Won Kim, MD, PhD; Irene Konstantopoulou, PhD; Ava Kwong, MBBS, FRCS, PhD; Anthony Lauge, MSc; Jong Won Lee, PhD; Fabienne Lesueur, PhD; Noura Mebirouk, MSc; Alfons Meindl, PhD; Emmanuelle Mouret-Fourme, MD; Hannah Musgrave, MSc; Joanne Ngeow Yuen Yie, MBBS, MPH; Dieter Niederacher, PhD; Sue K. Park, MD, PhD; Inge Sokilde Pedersen, PhD; Juliane Ramser, PhD; Susan J. Ramus, PhD; Johanna Rantala, PhD; Muhammad U. Rashid, MD, PhD; Florian Reichl, MD; Julia Ritter, PhD; Andreas Rump, PhD; Marta Santamariña, PhD; Claire Saule, MD; Gunnar Schmidt, PhD; Rita K. Schmutzler, MD; Leigha Senter, MSc; Saba Shariff, MBBS; Christian F. Singer, MD, MPH; Melissa C. Southey, PhD; Dominique Stoppa-Lyonnet, MD, PhD; Christian Sutter, PhD; Yen Tan, PhD; Soo Hwang Teo, PhD; Mary Beth Terry, PhD; Mads Thomassen, PhD; Marc Tischkowitz, MD, PhD; Amanda E. Toland, PhD; Diana Torres, PhD; Ana Vega, PhD; Sebastian A. Wagner, MD; Shan Wang-Gohrke, MD, PhD; Barbara Wappenschmidt, PhD; Bernhard H.F. Weber, PhD; Drakoulis Yannoukakos, PhD; Amanda B. Spurdle, PhD; Douglas F. Easton, PhD; Georgia Chenevix-Trench, PhD; Laura Ottini, MD; and Antonis C. Antoniou, PhD |
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| 246 | 3 | 3 | |a Cancer risks associated with BRCA 1 and BRCA 2 pathogenic variants |
| 264 | 1 | |c January 25, 2022 | |
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| 520 | |a 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. | ||
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