Yang, Xin, Leslie, Goska, Doroszuk, Alicja, Schneider, Sandra, Allen, Jamie ORCID: 0000-0002-8677-2225, Decker, Brennan ORCID: 0000-0003-4516-7421, Dunning, Alison M., Redman, James, Scarth, James ORCID: 0000-0002-0076-6853, Plaskocinska, Inga, Luccarini, Craig, Shah, Mitul, Pooley, Karen, Dorling, Leila, Lee, Andrew, Adank, Muriel A., Adlard, Julian, Aittomaki, Kristiina, Andrulis, Irene L., Ang, Peter, Barwell, Julian, Bernstein, Jonine L., Bobolis, Kristie, Borg, Ake, Blomqvist, Carl ORCID: 0000-0003-3041-1938, Claes, Kathleen B. M., Concannon, Patrick, Cuggia, Adeline, Culver, Julie O., Damiola, Francesca, de Pauw, Antoine, Diez, Orland, Dolinsky, Jill S., Domchek, Susan M., Engel, Christoph ORCID: 0000-0002-7247-282X, Evans, D. Gareth, Fostira, Florentia, Garber, Judy, Golmard, Lisa, Goode, Ellen L., Gruber, Stephen B., Hahnen, Eric, Hake, Christopher, Heikkinen, Tuomas ORCID: 0000-0003-1154-6204, Hurley, Judith E., Janavicius, Ramunas, Kleibl, Zdenek, Kleiblova, Petra, Konstantopoulou, Irene ORCID: 0000-0002-0470-0309, Kvist, Anders, Laduca, Holly, Lee, Ann S. G., Lesueur, Fabienne, Maher, Eamonn R., Mannermaa, Arto, Manoukian, Siranoush, McFarland, Rachel, McKinnon, Wendy, Meindl, Alfons, Metcalfe, Kelly, Taib, Nur Aishah Mohd ORCID: 0000-0001-8419-0478, Moilanen, Jukka, Nathanson, Katherine L., Neuhausen, Susan, Ng, Pei Sze, Nguyen-Dumont, Tu ORCID: 0000-0002-6217-0182, Nielsen, Sarah M., Obermair, Florian, Offit, Kenneth, Olopade, Olufunmilayo, I, Ottini, Laura, Penkert, Judith, Pylkas, Katri, Radice, Paolo, Ramus, Susan J., Rudaitis, Vilius, Side, Lucy, Silva-Smith, Rachel, Silvestri, Valentina, Skytte, Anne-Bine ORCID: 0000-0002-0067-9557, Slavin, Thomas, Soukupova, Jana, Tondini, Carlo, Trainer, Alison H., Unzeitig, Gary, Usha, Lydia, Hansen, Thomas van Overeem, Whitworth, James, Wood, Marie, Yip, Cheng Har, Yoon, Sook-Yee, Yussuf, Amal, Zogopoulos, George, Goldgar, David, Hopper, John L., Chenevix-Trench, Georgia ORCID: 0000-0002-1878-2587, Pharoah, Paul, George, Sophia H. L., Balmana, Judith, Houdayer, Claude, James, Paul ORCID: 0000-0002-4361-4657, El-Haffaf, Zaki, Ehrencrona, Hans ORCID: 0000-0002-5589-3622, Janatova, Marketa, Peterlongo, Paolo ORCID: 0000-0001-6951-6855, Nevanlinna, Heli, Schmutzler, Rita, Teo, Soo-Hwang, Robson, Mark, Pal, Tuya, Couch, Fergus, Weitzel, Jeffrey N., Elliott, Aaron, Southey, Melissa, Winqvist, Robert, Easton, Douglas F., Foulkes, William D., Antoniou, Antonis C. and Tischkowitz, Marc (2020). Cancer Risks Associated With Germline PALB2 Pathogenic Variants: An International Study of 524 Families. J. Clin. Oncol., 38 (7). S. 674 - 688. ALEXANDRIA: AMER SOC CLINICAL ONCOLOGY. ISSN 1527-7755

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Abstract

PURPOSE To estimate age-specific relative and absolute cancer risks of breast cancer and to estimate risks of ovarian, pancreatic, male breast, prostate, and colorectal cancers associated with germline PALB2 pathogenic variants (PVs) because these risks have not been extensively characterized. METHODS We analyzed data from 524 families with PALB2 PVs from 21 countries. Complex segregation analysis was used to estimate relative risks (RRs; relative to country-specific population incidences) and absolute risks of cancers. The models allowed for residual familial aggregation of breast and ovarian cancer and were adjusted for the family-specific ascertainment schemes. RESULTS We found associations between PALB2 PVs and risk of female breast cancer (RR, 7.18; 95% CI, 5.82 to 8.85; P = 6.5 x 10(-76)), ovarian cancer (RR, 2.91; 95% CI, 1.40 to 6.04; P = 4.1 x 10(-3)), pancreatic cancer (RR, 2.37; 95% CI, 1.24 to 4.50; P = 8.7 x 10(-3)), and male breast cancer (RR, 7.34; 95% CI, 1.28 to 42.18; P = 2.6 x 10(-2)). There was no evidence for increased risks of prostate or colorectal cancer. The breast cancer RRs declined with age (P for trend = 2.0 x 10(-3)). After adjusting for family ascertainment, breast cancer risk estimates on the basis of multiple case families were similar to the estimates from families ascertained through population-based studies (P for difference = .41). On the basis of the combined data, the estimated risks to age 80 years were 53% (95% CI, 44% to 63%) for female breast cancer, 5% (95% CI, 2% to 10%) for ovarian cancer, 2%-3% (95% CI females, 1% to 4%; 95% CI males, 2% to 5%) for pancreatic cancer, and 1% (95% CI, 0.2% to 5%) for male breast cancer. CONCLUSION These results confirm PALB2 as a major breast cancer susceptibility gene and establish substantial associations between germline PALB2 PVs and ovarian, pancreatic, and male breast cancers. These findings will facilitate incorporation of PALB2 into risk prediction models and optimize the clinical cancer risk management of PALB2 PV carriers. (C) 2019 by American Society of Clinical Oncology

Item Type: Journal Article
Creators:
CreatorsEmailORCIDORCID Put Code
Yang, XinUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Leslie, GoskaUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Doroszuk, AlicjaUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Schneider, SandraUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Allen, JamieUNSPECIFIEDorcid.org/0000-0002-8677-2225UNSPECIFIED
Decker, BrennanUNSPECIFIEDorcid.org/0000-0003-4516-7421UNSPECIFIED
Dunning, Alison M.UNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Redman, JamesUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Scarth, JamesUNSPECIFIEDorcid.org/0000-0002-0076-6853UNSPECIFIED
Plaskocinska, IngaUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Luccarini, CraigUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Shah, MitulUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Pooley, KarenUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Dorling, LeilaUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Lee, AndrewUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Adank, Muriel A.UNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Adlard, JulianUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Aittomaki, KristiinaUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Andrulis, Irene L.UNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Ang, PeterUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Barwell, JulianUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Bernstein, Jonine L.UNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Bobolis, KristieUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Borg, AkeUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Blomqvist, CarlUNSPECIFIEDorcid.org/0000-0003-3041-1938UNSPECIFIED
Claes, Kathleen B. M.UNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Concannon, PatrickUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Cuggia, AdelineUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Culver, Julie O.UNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Damiola, FrancescaUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
de Pauw, AntoineUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Diez, OrlandUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Dolinsky, Jill S.UNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Domchek, Susan M.UNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Engel, ChristophUNSPECIFIEDorcid.org/0000-0002-7247-282XUNSPECIFIED
Evans, D. GarethUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Fostira, FlorentiaUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Garber, JudyUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Golmard, LisaUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Goode, Ellen L.UNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Gruber, Stephen B.UNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Hahnen, EricUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Hake, ChristopherUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Heikkinen, TuomasUNSPECIFIEDorcid.org/0000-0003-1154-6204UNSPECIFIED
Hurley, Judith E.UNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Janavicius, RamunasUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Kleibl, ZdenekUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Kleiblova, PetraUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Konstantopoulou, IreneUNSPECIFIEDorcid.org/0000-0002-0470-0309UNSPECIFIED
Kvist, AndersUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Laduca, HollyUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Lee, Ann S. G.UNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Lesueur, FabienneUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Maher, Eamonn R.UNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Mannermaa, ArtoUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Manoukian, SiranoushUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
McFarland, RachelUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
McKinnon, WendyUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Meindl, AlfonsUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Metcalfe, KellyUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Taib, Nur Aishah MohdUNSPECIFIEDorcid.org/0000-0001-8419-0478UNSPECIFIED
Moilanen, JukkaUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Nathanson, Katherine L.UNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Neuhausen, SusanUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Ng, Pei SzeUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Nguyen-Dumont, TuUNSPECIFIEDorcid.org/0000-0002-6217-0182UNSPECIFIED
Nielsen, Sarah M.UNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Obermair, FlorianUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Offit, KennethUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Olopade, Olufunmilayo, IUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Ottini, LauraUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Penkert, JudithUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Pylkas, KatriUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Radice, PaoloUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Ramus, Susan J.UNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Rudaitis, ViliusUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Side, LucyUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Silva-Smith, RachelUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Silvestri, ValentinaUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Skytte, Anne-BineUNSPECIFIEDorcid.org/0000-0002-0067-9557UNSPECIFIED
Slavin, ThomasUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Soukupova, JanaUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Tondini, CarloUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Trainer, Alison H.UNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Unzeitig, GaryUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Usha, LydiaUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Hansen, Thomas van OvereemUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Whitworth, JamesUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Wood, MarieUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Yip, Cheng HarUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Yoon, Sook-YeeUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Yussuf, AmalUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Zogopoulos, GeorgeUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Goldgar, DavidUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Hopper, John L.UNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Chenevix-Trench, GeorgiaUNSPECIFIEDorcid.org/0000-0002-1878-2587UNSPECIFIED
Pharoah, PaulUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
George, Sophia H. L.UNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Balmana, JudithUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Houdayer, ClaudeUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
James, PaulUNSPECIFIEDorcid.org/0000-0002-4361-4657UNSPECIFIED
El-Haffaf, ZakiUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Ehrencrona, HansUNSPECIFIEDorcid.org/0000-0002-5589-3622UNSPECIFIED
Janatova, MarketaUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Peterlongo, PaoloUNSPECIFIEDorcid.org/0000-0001-6951-6855UNSPECIFIED
Nevanlinna, HeliUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Schmutzler, RitaUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Teo, Soo-HwangUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Robson, MarkUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Pal, TuyaUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Couch, FergusUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Weitzel, Jeffrey N.UNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Elliott, AaronUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Southey, MelissaUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Winqvist, RobertUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Easton, Douglas F.UNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Foulkes, William D.UNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Antoniou, Antonis C.UNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Tischkowitz, MarcUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
URN: urn:nbn:de:hbz:38-342684
DOI: 10.1200/JCO.19.01907
Journal or Publication Title: J. Clin. Oncol.
Volume: 38
Number: 7
Page Range: S. 674 - 688
Date: 2020
Publisher: AMER SOC CLINICAL ONCOLOGY
Place of Publication: ALEXANDRIA
ISSN: 1527-7755
Language: English
Faculty: Unspecified
Divisions: Unspecified
Subjects: no entry
Uncontrolled Keywords:
KeywordsLanguage
BRCA2-INTERACTING PROTEIN PALB2; ASCERTAINMENT SAMPLING PROBLEM; SUSCEPTIBILITY GENE-MUTATIONS; BREAST-CANCER; PANCREATIC-CANCER; BRCA2; OVARIAN; PENETRANCE; RESOLUTION; HISTORYMultiple languages
OncologyMultiple languages
URI: http://kups.ub.uni-koeln.de/id/eprint/34268

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