Show simple item record

dc.contributor.authorYang, X
dc.contributor.authorLeslie, G
dc.contributor.authorDoroszuk, A
dc.contributor.authorSchneider, S
dc.contributor.authorAllen, J
dc.contributor.authorDecker, B
dc.contributor.authorDunning, AM
dc.contributor.authorRedman, J
dc.contributor.authorScarth, J
dc.contributor.authorPlaskocinska, I
dc.contributor.authorLuccarini, C
dc.contributor.authorShah, M
dc.contributor.authorPooley, K
dc.contributor.authorDorling, L
dc.contributor.authorLee, A
dc.contributor.authorAdank, MA
dc.contributor.authorAdlard, J
dc.contributor.authorAittomaki, K
dc.contributor.authorAndrulis, IL
dc.contributor.authorAng, P
dc.contributor.authorBarwell, J
dc.contributor.authorBernstein, JL
dc.contributor.authorBobolis, K
dc.contributor.authorBorg, A
dc.contributor.authorBlomqvist, C
dc.contributor.authorClaes, KBM
dc.contributor.authorConcannon, P
dc.contributor.authorCuggia, A
dc.contributor.authorCulver, JO
dc.contributor.authorDamiola, F
dc.contributor.authorde Pauw, A
dc.contributor.authorDiez, O
dc.contributor.authorDolinsky, JS
dc.contributor.authorDomchek, SM
dc.contributor.authorEngel, C
dc.contributor.authorEvans, DG
dc.contributor.authorFostira, F
dc.contributor.authorGarber, J
dc.contributor.authorGolmard, L
dc.contributor.authorGoode, EL
dc.contributor.authorGruber, SB
dc.contributor.authorHahnen, E
dc.contributor.authorHake, C
dc.contributor.authorHeikkinen, T
dc.contributor.authorHurley, JE
dc.contributor.authorJanavicius, R
dc.contributor.authorKleibl, Z
dc.contributor.authorKleiblova, P
dc.contributor.authorKonstantopoulou, I
dc.contributor.authorKvist, A
dc.contributor.authorLaduca, H
dc.contributor.authorLee, ASG
dc.contributor.authorLesueur, F
dc.contributor.authorMaher, ER
dc.contributor.authorMannermaa, A
dc.contributor.authorManoukian, S
dc.contributor.authorMcFarland, R
dc.contributor.authorMcKinnon, W
dc.contributor.authorMeindl, A
dc.contributor.authorMetcalfe, K
dc.contributor.authorTaib, NAM
dc.contributor.authorMoilanen, J
dc.contributor.authorNathanson, KL
dc.contributor.authorNeuhausen, S
dc.contributor.authorNg, PS
dc.contributor.authorNguyen-Dumont, T
dc.contributor.authorNielsen, SM
dc.contributor.authorObermair, F
dc.contributor.authorOffit, K
dc.contributor.authorOlopade, O
dc.contributor.authorOttini, L
dc.contributor.authorPenkert, J
dc.contributor.authorPylkas, K
dc.contributor.authorRadice, P
dc.contributor.authorRamus, SJ
dc.contributor.authorRudaitis, V
dc.contributor.authorSide, L
dc.contributor.authorSilva-Smith, R
dc.contributor.authorSilvestri, V
dc.contributor.authorSkytte, A-B
dc.contributor.authorSlavin, T
dc.contributor.authorSoukupova, J
dc.contributor.authorTondini, C
dc.contributor.authorTrainer, AH
dc.contributor.authorUnzeitig, G
dc.contributor.authorUsha, L
dc.contributor.authorHansen, TVO
dc.contributor.authorWhitworth, J
dc.contributor.authorWood, M
dc.contributor.authorYip, CH
dc.contributor.authorYoon, S-Y
dc.contributor.authorYussuf, A
dc.contributor.authorZogopoulos, G
dc.contributor.authorGoldgar, D
dc.contributor.authorHopper, JL
dc.contributor.authorChenevix-Trench, G
dc.contributor.authorPharoah, P
dc.contributor.authorGeorge, SHL
dc.contributor.authorBalmana, J
dc.contributor.authorHoudayer, C
dc.contributor.authorJames, P
dc.contributor.authorEl-Haffaf, Z
dc.contributor.authorEhrencrona, H
dc.contributor.authorJanatova, M
dc.contributor.authorPeterlongo, P
dc.contributor.authorNevanlinna, H
dc.contributor.authorSchmutzler, R
dc.contributor.authorTeo, S-H
dc.contributor.authorRobson, M
dc.contributor.authorPal, T
dc.contributor.authorCouch, F
dc.contributor.authorWeitzel, JN
dc.contributor.authorElliott, A
dc.contributor.authorSouthey, M
dc.contributor.authorWinqvist, R
dc.contributor.authorEaston, DF
dc.contributor.authorFoulkes, WD
dc.contributor.authorAntoniou, AC
dc.contributor.authorTischkowitz, M
dc.date.accessioned2020-12-14T05:45:37Z
dc.date.available2020-12-14T05:45:37Z
dc.date.issued2020-03-01
dc.identifier.citationYang, X., Leslie, G., Doroszuk, A., Schneider, S., Allen, J., Decker, B., Dunning, A. M., Redman, J., Scarth, J., Plaskocinska, I., Luccarini, C., Shah, M., Pooley, K., Dorling, L., Lee, A., Adank, M. A., Adlard, J., Aittomaki, K., Andrulis, I. L. ,... Tischkowitz, M. (2020). Cancer Risks Associated With Germline PALB2 Pathogenic Variants: An International Study of 524 Families. JOURNAL OF CLINICAL ONCOLOGY, 38 (7), pp.674-+. https://doi.org/10.1200/JCO.19.01907.
dc.identifier.issn0732-183X
dc.identifier.urihttp://hdl.handle.net/11343/253994
dc.description.abstractPURPOSE: 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 × 10-76), ovarian cancer (RR, 2.91; 95% CI, 1.40 to 6.04; P = 4.1 × 10-3), pancreatic cancer (RR, 2.37; 95% CI, 1.24 to 4.50; P = 8.7 × 10-3), and male breast cancer (RR, 7.34; 95% CI, 1.28 to 42.18; P = 2.6 × 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 × 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.
dc.languageEnglish
dc.publisherAMER SOC CLINICAL ONCOLOGY
dc.titleCancer Risks Associated With Germline PALB2 Pathogenic Variants: An International Study of 524 Families
dc.typeJournal Article
dc.identifier.doi10.1200/JCO.19.01907
melbourne.affiliation.departmentMelbourne School of Population and Global Health
melbourne.affiliation.departmentClinical Pathology
melbourne.affiliation.departmentMedicine (RMH)
melbourne.affiliation.facultyMedicine, Dentistry & Health Sciences
melbourne.source.titleJournal of Clinical Oncology
melbourne.source.volume38
melbourne.source.issue7
melbourne.source.pages674-+
melbourne.identifier.nhmrc1029974
melbourne.elementsid1426428
melbourne.openaccess.urlhttps://helda.helsinki.fi/bitstream/10138/316171/1/Cancer_risks_associated_with_germline_PALB2_pathogenic_variants.pdf
melbourne.openaccess.statusPublished version
melbourne.contributor.authorHopper, John
melbourne.contributor.authorSouthey, Melissa
melbourne.contributor.authorNguyen, Binh Thieu Tu
melbourne.contributor.authorJames, Paul
melbourne.contributor.authorTrainer, Alison
dc.identifier.eissn1527-7755
melbourne.identifier.fundernameidNHMRC, 1029974
melbourne.accessrightsAccess this item via the Open Access location


Files in this item

FilesSizeFormatView

There are no files associated with this item.

This item appears in the following Collection(s)

Show simple item record