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Grant Details

Grant Number: 5U01CA069638-16 Interpret this number
Primary Investigator: Hopper, John
Organization: University Of Melbourne
Project Title: Australian Breast Cancer Family Registry
Fiscal Year: 2010
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Abstract

DESCRIPTION (provided by applicant): The broad objective of the Breast Cancer Family Registry (Breast CFR) is to establish and maintain a hypothesis-driven research infrastructure to provide a broad research agenda in the genetic epidemiology of breast and related cancers that covers a wide spectrum of interdisciplinary and translational projects. The Australian Breast Cancer Family Registry (ABCFR) has recruited 12,593 individuals from 3,091 families (average 4.1 per family). Of these, 8,694 individuals from 1,549 families (average 5.6 per family) were funded by the NIH. Data on deceased relatives or relatives who were unable to participate was collected using a proxy questionnaire for 13,870 relatives of the population-based cases, 8,011 relatives of the population-based controls and 1,750 relatives from the clinic-based families. We have collected 6,023 blood samples; 4,071 from 1,865 population-based families (2.2 per family) and 684 from 217 clinic-based families (3.2 per family). A total of 207 mutation carriers (114 BRCAl, 93 BRCA2) have been identified. Consistent with the infrastructure and research agenda in the Collaborative Component, the ABCFR will contribute to maintaining and restructuring the Breast CFR by: conducting a systematic follow-up of all registrants, including probands and male and female relatives; administering the core risk factor questionnaire and updating their personal and family history of cancer; expanding recruitment within carrier families and/or new breast cancer cases identified since baseline; collecting treatment and outcome data to facilitate clinical and translational research; continuing to maintain and expand the biospecimen collection; establishing lymphoblastoid cell lines, extracting DNA and establishing a centralized back-up of biospecimens at Coriell Cell Repositories; performing further BRCAl and BRCA2 mutation testing, including testing for large genomic alterations, maintaining and further developing the ABCFR Informatics Unit; working in collaboration with the new Informatics Support Center (ISC) at the Research Triangle Institute (RTI) to facilitate the use of the ABCFR data for research; contributing to study design, analysis and data management, contributing local expertise to enable collaborative behavioral research to be conducted in Australia and interdigitating with research conducted in other sites; providing an administrative structure to facilitate the future research and infrastructure activities listed above; and traveling to face-to-face meetings to continue the strong collaborative links already established.

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Publications

Breast-cancer risk in families with mutations in PALB2.
Authors: Antoniou AC, Casadei S, Heikkinen T, Barrowdale D, Pylkäs K, Roberts J, Lee A, Subramanian D, De Leeneer K, Fostira F, Tomiak E, Neuhausen SL, Teo ZL, Khan S, Aittomäki K, Moilanen JS, Turnbull C, Seal S, Mannermaa A, Kallioniemi A, Lindeman GJ, Buys SS, Andrulis IL, Radice P, Tondini C, Manoukian S, Toland AE, Miron P, Weitzel JN, Domchek SM, Poppe B, Claes KB, Yannoukakos D, Concannon P, Bernstein JL, James PA, Easton DF, Goldgar DE, Hopper JL, Rahman N, Peterlongo P, Nevanlinna H, King MC, Couch FJ, Southey MC, Winqvist R, Foulkes WD, Tischkowitz M
Source: N Engl J Med, 2014 Aug 7;371(6), p. 497-506.
PMID: 25099575
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Genetic predisposition to in situ and invasive lobular carcinoma of the breast.
Authors: Sawyer E, Roylance R, Petridis C, Brook MN, Nowinski S, Papouli E, Fletcher O, Pinder S, Hanby A, Kohut K, Gorman P, Caneppele M, Peto J, Dos Santos Silva I, Johnson N, Swann R, Dwek M, Perkins KA, Gillett C, Houlston R, Ross G, De Ieso P, Southey MC, Hopper JL, Provenzano E, Apicella C, Wesseling J, Cornelissen S, Keeman R, Fasching PA, Jud SM, Ekici AB, Beckmann MW, Kerin MJ, Marme F, Schneeweiss A, Sohn C, Burwinkel B, Guénel P, Truong T, Laurent-Puig P, Kerbrat P, Bojesen SE, Nordestgaard BG, Nielsen SF, Flyger H, Milne RL, Perez JI, Menéndez P, Benitez J, Brenner H, Dieffenbach AK, Arndt V, Stegmaier C, Meindl A, Lichtner P, Schmutzler RK, Lochmann M, Brauch H, Fischer HP, Ko YD, GENICA Network, Nevanlinna H, Muranen TA, Aittomäki K, Blomqvist C, Bogdanova NV, Dörk T, Lindblom A, Margolin S, Mannermaa A, Kataja V, Kosma VM, Hartikainen JM, Chenevix-Trench G, Investigators K, Lambrechts D, Weltens C, Van Limbergen E, Hatse S, Chang-Claude J, Rudolph A, Seibold P, Flesch-Janys D, Radice P, Peterlongo P, Bonanni B, Volorio S, Giles GG, Severi G, Baglietto L, McLean CA, Haiman CA, Henderson BE, Schumacher F, Le Marchand L, Simard J, Goldberg MS, Labrčche F, Dumont M, Kristensen V, Winqvist R, Pylkäs K, Jukkola-Vuorinen A, Kauppila S, Andrulis IL, Knight JA, Glendon G, Mulligan AM, Devillee P, Tollenaar RA, Seynaeve CM, Kriege M, Figueroa J, Chanock SJ, Sherman ME, Hooning MJ, Hollestelle A, van den Ouweland AM, van Deurzen CH, Li J, Czene K, Humphreys K, Cox A, Cross SS, Reed MW, Shah M, Jakubowska A, Lubinski J, Jaworska-Bieniek K, Durda K, Swerdlow A, Ashworth A, Orr N, Schoemaker M, Couch FJ, Hallberg E, González-Neira A, Pita G, Alonso MR, Tessier DC, Vincent D, Bacot F, Bolla MK, Wang Q, Dennis J, Michailidou K, Dunning AM, Hall P, Easton D, Pharoah P, Schmidt MK, Tomlinson I, Garcia-Closas M
Source: PLoS Genet, 2014 Apr;10(4), p. e1004285.
EPub date: 2014 Apr 17.
PMID: 24743323
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Alcohol consumption and survival after a breast cancer diagnosis: a literature-based meta-analysis and collaborative analysis of data for 29,239 cases.
Authors: Ali AM, Schmidt MK, Bolla MK, Wang Q, Gago-Dominguez M, Castelao JE, Carracedo A, Garzón VM, Bojesen SE, Nordestgaard BG, Flyger H, Chang-Claude J, Vrieling A, Rudolph A, Seibold P, Nevanlinna H, Muranen TA, Aaltonen K, Blomqvist C, Matsuo K, Ito H, Iwata H, Horio A, John EM, Sherman M, Lissowska J, Figueroa J, Garcia-Closas M, Anton-Culver H, Shah M, Hopper JL, Trichopoulou A, Bueno-de-Mesquita B, Krogh V, Weiderpass E, Andersson A, Clavel-Chapelon F, Dossus L, Fagherazzi G, Peeters PH, Olsen A, Wishart GC, Easton DF, Borgquist S, Overvad K, Barricarte A, González CA, Sánchez MJ, Amiano P, Riboli E, Key T, Pharoah PD
Source: Cancer Epidemiol Biomarkers Prev, 2014 Jun;23(6), p. 934-45.
EPub date: 2014 Mar 17.
PMID: 24636975
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Reproductive risk factors and oestrogen/progesterone receptor-negative breast cancer in the Breast Cancer Family Registry.
Authors: Work ME, John EM, Andrulis IL, Knight JA, Liao Y, Mulligan AM, Southey MC, Giles GG, Dite GS, Apicella C, Hibshoosh H, Hopper JL, Terry MB
Source: Br J Cancer, 2014 Mar 4;110(5), p. 1367-77.
EPub date: 2014 Feb 18.
PMID: 24548865
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Identification of new genetic susceptibility loci for breast cancer through consideration of gene-environment interactions.
Authors: Schoeps A, Rudolph A, Seibold P, Dunning AM, Milne RL, Bojesen SE, Swerdlow A, Andrulis I, Brenner H, Behrens S, Orr N, Jones M, Ashworth A, Li J, Cramp H, Connley D, Czene K, Darabi H, Chanock SJ, Lissowska J, Figueroa JD, Knight J, Glendon G, Mulligan AM, Dumont M, Severi G, Baglietto L, Olson J, Vachon C, Purrington K, Moisse M, Neven P, Wildiers H, Spurdle A, Kosma VM, Kataja V, Hartikainen JM, Hamann U, Ko YD, Dieffenbach AK, Arndt V, Stegmaier C, Malats N, Arias Perez JI, Benítez J, Flyger H, Nordestgaard BG, Truong T, Cordina-Duverger E, Menegaux F, dos Santos Silva I, Fletcher O, Johnson N, Häberle L, Beckmann MW, Ekici AB, Braaf L, Atsma F, van den Broek AJ, Makalic E, Schmidt DF, Southey MC, Cox A, Simard J, Giles GG, Lambrechts D, Mannermaa A, Brauch H, Guénel P, Peto J, Fasching PA, Hopper J, Flesch-Janys D, Couch F, Chenevix-Trench G, Pharoah PD, Garcia-Closas M, Schmidt MK, Hall P, Easton DF, Chang-Claude J
Source: Genet Epidemiol, 2014 Jan;38(1), p. 84-93.
EPub date: 2013 Nov 18.
PMID: 24248812
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Tumour morphology predicts PALB2 germline mutation status.
Authors: Teo ZL, Provenzano E, Dite GS, Park DJ, Apicella C, Sawyer SD, James PA, Mitchell G, Trainer AH, Lindeman GJ, Shackleton K, Cicciarelli L, kConFab, Buys SS, Andrulis IL, Mulligan AM, Glendon G, John EM, Terry MB, Daly M, Odefrey FA, Nguyen-Dumont T, Giles GG, Dowty JG, Winship I, Goldgar DE, Hopper JL, Southey MC
Source: Br J Cancer, 2013 Jul 9;109(1), p. 154-63.
EPub date: 2013 Jun 20.
PMID: 23787919
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Using SNP genotypes to improve the discrimination of a simple breast cancer risk prediction model.
Authors: Dite GS, Mahmoodi M, Bickerstaffe A, Hammet F, Macinnis RJ, Tsimiklis H, Dowty JG, Apicella C, Phillips KA, Giles GG, Southey MC, Hopper JL
Source: Breast Cancer Res Treat, 2013 Jun;139(3), p. 887-96.
EPub date: 2013 Jun 18.
PMID: 23774992
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Evidence of gene-environment interactions between common breast cancer susceptibility loci and established environmental risk factors.
Authors: Nickels S, Truong T, Hein R, Stevens K, Buck K, Behrens S, Eilber U, Schmidt M, Häberle L, Vrieling A, Gaudet M, Figueroa J, Schoof N, Spurdle AB, Rudolph A, Fasching PA, Hopper JL, Makalic E, Schmidt DF, Southey MC, Beckmann MW, Ekici AB, Fletcher O, Gibson L, Silva Idos S, Peto J, Humphreys MK, Wang J, Cordina-Duverger E, Menegaux F, Nordestgaard BG, Bojesen SE, Lanng C, Anton-Culver H, Ziogas A, Bernstein L, Clarke CA, Brenner H, Müller H, Arndt V, Stegmaier C, Brauch H, Brüning T, Harth V, Genica Network, Mannermaa A, Kataja V, Kosma VM, Hartikainen JM, kConFab, AOCS Management Group, Lambrechts D, Smeets D, Neven P, Paridaens R, Flesch-Janys D, Obi N, Wang-Gohrke S, Couch FJ, Olson JE, Vachon CM, Giles GG, Severi G, Baglietto L, Offit K, John EM, Miron A, Andrulis IL, Knight JA, Glendon G, Mulligan AM, Chanock SJ, Lissowska J, Liu J, Cox A, Cramp H, Connley D, Balasubramanian S, Dunning AM, Shah M, Trentham-Dietz A, Newcomb P, Titus L, Egan K, Cahoon EK, Rajaraman P, Sigurdson AJ, Doody MM, Guénel P, Pharoah PD, Schmidt MK, Hall P, Easton DF, Garcia-Closas M, Milne RL, Chang-Claude J
Source: PLoS Genet, 2013;9(3), p. e1003284.
EPub date: 2013 Mar 27.
PMID: 23544014
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