|Grant Number:||3U01CA069631-15S1 Interpret this number|
|Primary Investigator:||Daly, Mary|
|Organization:||Fox Chase Cancer Center|
|Project Title:||Philadelphia Breast Cancer Family Registry|
DESCRIPTION (provided by applicant): The Philadelphia Breast Cancer Family Registry is a clinic-based family registry, one of six international collaborating Cancer Family Registry (CFR) sites sponsored by the National Cancer Institute (NCI). The overall objective is to maintain, enhance and exploit the research potential of the B-CFR for use by interdisciplinary teams of researchers. Led by Mary B. Daly, M.D., Ph.D., Director of Cancer Prevention and Control at the Fox Chase Cancer Center (FCCC), the Philadelphia B-CFR has focused its early efforts on recruiting families who met the eligibility criteria for familial/hereditary breast/ovarian cancer. Genotyping for BRCA1 and BRCA2 mutations has been performed through the Clinical Genetics Laboratory directed by Dr. Andrew Godwin. In collaboration with Dr. Generosa Grana at Cooper University Hospital in Camden, NJ, we also extended recruitment, genetic counseling and testing to a cohort of minority families. We focused on a thorough documentation and review of pathology samples from affected family members. A rich resource of blood and tumor specimens has been collected and stored at Coriell Cell Repositories under the direction of Dr. Jeanne Beck. As a result of these efforts, we have assembled a cohort of highly motivated families, well characterized in terms of family and medical history and risk factor exposures, for use by the international community to conduct research. As one of the three clinic-based sites, we are in a strong position to translate the findings of the scientific community to the clinical setting and to the families who have become our partners in this research. In the next funding period, we plan to build on these accomplishments with a focus on our research agenda and the strengthening of platforms to accomplish our next generation of goals. Our specific aims are to: continue to conduct targeted recruitment of early onset, minority and mutation carrier families; coordinate a thorough effort to obtain standardized follow-up data on all participants; enhance the value of the Biospecimen Repository with renewable cell lines and tissue microarrays; continue to take an active role in all of the B-CFR working groups and newly defined platforms, and most importantly, utilize the resources of the B-CFR to address important research questions about familial and non-familial breast cancer. The Philadelphia B-CFR will take the lead in developing the Behavioral and Survivorship Platform to facilitate research in these areas for both CFRs as well as outside investigators. Public Health Significance: The B-CFR sites have formed a research partnership with over 14,000 families to speed discovery in the prevention, early detection and treatment of familial breast cancer. Through our continued partnership, we hope to understand the pathways of breast cancer risk and ultimately reduce that risk for all women.
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.
Oral contraceptive and reproductive risk factors for ovarian cancer within sisters in the breast cancer family registry.
Authors: Ferris JS, Daly MB, Buys SS, Genkinger JM, Liao Y, Terry MB
Source: Br J Cancer, 2014 Feb 18;110(4), p. 1074-80.
EPub date: 2014 Jan 7.
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.
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.
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.
Genome-wide association study in BRCA1 mutation carriers identifies novel loci associated with breast and ovarian cancer risk.
Authors: Couch FJ, Wang X, McGuffog L, Lee A, Olswold C, Kuchenbaecker KB, Soucy P, Fredericksen Z, Barrowdale D, Dennis J, Gaudet MM, Dicks E, Kosel M, Healey S, Sinilnikova OM, Lee A, Bacot F, Vincent D, Hogervorst FB, Peock S, Stoppa-Lyonnet D, Jakubowska A, kConFab Investigators, Radice P, Schmutzler RK, SWE-BRCA, Domchek SM, Piedmonte M, Singer CF, Friedman E, Thomassen M, Ontario Cancer Genetics Network, Hansen TV, Neuhausen SL, Szabo CI, Blanco I, Greene MH, Karlan BY, Garber J, Phelan CM, Weitzel JN, Montagna M, Olah E, Andrulis IL, Godwin AK, Yannoukakos D, Goldgar DE, Caldes T, Nevanlinna H, Osorio A, Terry MB, Daly MB, van Rensburg EJ, Hamann U, Ramus SJ, Toland AE, Caligo MA, Olopade OI, Tung N, Claes K, Beattie MS, Southey MC, Imyanitov EN, Tischkowitz M, Janavicius R, John EM, Kwong A, Diez O, Balmaña J, Barkardottir RB, Arun BK, Rennert G, Teo SH, Ganz PA, Campbell I, van der Hout AH, van Deurzen CH, Seynaeve C, Gómez Garcia EB, van Leeuwen FE, Meijers-Heijboer HE, Gille JJ, Ausems MG, Blok MJ, Ligtenberg MJ, Rookus MA, Devilee P, Verhoef S, van Os TA, Wijnen JT, HEBON, EMBRACE, Frost D, Ellis S, Fineberg E, Platte R, Evans DG, Izatt L, Eeles RA, Adlard J, Eccles DM, Cook J, Brewer C, Douglas F, Hodgson S, Morrison PJ, Side LE, Donaldson A, Houghton C, Rogers MT, Dorkins H, Eason J, Gregory H, McCann E, Murray A, Calender A, Hardouin A, Berthet P, Delnatte C, Nogues C, Lasset C, Houdayer C, Leroux D, Rouleau E, Prieur F, Damiola F, Sobol H, Coupier I, Venat-Bouvet L, Castera L, Gauthier-Villars M, Léoné M, Pujol P, Mazoyer S, Bignon YJ, GEMO Study Collaborators, Z?owocka-Per?owska E, Gronwald J, Lubinski J, Durda K, Jaworska K, Huzarski T, Spurdle AB, Viel A, Peissel B, Bonanni B, Melloni G, Ottini L, Papi L, Varesco L, Tibiletti MG, Peterlongo P, Volorio S, Manoukian S, Pensotti V, Arnold N, Engel C, Deissler H, Gadzicki D, Gehrig A, Kast K, Rhiem K, Meindl A, Niederacher D, Ditsch N, Plendl H, Preisler-Adams S, Engert S, Sutter C, Varon-Mateeva R, Wappenschmidt B, Weber BH, Arver B, Stenmark-Askmalm M, Loman N, Rosenquist R, Einbeigi Z, Nathanson KL, Rebbeck TR, Blank SV, Cohn DE, Rodriguez GC, Small L, Friedlander M, Bae-Jump VL, Fink-Retter A, Rappaport C, Gschwantler-Kaulich D, Pfeiler G, Tea MK, Lindor NM, Kaufman B, Shimon Paluch S, Laitman Y, Skytte AB, Gerdes AM, Pedersen IS, Moeller ST, Kruse TA, Jensen UB, Vijai J, Sarrel K, Robson M, Kauff N, Mulligan AM, Glendon G, Ozcelik H, Ejlertsen B, Nielsen FC, Jønson L, Andersen MK, Ding YC, Steele L, Foretova L, Teulé A, Lazaro C, Brunet J, Pujana MA, Mai PL, Loud JT, Walsh C, Lester J, Orsulic S, Narod SA, Herzog J, Sand SR, Tognazzo S, Agata S, Vaszko T, Weaver J, Stavropoulou AV, Buys SS, Romero A, de la Hoya M, Aittomäki K, Muranen TA, Duran M, Chung WK, Lasa A, Dorfling CM, Miron A, BCFR, Benitez J, Senter L, Huo D, Chan SB, Sokolenko AP, Chiquette J, Tihomirova L, Friebel TM, Agnarsson BA, Lu KH, Lejbkowicz F, James PA, Hall P, Dunning AM, Tessier D, Cunningham J, Slager SL, Wang C, Hart S, Stevens K, Simard J, Pastinen T, Pankratz VS, Offit K, Easton DF, Chenevix-Trench G, Antoniou AC, CIMBA
Source: PLoS Genet, 2013;9(3), p. e1003212.
EPub date: 2013 Mar 27.
Risk of pancreatic cancer in breast cancer families from the breast cancer family registry.
Authors: Mocci E, Milne RL, Méndez-Villamil EY, Hopper JL, John EM, Andrulis IL, Chung WK, Daly M, Buys SS, Malats N, Goldgar DE
Source: Cancer Epidemiol Biomarkers Prev, 2013 May;22(5), p. 803-11.
EPub date: 2013 Mar 1.
Whole exome sequencing suggests much of non-BRCA1/BRCA2 familial breast cancer is due to moderate and low penetrance susceptibility alleles.
Authors: Gracia-Aznarez FJ, Fernandez V, Pita G, Peterlongo P, Dominguez O, de la Hoya M, Duran M, Osorio A, Moreno L, Gonzalez-Neira A, Rosa-Rosa JM, Sinilnikova O, Mazoyer S, Hopper J, Lazaro C, Southey M, Odefrey F, Manoukian S, Catucci I, Caldes T, Lynch HT, Hilbers FS, van Asperen CJ, Vasen HF, Goldgar D, Radice P, Devilee P, Benitez J
Source: PLoS One, 2013;8(2), p. e55681.
EPub date: 2013 Feb 8.
Total energy intake and breast cancer risk in sisters: the Breast Cancer Family Registry.
Authors: Zhang FF, John EM, Knight JA, Kaur M, Daly M, Buys S, Andrulis IL, Stearman B, West D, Terry MB
Source: Breast Cancer Res Treat, 2013 Jan;137(2), p. 541-51.
EPub date: 2012 Dec 6.
Evaluation of chromosome 6p22 as a breast cancer risk modifier locus in a follow-up study of BRCA2 mutation carriers.
Authors: Stevens KN, Wang X, Fredericksen Z, Pankratz VS, Greene MH, Andrulis IL, Thomassen M, Caligo M, Swedish Breast Cancer Study, Sweden (SWE-BRCA), Nathanson KL, Jakubowska A, Osorio A, Hamann U, Godwin AK, Stoppa-Lyonnet D, Southey M, Buys SS, Singer CF, Hansen TV, Arason A, Offit K, Piedmonte M, Montagna M, Imyanitov E, Tihomirova L, Sucheston L, Beattie M, HEreditary Breast and Ovarian Cancer Group Netherlands (HEBON), German Consortium for Hereditary Breast and Ovarian Cancer (GC-HBOC), Neuhausen SL, CONsorzio Studi ITaliani sui Tumori Ereditari Alla Mammella (CONSIT Team), Szabo CI, kConFab, Simard J, Spurdle AB, Healey S, Chen X, Rebbeck TR, Easton DF, Chenevix-Trench G, Antoniou AC, Couch FJ
Source: Breast Cancer Res Treat, 2012 Nov;136(1), p. 295-302.
EPub date: 2012 Sep 26.