Breast and Colon Cancer Family Registries

In Press/Accepted

• Argos M, Kibriya MG, Jasmine F, Hibshoosh H, Ahsan H. Genome-wide LOH scan of breast cancer using high density SNP array. Cancer Genet Cytogenet (Accepted).

2008

• Garner CP, Ding YC, John EM, Ingles SA, Olopade OI, Huo D, Adebamowo C, Ogundiran T, Neuhausen SL. Genetic variation in IGFBP2 and IGFBP5 is associated with breast cancer in populations of African descent. Hum Genet 2008 Apr;123(3):247-55.
• Onay UV, Aaltonen K, Briollais L, Knight JA, Pabalan N, Kilpivaara O, Andrulis IL, Blomqvist C, Nevanlinna H, Ozcelik H. Combined effect of CCND1 and COMT polymorphisms and increased breast cancer risk. BMC Cancer 2008 Jan 14;8:6.

2007

• Apicella C, Dowty JG, Dite GS, Jenkins MA, Senie R, Daly MB, Andrulis IL, John EM, Buys SS, Li FD, Glendon G, Ozcelik H, Miron A, Kotar K, Southey MC, Foulkes W, Hopper JL. Validation study of the LAMBDA model for predicting the BRCA1 or BRCA2 mutation carrier status of North American Ashkenazi Jewish Women. Clin Genet 2007 Aug;72:87-97.
• Bane AL, Beck JC, Bleiweiss I, Buys SS, Catalano E, Daly MB, Giles G, Godwin AK, Hisbshoosh H, Hopper JL, John EM, Layfield L, Longacre T, Miron A, Senie R, Southey MC, West DW, Whittemore AS, Wu H, Andrulis IL, O’Malley FP. BRCA2 mutation-associated breast cancers exhibit a distinguishing phenotype based on morphology and molecular profiles from tissue microarrays. Am J Surg Pathol 2007;31(1):121-8.
• Breast Cancer Family Registry; Kathleen Cuningham Consortium for Research into Familial Breast Cancer (Australasia); Ontario Cancer Genetics Network (Canada). Smoking and risk of breast cancer in carriers of mutations in BRCA1 or BRCA2 aged less than 50 years. Breast Cancer Res Treat 2007 Oct 31 [Epub ahead of print].
• Briollais L, Wang Y, Rajendram I, Onay V, Shi E, Knight J, Ozcelik H. Methodological issues in detecting gene-gene interactions in breast cancer susceptibility: a population-based study in Ontario. BMC Med 2007 Aug;7:5-22.
• Chenevix-Trench G, Milne RL, Antoniou AC, Couch FJ, Easton DF, Goldgar DE; CIMBA. An international initiative to identify genetic modifiers of cancer risk in BRCA1 and BRCA2 mutation carriers: the Consortium of Investigators of Modifiers of BRCA1 and BRCA2 (CIMBA). Breast Cancer Res 2007;9(2):104.
• Cox A, Dunning AM, Garcia-Closas M, Balasubramanian S, Reed MWR, Pooley KA, Scollen S, Baynes C, Ponder BAJ, Chanock S, Lissowska J, Brinton L, Peplonska B, Southey MC, Hopper JL, McCredie MRE, Giles GG, Fletcher O, Johnson N, Santos Silva I, Gibson L, Bojesen S, Nordestgaard B, Axelsson C, Torres D, Hamann U, Justenhoven C, Brauch H, Chang-Claude J, Kropp S, Risch A, Wang-Gohrke S, Schurmann P, Bogdanova N, Dork T, Fagerholm R, Aaltonen K, Blomqvist C, Nevanlinna H, Seal S, Renwick A, Stratton M, Rahman N, Sangrajrang S, Hughes D, Odefrey F, Brennan P, Spurdle A, Chenevix-Trench G, The Kathleen Cunningham Foundation Consortium for Research into Familial Breast Cancer, Beesley J, Mannermaa A, Hartikainen J, Kataja V, Kosma V, Couch F, Olson J, Goode E, Broeks A, Schmidt M, Hogervorst F, Hall P, Low Y, Liu J, Milne R, Ribas G, Gonzalez-Neira A, Benitez J, Sigurdson A, Stredrick D, Alexander B, Struewing J, Pharoah P, Easton D, on behalf of the Breast Cancer Association Consortium. A common coding variant in CASP8 is associated with breast cancer risk. Nat Genet 2007 Mar;39(3):352-8. Epub 2007 Feb 11.
• Easton DF, Pooley KA, Dunning AM, Pharoah PD, Thompson D, Ballinger DG, Struewing JP, Morrison J, Field H, Luben R, Wareham N, Ahmed S, Healey CS, Bowman R; SEARCH collaborators, Meyer KB, Haiman CA, Kolonel LK, Henderson BE, Le Marchand L, Brennan P, Sangrajrang S, Gaborieau V, Odefrey F, Shen CY, Wu PE, Wang HC, Eccles D, Evans DG, Peto J, Fletcher O, Johnson N, Seal S, Stratton MR, Rahman N, Chenevix-Trench G, Bojesen SE, Nordestgaard BG, Axelsson CK, Garcia-Closas M, Brinton L, Chanock S, Lissowska J, Peplonska B, Nevanlinna H, Fagerholm R, Eerola H, Kang D, Yoo KY, Noh DY, Ahn SH, Hunter DJ, Hankinson SE, Cox DG, Hall P, Wedren S, Liu J, Low YL, Bogdanova N, Schürmann P, Dörk T, Tollenaar RA, Jacobi CE, Devilee P, Klijn JG, Sigurdson AJ, Doody MM, Alexander BH, Zhang J, Cox A, Brock IW, MacPherson G, Reed MW, Couch FJ, Goode EL, Olson JE, Meijers-Heijboer H, van den Ouweland A, Uitterlinden A, Rivadeneira F, Milne RL, Ribas G, Gonzalez-Neira A, Benitez J, Hopper JL, McCredie M, Southey M, Giles GG, Schroen C, Justenhoven C, Brauch H, Hamann U, Ko YD, Spurdle AB, Beesley J, Chen X; kConFab; AOCS Management Group, Mannermaa A, Kosma VM, Kataja V, Hartikainen J, Day NE, Cox DR, Ponder BA. Genome-wide association study identifies novel breast cancer susceptibility loci. Nature 2007 Jun;28:447(7148):1087-93.
• Figueiredo JC, Ennis M, Knight JA, McLaughlin JR, Hood N, O'Malley F, Andrulis IL, Goodwin PJ. Influence of young age at diagnosis and family history of breast or ovarian cancer on breast cancer outcomes in a population-based cohort study. Breast Cancer Res Treat 2007;Sep;105(1):69-80.
• Figueiredo JC, Knight JA, Cho S, Savas S, Onay UV, Briollais L, Goodwin PJ, McLaughlin JR, Andrulis IL, Ozcelik H. Polymorphisms cMyc-N11S and p27-V109G and breast cancer risk and prognosis. BMC Cancer 2007;Jun 14;7:99.
• Hammet F, George J, Tesoriero AA, Jenkins MA, Schroen C, Smith L, Grabosch-Meehan A, Dite G, McCredie MR, Giles GG, Tavtigian SV, Hopper JL, Southey MC. Is BRCA2 c.9079 G > A a predisposing variant for early onset breast cancer? Breast Cancer Res Treat 2007 Jun 5 [Epub ahead of print].
• Hong AL, Huo D, Kim HJ, Niu Q, Fackenthal DL, Cummings SA, John EM, West DW, Whittemore AS, Das S,Olopade OI. UDP-Glucuronosyltransferase 1A1 gene polymorphisms and total bilirubin levels in an ethnically diverse cohort of women. Drug Metab Dispos 2007 Aug;35(8):1254-61. Epub 2007 May 3.
• Huggins CJ, Gill M, Andrulis IL. Identification of rare variants in the hLIMD1 gene in breast cancer. Cancer Genet Cytogenet 2007 Oct 1;178(1):36-41.
• Huo D, Kim HJ, Adebamowo CA, Ogundiran TO, Akang EE, Campbell O, Adenipekun A, Niu Q, Sveen L, Fackenthal JD, Fackenthal DL, Das S, Cox N, Rienzo AD, Olopade OI. Genetic polymorphisms in uridine diphospho-glucuronosyltransferase 1A1 and breast cancer risk in Africans. Breast Cancer Res Treat 2007 Oct 2 [Epub ahead of print].
• John EM, Miron A, Gong G, Phipps AI, Felberg A, Li FP, West DW, Whittemore AS. Prevalence of pathogenic BRCA1 mutation carriers in 5 US racial/ethnic groups. JAMA 2007 Dec 26;298.
• John EM, Phipps AI, Knight JA, Milne RL, Dite GS, Hopper JL, Andrulis IL, Southey M, Giles GG, West DW, Whittemore AS. Medical radiation exposure and breast cancer risk: Findings from the Breast Cancer Family Registry. Int J Cancer 2007 Jul 15;121(2):386-94.
• Johnatty SE, Spurdle AB, Beesley J, Chen X, Hopper JL, Duffy DL, Chenevix-Trench G; The Kathleen Cuningham Consortium for Research in Familial Breast Cancer. Progesterone receptor polymorphisms and risk of breast cancer: results from two Australian breast cancer studies. Breast Cancer Res Treat 2007 Jun 26 [Epub ahead of print].
• Smith LD, Tesoriero AA, Ramus SJ, Dite G, Royce SG, Giles GG, McCredie MRE, Hopper JL, Southey MC. BRCA1 promoter deletions in young women with breast cancer and a strong family history: a population based study. Eur J Cancer 2007 Mar;43(5):823-7. Epub 2007 Feb 21.
• Spurdle AB, Chang JH, Byrnes GB, Chen X, Dite GS, McCredie MR, Giles GG, Southey MC, Chenevix-Trench G, Hopper JL. A systematic approach to analysing gene-gene interactions: polymorphisms at the microsomal epoxide hydrolase EPHX and glutathione S-transferase GSTM1, GSTT1, and GSTP1 loci and breast cancer risk. Cancer Epidemiol Biomarkers Prev 2007;Apr;16(4):769-74.
• Terry MB, Knight JA, Zablotska L, Wang Q, John EM, Andrulis IL, Senie RT, Daly M, Ozcelik H, Briollais L, Santella RM. Alcohol metabolism, alcohol intake, and breast cancer risk: a sister-set analysis using the Breast Cancer Family Registry. Breast Cancer Res Treat 2007 Dec;106(2):281-8.
• Winter SL, Bosnoyan-Collins L, Pinnaduwage D, Andrulis IL. The interaction of PP1 with BRCA1 and analysis of their expression in breast tumors. BMC Cancer 2007 May 19;7:85.
• Wong EM, Tesoriero AA, Pupo GM; kConFab; ABCFS, McCredie MR, Giles GG, Hopper JL, Mann GJ, Goldgar DE, Southey MC. Is MSH2 a breast cancer susceptibility gene? Fam Cancer 2007 Oct 6 [Epub ahead of print].

2006

• Apicella C, Peacock SJ, Andrews L, Tucker K, Bankier A, Daly MB, Hopper JL. Determinants of preferences for genetic counseling in Jewish women. Fam Cancer 2006;5(2):159-67.
• Bernstein JL, Teraoka S, Southey MC, Jenkins MA, Andrulis IL, Knight JA, John EM, Lapinski RH, Wolitzer AL, Whittemore AS, West DW, Seminara D, Olson ER, Spurdle AB, Chenevix-Trench G, Giles GG, Hopper JL, Concannon P. Population-based estimates of breast cancer risks associated with ATM gene variants c.T7271T>G and c.1066-6T>G (IVS10-6T>G) from the Breast Cancer Family Registry. Human Mutation 2006;27(11):1122-8.
• Bernstein JL, Teraoka SN, John EM, Andrulis IL, Knight JA, Lapinski R, Olson ER, Wolitzer AL, Seminara D, Whittemore AS, Concannon P. The CHEK 2*1100delC allelic variant and risk of breast cancer: screening results from the Breast Cancer Family Registry. Cancer Epidemiol Biomarkers Prev 2006 Feb;15(2):348-52.
• Breast Cancer Association Consortium. Commonly studied single-nucleotide polymorphisms and breast cancer: results from the Breast Cancer Association Consortium. JNCI 2006 Oct;98(19):1382-96.
• Chenevix-Trench G, Healey S, Lakhani S, Waring P, Cummings M, Brinkworth R, Deffenbaugh AM, Burbidge LA, Pruss D, Judkins T, Scholl T, Bekessy A, Marsh A, Lovelock P, Wong M, Tesoriero A, Renard H, Southey M, Hopper JL, Yannoukakos K, Brown M, Easton D, Tavtigian SV, Goldgar D, Spurdle AB, kConFab Investigators. Genetic and histopathologic evaluation of BRCA1 and BRCA2 DNA sequence variants of unknown clinical significance. Cancer Res 2006 Feb;15;66(4):2019-27.
• Gomez SL, Glaser SL. Misclassification of race/ethnicity in a population-based cancer registry (United States). Cancer Causes Control 2006 Aug;17(6):771-81.
• Haile RW, Thomas DC, McGuire B, Felberg A, John EM, Milne RL, Hopper JL, Jenkins MA, Levine AJ, Daly MM, Buys SS, Senie RM, Andrulis IL, Knight JA, Godwin AK, Southey M, McCredie MRE, Giles GG, Andrews L, Tucker K, Miron A, Apicella C, Tesoriero A, Pike MC, kConFab Investigators, Whittemore AS. BRCA1 and BRCA2 mutation carriers, oral contraceptive use, and breast cancer before age 50. Cancer Epidemiol Biomarkers Prev 2006 Oct;15(10):1863-70. Epub 2006 Oct. 4.
• Jarjanazi H, Li H, Andrulis IL, and Ozcelik H. Genome wide screening of CAG trinucleotide repeat lengths in breast cancer. Dis Markers 2006;22(5-6):343-9.
• Knight JA, John EM, Milne RL, Dite GS, Balbuena R, Shi EJ, Giles GG, Ziogas A, Andrulis IL, Whittemore AS, Hopper JL; Breast Cancer Family Registry. An inverse association between ovarian cysts and breast cancer in the Breast Cancer Family Registry. Int J Cancer 2006 Jan 1;118(1):197-202.
• Lee JS, John EM, McGuire V, Felberg A, Ostrow KL, DiCioccio RA, Li FP, Miron A, West DW, Whittemore AS. Breast and ovarian cancer in relatives of cancer patients, with and without BRCA1 and BRCA2 mutations. Cancer Epidemiol Biomarkers Prev 2006 Feb;15(2):359-63.
• Longacre TA, Ennis M, Quenneville LA, Bane AL, Bleiweiss IJ, Carter BA, Catelano E, Hendrickson MR, Hibshoosh H, Layfield LJ, Memeo L, Wu H, O'malley FP. Interobserver agreement and reproducibility in classification of invasive breast carcinoma: an NCI breast cancer family registry study. Mod Pathol 2006 Feb;19(2):195-207.
• McGuire V, John EM, Felberg A, Haile RW, Boyd NF, Thomas DC, Jenkins MA, Milne RL, Daly MB, Ward J, Terry MB, Andrulis IL, Knight JA, Godwin AK, Giles GG, Southey M, West DW, Hopper JL, Whittemore AS, kConFab Investigators. No increased risk of breast cancer associated with alcohol consumption among carriers of BRCA1 and BRCA2 mutations ages <50 years. Cancer Epidemiol Biomarkers Prev 2006 Aug;15(8):1565-7.
• Onay VU, Briollais L, Knight JA, Shi E, Wang Y, Wells S, Li H, Rajendram I, Andrulis IL, Ozcelik H. SNP-SNP Interactions in Breast Cancer Susceptibility. BMC Cancer 2006 May 3;6:114.
• Peacock S, Apicella C, Andrews L, Tucker K, Bankier A, Daly MB, Hopper JL. A discrete choice experiment of preferences for genetic counselling among Jewish women seeking cancer genetics services. Br J Cancer 2006 Nov 20;95(10):1448-53.
• Price GR, Armes JE, Ramus SJ, Provenzano E, Kumar B, Cowie TF, Ciciulla J, Hutchins AM, Thomas M, Venter DJ. Phenotype-directed analysis of genotype in early-onset, familial breast cancers. Pathology 2006 Dec;38(6):520-7.
• Savas S, Schmidt S, Jarjanazi H, Ozcelik H. Functional nsSNPs from carcinogenesis-related genes expressed in breast tissue: potential breast cancer risk alleles and their distribution across human populations. Hum Genomics 2006 Mar;2(5):287-96.
• Savas S, Tuzmen S, Ozcelik H. Human SNPs resulting in premature stop codons and protein truncation. Hum Genomics 2006 Mar;2(5):274-86.
• Shen J, Desai M, Agrawal M, Kennedy DO, Senie RT, Santella RM, Terry MB. Polymorphisms in nucleotide excision repair genes and DNA repair capacity phenotype in sisters discordant for breast cancer. Cancer Epidemiol Biomarkers Prev 2006 Sept;15(9):1614-9.
• Smith P, McGuffog L, Easton DF, Mann GJ, Pupo GM, Newman B, Chenevix-Trench G, kConFab Investigators, Szabo C, Southey M, Renard H, Odefrey F, Lynch H, Stoppa-Lyonnet D, Couch F, Hopper JL, Giles GG, McCredie MR, Buys S, Andrulis I, Senie R, BCFS, BRCAX Collaborators Group, Goldgar DE, Oldenburg R, Kroeze-Jansema K, Kraan J, Meijers-Heijboer H, Klijn JG, van Asperen C, van Leeuwen I, Vasen HFA, Cornelisse CJ, Devilee P, Baskcomb L, Seal S, Barfoot R, Mangion J, Hall A, Edkins S, Rapley E, Wooster R, Chang-Claude J, Eccles D, Evans DG, Futreal PA, Nathanson KL, Weber BL, Breast Cancer Susceptibility Collaboration (UK), Rahman N, Stratton MR. A genome wide linkage search for breast cancer susceptibility genes. Genes Chromosomes Cancer 2006 Jul;45(7):646-55.
• Spurdle AB, Antoniou AC, Duffy D, Kelemen L, Holland H, Peock S, Cook MR, Smith PL, Greene MH, Simard J, Plourde M, Southey M, Godwin A, Beck J, Miron A, Daly M, Santella R, Hopper J, John EM, Andrulis I, Durocher F, Struewing, JP, Easton DF, Chenevix-Trench G, Australian Breast Cancer Family Study, Australian Jewish Breast Cancer Study, Breast Cancer Family Registry, Interdisciplinary Health Research International Team on Breast Cancer Susceptibility, The Kathleen Cunningham Foundation Consortium for Research into Familial Breast Cancer, and Epidemiological Study of Familial Breast Cancer Study Collaborators. The AIB1 polyglutamine repeat does not modify breast cancer risk in BRCA1 and BRCA2 mutation carriers. Cancer Epidemiol Biomarkers Prev 2006 Jan;15(1):76-9.
• To MD, Gokgoz N, Doyle TG, Donoviel DB, Knight JA, Hyslop PS, Bernstein A, Andrulis IL. Functional characterization of novel presenilin-2 variants identified in human breast cancers. Oncogene 2006 July 15;25(25):3557-64.
• Turner-Cobb JM, Bloor LE, Whittemore AS, West D, Spiegel D. Disengagement and social support moderate distress among women with a family history of breast cancer. Breast J 2006 Jan-Feb;12(1):7-15.

2005

• Ahsan H, Whittemore AS, Chen Y, Senie RT, Hamilton SP, Wang Q, Gurvich I, Santella RM. Variants in estrogen-biosynthesis genes CYP17 and Cyp19 and breast cancer risk: a family-based genetic association study. Breast Cancer Res 2005;7(1):R71-81.
• Antoniou AC, Pharoah PD, Narod S, Risch HA, Eyfjord JE, Hopper JL, Olsson H, Johannsson O, Borg A, Pasini B, Radice P, Manoukian S, Eccles DM, Tang N, Olah E, Anton-Culver H, Warner E, Lubinski J, Gronwald J, Gorski B, Tulinius H, Thorlacius S, Eerola H, Nevanlinna H, Syrjakoski K, Kallioniemi OP, Thompson D, Evans C, Peto J, Lalloo F, Evans DG, Easton DF. Breast and ovarian cancer risks to carriers of the BRCA1 5382insC and 185delAG and BRCA2 6174delT mutations: a combined analysis of 22 population based studies. J Med Genet 2005 Jul;42(7):602-3.
• Burton PR, Tobin MD, Hopper JL. Key concepts in genetic epidemiology. The Lancet 2005;366:941-51.
• Chang JH, Gertig DM, Chen X, Dite GS, Jenkins MA, Milne RL, Southey MC, McCredie MR, Giles GG, Chenevix-Trench G, Hopper JL, Spurdle AB. CYP17 genetic polymorphism, breast cancer, and breast cancer risk factors: Australian Breast Cancer Family Study. Breast Cancer Res 2005;7(4):R513-21. Epub 2005 May 12.
• Gomez SL, Glaser SL. Quality of cancer registry birthplace data for Hispanics living in the United States. Cancer Causes Control 2005 Aug;16(6):713-23.
• Hopper JL, Bishop DT, Easton DF. Population-based family studies in genetic epidemiology. Lancet 2005 Oct 15-21;366(9494):1397-406. Review.
• Hopper JL, Hayes VM, Spurdle AB, Chenevix-Trench G, Jenkins MA, Milne RL, Dite GS, Tesoriero AA, McCredie MR, Giles GG, Southey MC. A protein-truncating mutation in CYP17A1 in three sisters with early-onset breast cancer. Hum Mutat 2005 Oct;26(4):298-302.
• Kennedy DO, Agrawal M, Shen J, Terry MB, Zhang FF, Senie RT, Motykiewicz G, Santella RM. DNA repair capacity of lymphoblastoid cell lines from sisters discordant for breast cancer. J Natl Cancer Inst 2005; 97(2):127-32.
• Kuschel B, Chenevix-Trench G, Spurdle AB, Chen X, Hopper JL, Giles GG, McCredie M, Chang-Claude J, Gregory CS, Day NE, Easton DF, Ponder BA, Dunning AM, Pharoah PD. Common polymorphisms in ERCC2 (Xeroderma pigmentosum D) are not associated with breast cancer risk. Cancer Epidemiol Biomarkers Prev 2005 Jul;14(7):1828-31.
• Loi S, Milne RL, Friedlander ML, McCredie MR, Giles GG, Hopper JL, Phillips KA. Obesity and outcomes in premenopausal and postmenopausal breast cancer. Cancer Epidemiol Biomarkers Prev 2005 Jul;14(7):1686-91.
• Milne RL, Knight JA, John EM, Dite GS, Balbuena R, Ziogas A, Andrulis IL, West DW, Li FP, Southey MC, Giles GG, McCredie MR, Hopper JL, Whittemore AS. Oral contraceptive use and risk of early-onset breast cancer in carriers and noncarriers of BRCA1 and BRCA2 mutations. Cancer Epidemiol Biomarkers Prev 2005 Feb;14(2):350-6.
• Montgomery KG, Chang JH, Gertig DM, Dite GS, McCredie MR, Giles GG, Southey MC, Hopper JL, Campbell IG. The AIB1 glutamine repeat polymorphism is not associated with risk of breast cancer before age 40 years in Australian women. Breast Cancer Res 2005;7(3):R353-6. Epub 2005 Mar 4.
• Phillips KA, Milne RL, Buys S, Friedlander ML, Ward JH, McCredie MR, Giles GG, Hopper JL. Agreement between self-reported breast cancer treatment and medical records in a population-based Breast Cancer Family Registry. J Clin Oncol 2005 Jul 20;23(21):4679-86. Epub 2005 Apr 25.
• Santella RM, Gammon M, Terry M, Senie RT, Shen J, Kennedy D, Agrawal M, Faraglia B, Zhang F. DNA adducts, DNA repair genotype/phenotype and cancer risk. Mutat Res 2005 Dec 30;592(1-2):29-35. Epub 2005 Jul 14.
• Sauer M, Andrulis IL. Identification and characterization of missense alterations in the BRCA1 associated RING domain (BARD1) gene in breast and ovarian cancers. J Med Genet 2005 Aug;42(8):633-8.
• Savas S, Ozcelik H. Phosphorylation states of cell cycle and DNA repair proteins can be altered by the nsSNPs. BMC Cancer 2005 Aug 19;5:107.
• Spurdle AB, Antoniou AC, Duffy DL, Pandeya N, Kelemen L, Chen X, Peock S, Cook MR, Smith PL, Purdie DM, Newman B, Dite GS, Apicella C, Southey MC, Giles GG, Hopper JL, Chenevix-Trench G, Easton DF, EMBRACE Study Collaborators. The androgen receptor CAG repeat polymorphism and modification of breast cancer risk in BRCA1 and BRCA2 mutation carriers. Breast Cancer Res 2005;7(2):R176-83.
• Tesoriero AA, Wong EM, Jenkins MA, Hopper JL, Brown MA, Chenevix-Trench G, Spurdle AB, Southey MC; kConFab. Molecular characterization and cancer risk associated with BRCA1 and BRCA2 splice site variants identified in multiple-case breast cancer families. Hum Mutat 2005 Nov;26(5):495.
• Thompson D, Marsh A, Chen X, Antoniou AC, Jenkins MA, Tierney W, Tesoriero A, Wassell N, Milne R, Spurdle A, Thorstenson Y, Southey M, Giles GG, kConFab Investigators, Khanna KK, Sambrook J, Oefner P, Goldgar D, Hopper JL, Easton D, Chenevix-Trench G; KConFab Investigators. Two ATM variants and breast cancer risk. Hum Mutat 2005 June;25(6):594-5.
• Webb PM, Hopper JL, Newman B, Chen X, Kelemen L, Giles GG, Southey MC, Chenevix-Trench G, Spurdle AB. Double strand break repair gene polymorphisms and risk of breast or ovarian cancer. Cancer Epidemiol Biomarkers Prev 2005;14(2):319-23.
• Whittemore AS. Genetic association studies: time for a new paradigm? Cancer Epidemiol Biomarkers Prev. 2005b;14:1359-60.
• Whittemore AS, Halpern J, Ahsan H. Covariate adjustment in family-based association studies. Genet Epidemiol 2005a;28:244-55.

2004

• Ahsan H, Chen Y, Whittemore AS, Kibriya MG, Gurvich I, Senie RT, Santella RM. A family-based genetic association study of variants in estrogen-metabolism genes COMT and CYP1B1 and breast cancer risk. Breast Cancer Res Treat 2004;85(2):121-31.
• Beral V, Bull D, Doll R, Peto R, Reeves G, Collaborative Group on Hormonal Factors in Breast Cancer. Breast cancer and abortion: collaborative reanalysis of data from 53 epidemiological studies, including 83,000 women with breast cancer from 16 countries. Lancet 2004;363(9414):1007-16.
• CHEK2 Breast Cancer Case-Control Consortium. CHEK2*1100delC and susceptibility to breast cancer: a collaborative analysis involving 10,860 breast cancer cases and 9,065 controls from 10 studies. Am J Hum Genet 2004;74(6):1175-82. Epub 2004 April 30.
• Esplen MJ, Hunter J, Leszcz M, Warner E, Narod S, Metcalfe K, Glendon G, Butler K, Liede A, Young MA, Kieffer S, DiProspero L, Irwin E, Wong J. A multicenter study of supportive-expressive group therapy for women with BRCA1/BRCA2 mutations. Cancer 2004;101(10):2327-40.
• Figueiredo JC, Knight JA, Briollais L, Andrulis IL, Ozcelik H. Polymorphisms XRCC1-R399Q and XRCC3-T241M and the risk of breast cancer at the Ontario site of the Breast Cancer Family Registry. Cancer Epidemiol Biomarkers Prev 2004;13(4):583-91.
• Frost CJ, Venne V, Cunningham D, Gerritsen-McKane R. Decision-making with uncertain information: learning from women in a high risk breast cancer clinic. J Genet Couns 2004;13(3):221-36.
• Gomez SL, Glaser SL. Quality of birthplace information obtained from death certificates for Hispanics, Asians, and Pacific Islanders. Ethn Dis 2004;14(2):292-5.
• John EM, Hopper JL, Beck JC, Knight JA, Neuhausen SL, Senie RT, Ziogas A, Andrulis IL, Anton-Culver H, Boyd N, Buys SS, Daly MB, O’Malley FP, Santella RM, Southey MC, Venne VL, Venter DJ, West DW, Whittemore AS, Seminara D. The Breast Cancer Family Registry (Breast CFR): an infrastructure for cooperative multinational, interdisciplinary and translational studies of the genetic epidemiology of breast cancer. Breast Cancer Res 2004;6(4):R375-89.
• Keogh L, Southey M, Maskiell J, Young M-A, Gaff C, Kirk J, Tucker K, Rosenthal D, McCredie MRE, Giles G, Hopper JL. Uptake of offer to receive genetic information about BRCA1 and BRCA2 mutations in a population-based study. Cancer Epidemiol Biomarkers Prev 2004;13:2258-63.
• Knight JA, Onay UV, Wells S, Li H, Shi EJ, Andrulis IL, Ozcelik H. Genetic variants of GPX1 and SOD2 and breast cancer risk at the Ontario site of the Breast Cancer Family Registry. Cancer Epidemiol Biomarkers Prev 2004;13(1):146-9.
• Mancuso C, Glendon G, Anson-Cartwright L, Shi EJQ, Andrulis IL, Knight J. Ethnicity, but not cancer family history, is related to response to a population-based mailed questionnaire. Ann Epidemiol 2004;14(1):36-43.
• Osborne RH, Elsworth GR, Sprangers MAG, Oort FJ, Hopper JL. The value of the Hospital Anxiety and Depression Scale (HADS) for comparing women with early onset breast cancer with population-based reference women. Qual Life Res 2004;13(1):191-206.
• Phillips KA, Milne RL, Friedlander ML, Jenkins MA, McCredie MR, Giles GG, Hopper JL. Prognosis of premenopausal breast cancer and childbirth prior to diagnosis. J Clin Oncol 2004;22(4):699-705.
• Provenzano E, Hopper JL, Giles GG, Marr G, Venter DJ, Armes JE. Histological markers that predict clinical recurrence in ductal carcinoma in situ of the breast: an Australian population-based study. Pathology 2004;36(3):221-9.
• Segal J, Esplen MJ, Toner B, Baedorf S, Narod S, Butler K. An investigation of the disclosure process and support needs of BRCA1 and BRCA2 carriers. Am J Med Genet 2004;125A(3):267-72.
• Szabo CI, Schutte M, Broeks A, Houwing-Duistermaat JJ, Thorstenson YR, Durocher F, Oldenburg RA, Wasielewski M, Odefrey F, Thompson D, Floore AN, Kraan J, Klijn JG, van den Ouweland AM, Wagner TM, Devilee P, Simard J, van ’t Veer LJ, Goldgar DE, Meijers-Heijboer H. Are ATM mutations 7271T–>G and IVS10-6T–>G really high-risk breast cancer-susceptibility alleles? Cancer Res 2004;64(3):840-3.
• Whittemore AS. Estimating genetic association parameters from family data. Biometrika 2004;91:219-25.
• Whittemore AS, Balise RR, Pharoah PD, Dicioccio RA, Oakley-Girvan I, Ramus SJ, Daly M, Usinowicz MB, Garlinghouse-Jones K, Ponder BA, Buys S, Senie RT, Andrulis I, John E, Hopper JL, Piver MS. Oral contraceptive use and ovarian cancer risk among carriers of BRCA1 or BRCA2 mutations. Br J Cancer 2004;91(11):1911-5.
• Whittemore AS, Gong G, John EM, McGuire V, Li FP, Ostrow KL, Dicioccio R, Felberg A, West DW. Prevalence of BRCA1 mutation carriers among U.S. non-Hispanic whites. Cancer Epidemiol Biomarkers Prev 2004;13(12):2078-83.
• Yang WL, Godwin AK, Xu XX. Tumor necrosis factor-alpha-induced matrix proteolytic enzyme production and basement membrane remodeling by human ovarian surface epithelial cells: Molecular basis linking ovulation and cancer risk. Cancer Res 2004;64(4):1534-40.
• Yu K, Martina RB, Whittemore AS. Classifying disease chromosomes arising from multiple founders, with application to fine-scale haplotype mapping. Genet Epidemiol 2004;27:173-81.

2003

• Ahsan H. Placental genes and breast cancer: can the offspring's or father's genotypes predict mother's risk? Epidemiology 2003;14(2):251-3.
• Ahsan H, Rundle AG. Measures of genotype versus gene products: promise and pitfalls in cancer prevention. Carcinogenesis 2003;24(9):1429-34.
• Antoniou A, Pharoah PDP, Narod S, Risch HA, Eyfjord JE, Hopper JL, Loman N, Olsson H, Johannsson O, Borg A, Pasini B, Radice P, Manoukian S, Eccles D, Tang N, Olah E, Anton-Culver H, Warner E, Lubinski J, Gronwald J, Gorski B, Tulinius H, Thorlacius S, Eerola H, Nevanlinna H, Syrjakoski K, Kallioniemi OP, Thompson D, Evans C, Peto J, Lalloo F, Evans DG, Easton DF. Average risks of breast and ovarian cancer associated with mutations in BRCA1 and BRCA2 detected in case series unselected for family history: a combined analysis of 22 studies. Am J Hum Gen 2003 May;72(5):1117-30.
• Apicella C, Andrews L, Hodgson SV, Fisher SA, Lewis CM, Solomon E, Tucker K, Friedlander M, Bankier A, Southey MC, Venter DJ, Hopper JL. Log odds of carrying an ancestral mutation in BRCA1 or BRCA2 for a defined personal and family history in an Ashkenazi Jewish woman (LAMBDA). Breast Cancer Res 2003;5(6):R206-16.
• Auranen A, Spurdle AB, Chen X, Lipscombe J, Purdie DM, Hopper JL, Green A, Healey CS, Redman K, Dunning AM, Pharoah PD, Easton DF, Ponder BA, Chenevix-Trench G, Novik KL. BRCA2 Arg372Hispolymorphism and epithelial ovarian cancer risk. Int J Cancer 2003 Jan 20;103(3):427-30. Erratum in: Int J Cancer 2003 May 10;104(6):799.
• Burrows JF, Chanduloy S, McIlhatton MA, Nagar H, Yeates K, Donaghy P, Price J, Godwin AK, Johnston PG, Russell SE. Altered expression of the septin gene, SEPT9, in ovarian neoplasia. J Pathol 2003;201(4):581-8.
• Capo-chichi CD, Roland IH, Vanderveer L, Bao R, Yamagata T, Hirai H, Cohen C, Hamilton TC, Godwin AK, Xu XX. Anomalous expression of epithelial differentiation-determining GATA factors in ovarian tumorigenesis. Cancer Res 2003;63(16):4967-77.
• Cesari R, Martin ES, Calin GA, Pentimalli F, Bichi R, McAdams H, Trapasso F, Drusco A, Shimizu M, Masciullo V, D'Andrilli G, Scambia G, Picchio MC, Alder H, Godwin AK, Croce CM. Parkin, a gene implicated in autosomal recessive juvenile parkinsonism, is a candidate tumor suppressor gene on chromosome 6q25-q27. Proc Natl Acad Sci U S A 2003;100(10):5956-61.
• Cui JS, Spurdle AB, Southey MC, Dite GS, Venter DJ, McCredie MR, Giles GG, Chenevix-Trench G, Hopper JL. Regressive logistic and proportional hazards disease models for within-family analyses of measured genotypes, with application to a CYP17 polymorphism and breast cancer. Genet Epidemiol 2003;24(3):161-72.
• Dite GS, Jenkins MA, Southey MC, Hocking JS, Giles GG, McCredie MR, Venter DJ, Hopper JL. Familial risks, early-onset breast cancer, and BRCA1 and BRCA2 germline mutations. J Natl Cancer Inst 2003;95(6):448-57.
• Dong Y, Hakimi MA, Chen X, Kumaraswamy E, Cooch NS, Godwin AK, Shiekhattar R. Regulation of BRCC, a holoenzyme complex containing BRCA1 and BRCA2, by a signalosome-like subunit and its role in DNA repair. Mol Cell 2003;12(5):1087-99.
• Frolov A, Chahwan S, Ochs M, Arnoletti JP, Pan ZZ, Favorova O, Fletcher J, von Mehren M, Eisenberg B, Godwin AK. Response markers and the molecular mechanisms of action of Gleevec in gastrointestinal stromal tumors. Mol Cancer Ther 2003;2(8):699-709.
• Gong G, Whittemore AS. Optimal designs for estimating penetrance of rare mutations of a disease-susceptibility gene. Genet Epidemiol 2003;24(3):173-80.
• Gupta A, Godwin AK, Vanderveer L, Lu A, Liu J. Hypomethylation of the synuclein gamma gene CpG island promotes its aberrant expression in breast carcinoma and ovarian carcinoma. Cancer Res 2003;63(3):664-73.
• Hopper JL. Commentary: Case-control-family designs: a paradigm for future epidemiology research? Int J Epidemiol 2003;32(1):48-50.
• Hopper JL, Baron JA. Re: Oral contraceptives and the risk of breast cancer in BRCA1 and BRCA2 mutation carriers. J Natl Cancer Inst 2003;95:1010-1.
• McCredie MR, Dite GS, Southey MA, Venter DJ, Giles GG, Hopper JL. Risk factors for breast cancer in young women by oestrogen receptor and progesterone receptor status. Br J Cancer 2003;89(9):1661-3.
• Montgomery KG, Gertig D, Baxter SW, Milne RL, Dite GS, McCredie MRE, Giles GG, Southey MC, Hopper JL, Campbell IG. The HER2 1655V polymorphism and risk of breast cancer in women < age forty years. Cancer Epidemiol Biomarkers Prev 2003 Oct;12(10):1109-11.
• Okamoto I, Kenyon LC, Emlet DR, Mori T, Sasaki J, Hirosako S, Ichikawa Y, Kishi H, Godwin AK, Yoshioka M, Suga M, Matsumoto M, Wong AJ. Expression of constitutively activated EGFRvIII in non-small cell lung cancer. Cancer Sci 2003;94(1):50-6.
• Osborne RH, Elsworth GR, Hopper JL. Age-specific norms and determinants of anxiety and depression in 731 women with breast cancer recruited through a population-based cancer registry. Eur J Cancer 2003;39(6):755-62.
• Ozcelik H, Knight JA, Glendon G, Yazici H, Carson N, Ainsworth PJ, Taylor SA, Feilotter H, Carter RF, Boyd NF, Andrulis IL, Ontario Cancer Genetics Network. Individual and family characteristics associated with protein truncating BRCA1 and BRCA2 mutations in an Ontario population-based series from the Cooperative Family Registry for Breast Cancer Studies. J Med Genet 2003;40(8):e91.
• Pharaoh P, Antoniou A, Hopper JL, Easton DF. Re: On the use of familial aggregation in population-based case probands for calculating penetrance (letter). J Natl Cancer Inst 2003;95(1):75-6.
• Prowse AH, Schultz DC, Guo S, Vanderveer L, Dangel J, Bove B, Cairns P, Daly M, Godwin AK. Identification of a splice acceptor site mutation in p16INK4A/p14ARF within a breast cancer, melanoma, neurofibroma prone kindred. J Med Genet 2003;40(8):e102.
• Roland IH, Yang WL, Yang DH, Daly MB, Ozols RF, Hamilton TC, Lynch HT, Godwin AK, Xu XX. Loss of surface and cyst epithelial basement membranes and preneoplastic morphological changes in prophylactic oophorectomies. Cancer 2003;98(12):2607-23.
• Scott CL, Jenkins MA, Southey MC, Davis TA, Leary JA, Easton DF, Phillips KA, Hopper JL. Average age-specific cumulative risk of breast cancer according to type and site of germline mutations in BRCA1 and BRCA2 estimated from multiple-case breast cancer families attending Australian family cancer clinics. Hum Genet 2003;112(5-6):542-51.
• Venne VL, Botkin JR, Buys SS. Professional opportunities and responsibilities in the provision of genetic information to children relinquished for adoption. Am J Med Genet A 2003;119(1):41-6.
• Wagner Costalas J, Itzen M, Malick J, Babb JS, Bove B, Godwin AK, Daly MB. Communication of BRCA1 and BRCA2 results to at-risk relatives: a cancer risk assessment program's experience. Am J Med Genet C Semin Med Genet 2003;119(1):11-8.
• Whittemore AS, Gong G. Re: On the use of familial aggregation in population-based case probands for calculating penetrance (letter). J Natl Cancer Inst 2003;95(1):76-7.
• Whittemore AS, Halpern J. Genetic association tests for family data with missing parental genotypes: a comparison. Genet Epidemiol 2003c;25:80-91.
• Whittemore AS, Halpern J. Logistic regression of family data from retrospective study designs. Genet Epidemiol 2003b;25:177-89.

2002

• Ahsan H, Hodge SE, Heiman GA, Begg MD, Susser ES. Relative risk for genetic associations: the case-parent triad as a variant of case-cohort design. Int J Epidemiol 2002;31(3):669-78.
• Andrulis IL, Anton-Culver H, Beck J, Bove B, Boyd J, Buys S, Godwin AK, Hopper JL, Li F, Neuhausen SL, Ozcelik H, Peel D, Santella RM, Southey MC, van Orsouw NJ, Venter DJ, Vijg J, Whittemore AS, Cooperative Family Registry for Breast Cancer Studies. Comparison of DNA- and RNA-based methods for detection of truncating BRCA1 mutations. Hum Mutat 2002;20(1):65-73.
• Cappelli M, Hunter AG, Stern H, Humphreys L, Van Houten L, O'Rourke K, Viertelhausen S, Perras H, Lagarde AE. Participation rates of Ashkenazi Jews in a colon cancer community-based screening/prevention study. Clin Genet 2002;61(2):104-14.
• Chenevix-Trench G, Spurdle AB, Gatei M, Kelly H, Marsh A, Chen X, Donn K, Cummings M, Nyholt D, Jenkins MA, Scott C, Pupo GM, Dork T, Bendix R, Kirk J, Tucker K, McCredie MR, Hopper JL, Sambrook J, Mann GJ, Khanna KK. Dominant negative ATM mutations in breast cancer families. J Natl Cancer Inst 2002;94(3):205-15.
• Cotterchio M, Nadalin V, Sauer M. Human breast cancer and lymphomas may share a common aetiology involving Mouse Mammary Tumour Virus (MMTV). Med Hypotheses 2002;59(4):492-4. Review.
• Esplen MJ. Editorial. Hereditary cancer: fertile ground for collaborative care. Primary Psychiatry: Cancer Care Therapy. Psychosocial Issues in Cancer Genetics 2002;5.
• Esplen MJ. A supportive-expressive group intervention in BRCA1 and BRCA2. French Review of Psychooncology 2002;(4):54-60.
• Frolov A, Prowse AH, Vanderveer L, Bove B, Wu H, Godwin AK. DNA array-based method for detection of large rearrangements in the BRCA1 gene. Genes Chromosomes Cancer 2002;35(3):232-41.
• Hamajima N, Hirose K, Tajima K, Rohan T, Calle EE, Heath CW Jr, Coates RJ, Liff JM, Talamini R, Chantarakul N, Koetsawang S, Rachawat D, Morabia A, Schuman L, Stewart W, Szklo M, Bain C, Schofield F, Siskind V, Band P, et al., Collaborative Group on Hormonal Factors in Breast Cancer. Alcohol, tobacco, breast cancer—collaborative reanalysis of individual data from 53 epidemiological studies, including 58,515 women with breast cancer and 95,067 women without the disease. Br J Cancer 2002;87(11):1234-45.
• Hamajima N, Hirose K, Tajima K, Rohan T, Calle EE, Heath CW Jr, Coates RJ, Liff JM, Talamini R, Chantarakul N, Koetsawang S, Rachawat D, Morabia A, Schuman L, Stewart W, Szklo M, Bain C, Schofield F, Siskind V, Band P, et al., Collaborative Group on Hormonal Factors in Breast Cancer. Breast cancer and breastfeeding: collaborative reanalysis of individual data from 47 epidemiological studies in 30 countries, including 50,302 women with breast cancer and 96,973 women without the disease. Lancet 2002;360(9328):187-95.
• Hopper JL, Dite GS. Re: Presenting statistical uncertainty in trends and dose-response relationships. Am J Epidemiol 2002;155:977-978.
• Hopper, JL. Genetic epidemiology: putting genes and environment into perspective. Chiron 2002;4:11-4.
• Jarjanazi H, Ozcelik H. Modified rapid expansion detection method to analyze CAG/CTG repeat expansions. Biotechniques 2002;35(5):1006-10.
• Knight JA, Sutherland HJ, Glendon G, Boyd NF, Andrulis IL. Characteristics associated with participation at various stages at the Ontario site of the Cooperative Family Registry for Breast Cancer Studies. Ann Epidemiol 2002;12(1):27-33.
• Lin SS, Clarke CA, O'Malley CD, Le GM. Studying cancer incidence and outcomes in immigrants: methodological concerns. Am J Public Health 2002 Nov;92(11):1757-9.
• Lin SS, O'Malley CD, Clarke CA, Le GM. Birthplace and survival among Asian women diagnosed with breast cancer in cancer registry data: the impact of selection bias (letter). Int J Epidemiol 2002 Apr;31(2):511-3.
• Motykiewicz G, Faraglia B, Wand L, Terry MB, Senie RT, Santella RM. Removal of benzo(a)pyrene diol epoxide (BPDE)-DNA adducts as a measure of DNA repair capacity in lymphoblastoid cell lines from sisters discordant for breast cancer. Environ Mol Mutagen 2002;40(2):93-100.
• Quenneville LA, Phillips KA, Ozcelik H, Parkes RK, Knight JA, Goodwin PJ, Andrulis IL, O'Malley FP. HER-2/neu status and tumor morphology of invasive breast carcinomas in Ashkenazi women with known BRCA1 mutation status in the Ontario Familial Breast Cancer Registry. Cancer 2002;95(10):2068-75.
• Shih MC, Whittemore AS. Tests for genetic association using family data. Genet Epidemiol 2002;22:128-45.
• Spurdle AB, Goodwin B, Hodgson E, Hopper JL, Chen X, Purdie DM, McCredie MR, Giles GG, Chenevix-Trench G, Liddle C. The CYP3A4*1B polymorphism has no functional significance and is not associated with risk of breast or ovarian cancer. Pharmacogenetics 2002;12(5):355-66.
• Spurdle AB, Hopper JL, Chen X, Dite GS, Cui J, McCredie MR, Giles GG, Ellis-Steinborner S, Venter DJ, Newman B, Southey MC, Chenevix-Trench G. The BRCA2 372 HH genotype is associated with risk of breast cancer in Australian women under age 60 years. Cancer Epidemiol Biomarkers Prev 2002;11(4):413-6.
• Spurdle AB, Hopper JL, Chen X, McCredie MR, Giles GG, Newman B, Chenevix-Trench G. Prohibitin 3' untranslated region polymorphism and breast cancer risk in Australian women. Lancet 2002;360(9337):925-6.
• Spurdle AB, Hopper JL, Chen X, McCredie MR, Giles GG, Newman B, Chenevix-Trench G, Khanna K. No evidence for association of ataxia-telangiectasia mutated gene T2119C and C3161G amino acid substitution variants with risk of breast cancer. Breast Cancer Res 2002;4(6):R15.
• Spurdle AB, Hopper JL, Chen X, McCredie MR, Giles GG, Venter DJ, Southey MC, Chenevix-Trench G. The progesterone receptor exon 4 Val660Leu G/T polymorphism and risk of breast cancer in Australian women. Cancer Epidemiol Biomarkers Prev 2002;11(5):439-43.
• Thompson D, Szabo CI, Mangion J, Oldenburg RA, Odefrey F, Seal S, Barfoot R, Kroeze-Jansema K, Teare D, Rahman N, Renard H, Mann G, Hopper JL, Buys SS, Andrulis IL, Senie RT, Daly MB, West D, Ostrander EA, Offit K, Peretz T, Osorio A, Benitez J, Nathanson KL, Sinilnikova OM, Olah E, Bignon YJ, Ruiz P, Badzioch MD, Vasen HF, Futreal AP, Phelan CM, Narod SA, Lynch HT, Ponder BA, Eeles RA, Meijers-Heijboer H, Stoppa-Lyonnet D, Couch FJ, Eccles DM, Evans DG, Chang-Claude J, Lenoir G, Weber BL, Devilee P, Easton DF, Goldgar DE, Stratton MR; KConFab Consortium. Evaluation of linkage of breast cancer to the putative BRCA3 locus on chromosome 13q21 in 128 multiple case families from the Breast Cancer Linkage Consortium. Proc Natl Acad Sci U S A 2002;99(2):827-31.
• Venne VL, Smith JA. What do we share? Developing informed consent with teens to join a familial cancer registry. Joint Commission Benchmark 2002;4(1):6-7.

2001

• Beck JC, Beiswanger CM, John EM, Satariano E, West D. Successful transformation of cryopreserved lymphocytes: a resource for epidemiological studies. Cancer Epidemiol Biomarkers Prev 2001;10(5):551-4.
• Collaborative Group on Hormonal Factors in Breast Cancer. Familial breast cancer: collaborative reanalysis of individual data from 52 epidemiological studies including 58,209 women with breast cancer and 101,986 women without the disease. Lancet 2001;358(9291):1389-99.
• Cui J, Antoniou AC, Dite GS, Southey MC, Venter DJ, Easton DF, Giles GG, McCredie MR, Hopper JL. After BRCA1 and BRCA2—what next? Multifactorial segregation analyses of three-generation, population-based Australian families affected by female breast cancer. Am J Hum Genet 2001;68(2):420-31.
• Cui J, Hopper JL. Distribution of family history of a disease as a function of mode of inheritance, genetic relative hazard, allele frequency and disease status of the proband, with application to female breast cancer. J Epidemiol Biostat 2001;6:331-42.
• Di Prospero LS, Seminsky M, Honeyford J, Doan B, Franssen E, Meschino W, Chart P, Warner E. Psychosocial issues following a positive result of genetic testing for BRCA1 and BRCA2 mutations: findings from a focus group and a needs-assessment survey. CMAJ 2001;164(7):1005-9.
• Hopper JL. Genetic epidemiology of female breast cancer. Semin Cancer Biol 2001;11(5):367-74.
• Hopper JL. More breast cancer genes? Breast Cancer Res 2001;3:154-7. Epub 2001 Mar 29.
• Koenig BA. Why not grant primacy to the family? (Commentary). Am J Bioeth 2001;1(3):33-4.
• Kreiger N, Ashbury F, Cotterchio M, Macey J. A qualitative study of subject recruitment for familial cancer research. Ann Epidemiol 2001;11(4):219-24.
• Marsh A, Spurdle AB, Turner BC, Fereday S, Thorne H, Pupo GM, Mann GJ, Hopper JL, Sambrook JF, Chenevix-Trench G; Australian Breast Cancer Family Study; Kathleen Cuningham Foundation for Research into Familial Breast Cancer. The intronic G13964C variant in p53 is not a high-risk mutation in familial breast cancer in Australia. Breast Cancer Res 2001;3(5):346-9. Epub 2001 Jul 17.
• McCredie MR, Dite GS, Porter L, Maskiell J, Giles GG, Phillips KA, Redman S, Hopper JL. Prevalence of self-reported arm morbidity following treatment for breast cancer in the Australian Breast Cancer Family Study. Breast 2001;10(6):515-22.
• Shih MC, Whittemore AS. Allele-sharing among affected relatives: non-parametric methods for indentifying genes. Stat Methods Med Res 2001;10:27-55.
• Spurdle AB, Hopper JL, Chen X, Dite GS, McCredie MR, Giles GG, Venter DJ, Southey MC, Purdie DM, Chenevix-Trench G. The steroid 5 alpha-reductase type II TA repeat polymorphism is not associated with risk of breast or ovarian cancer in Australian women. Cancer Epidemiol Biomarkers Prev 2001;10(12):1287-93.
• Sutherland HJ, Lacroix J, Knight J, Andrulis IL, Boyd NF. The Cooperative Familial Registry for Breast Cancer Studies: design and first year recruitment rates in Ontario. J Clin Epidemiol 2001;54(1):93-8.
• Wang WW, Spurdle AB, Kolachana P, Bove B, Modan B, Ebbers SM, Suthers G, Tucker MA, Kaufman DJ, Doody MM, Tarone RE, Daly M, Levavi H, Pierce H, Chetrit A, Yechezkel GH, Chenevix-Trench G, Offit K, Godwin AK, Struewing JP. A single nucleotide polymorphism in the 5' untranslated region of RAD51 and risk of cancer among BRCA1/2 mutation carriers. Cancer Epidemiol Biomarkers Prev 2001;10(9):955-60.
• Whittemore AS, Halpern J. Problems in the definition, interpretation, and evaluation of genetic heterogeneity. Am J Hum Genet 2001;68:457-65.

2000

• Bordeleau L, Glendon G, Contiga V, Goodwin PJ. Descriptive study on the use of prophylactic surgery in women with known BRCA mutations: the Mount Sinai Hospital experience. Breast Cancer Res Treat 2000;64:518.
• Daly MB, Offit K, Li F, Glendon G, Yaker A, West D, Koenig B, McCredie M, Venne V, Nayfield S, Seminara D. Participation in the cooperative family registry for breast cancer studies: issues of informed consent. J Natl Cancer Inst 2000;92(6):452-6.
• Esplen MJ, Toner B, Hunter J, Glendon G, Liede A, Narod S, Stuckless N, Butler K, Field B. A supportive-expressive group intervention for women with a family history of breast cancer: results of a phase II study. Psychooncology 2000;9(3):243-52.
• Gilpin CA, Carson N, Hunter AG. A preliminary validation of a family history assessment form to select women at risk for breast or ovarian cancer for referral to a genetics center. Clin Genet 2000;58(4):299-308.
• Goodwin PJ. Management of familial breast cancer risk. Breast Cancer Res Treat 2000;62(1)19-33.
• Harmston GE, Scaife C, Buys S, Glenn M, Hart M, Burt RW. Colonoscopy screening in individuals with BRCA1 gene mutation. Am J Gastroenterol 2000;95:2535.
• Phillips KA, Warner E, Meschino WS, Hunter J, Abdolell M, Glendon G, Andrulis IL, Goodwin PJ. Perceptions of Ashkenazi Jewish breast cancer patients on genetic testing for mutations in BRCA1 and BRCA2. Clin Genet 2000;57(5):376-83.
• Press N, Fishman JR, Koenig BA. Collective fear, individualized risk: the social and cultural context of genetic screening for breast cancer. Nurs Ethics 2000;7(3):237-49.
• Spurdle AB, Hopper JL, Dite GS, Chen X, Cui J, McCredie MR, Giles GG, Southey MC, Venter DJ, Easton DF, Chenevix-Trench G. CYP17 promoter polymorphism and breast cancer in Australian women under age forty years. J Natl Cancer Inst 2000;92(20):1674-81.
• Tu IP, Balise RR, Whittemore AS. Detection of disease genes by use of family data. II. Application to nuclear families. Am J Hum Genet 2000;66(4):1341-50.
• Whittemore AS, Tu IP. Detection of disease genes by use of family data. I. Likelihood-based theory. Am J Hum Genet 2000;66(4):1328-40.

1999

• Armes JE, Trute L, White D, Southey MC, Hammet F, Tesoriero A, Hutchins AM, Dite GS, McCredie MR, Giles GG, Hopper JL, Venter DJ. Distinct molecular pathogeneses of early-onset breast cancers in BRCA1 and BRCA2 mutation carriers: a population-based study. Cancer Res 1999;59(8):2011-7.
• Carroll JC, Heisey RE, Warner E, Goel V, McCready DR. Hereditary breast cancer. Psychosocial issues and family physicians' role. Can Fam Physician 1999;45:126-32.
• Chan PC, Wong BYL, Ozcelik H, Cole DE. Simple and rapid detection of BRCA1 and BRCA2 mutations by multiplex mutagenically separated PCR. Clin Chem 1999;45(8 Pt 1):1285-7.
• Foulkes WD, Brunet JS, Warner E, Goodwin PJ, Meschino W, Narod SA, Goss PE, Glendon G. The importance of a family history of breast cancer in predicting the presence of a BRCA mutation. Am J Hum Genet 1999;65(6):1776-9.
• Heisey RE, Carroll JC, Warner E, McCready DR, Goel V. Hereditary breast cancer. Identifying and managing BRCA1 and BRCA2 carriers. Can Fam Physician 1999;45:114-24.
• Hopper JL, Chenevix-Trench G, Jolley DJ, Dite GS, Jenkins MA, Venter DJ, McCredie MR, Giles GG. Design and analysis issues in a population-based, case-control-family study of the genetic epidemiology of breast cancer and the Cooperative Family Registry for Breast Cancer Studies (CFRBCS). J Natl Cancer Inst Monogr 1999;(26):95-100.
• Hopper JL, Jenkins MA. Modeling the probability that an Ashkenazi Jewish woman carries a founder mutation in BRCA1 or BRCA2. Am J Hum Genet 1999;65:1771-1775.
• Ondrusek N, Warner E, Goel V. Development of a knowledge scale about breast cancer and heredity (BCHK). Breast Cancer Res Treat 1999;53(1):69-75.
• Osborne RH, Elsworth GR, Kissane DW, Burke SA, Hopper JL. The Mental Adjustment to Cancer (MAC) scale: replication and refinement in 632 breast cancer patients. Psychol Med 1999;29(6):1335-45.
• Ozcelik H, Nedelcu R, Chan VW, Shi XH, Murphy J, Rosen B, Andrulis IL. Mutation in the coding region of the BRCA1 gene leads to aberrant splicing of the transcript. Hum Mutat 1999;14(6):540-1.
• Phillips KA, Andrulis IL, Goodwin PJ. Breast carcinomas arising in carriers of mutations in BRCA1 or BRCA2: are they prognostically different? J Clin Oncol 1999;17(11):3653-63.
• Phillips KA, Glendon G, Knight JA. Putting the risk of breast cancer in perspective. N Engl J Med 1999;340(2):141-4.
• Phillips KA, Nichol K, Ozcelik H, Knight J, Done SJ, Goodwin PJ, Andrulis IL. Frequency of p53 mutations in breast carcinomas from Ashkenazi Jewish carriers of BRCA1 mutations. J Natl Cancer Inst 1999;91(5):469-73.
• Seminara D. Editorial. Innovative study designs and analytic approaches to the genetic epidemiology of cancer. J Natl Cancer Inst Monogr 1999;(26):1-105.
• Spurdle AB, Dite GS, Chen X, Mayne CJ, Southey MC, Batten LE, Chy H, Trute L, McCredie MR, Giles GG, Armes J, Venter DJ, Hopper JL, Chenevix-Trench G. Androgen receptor exon 1 CAG repeat length and breast cancer in women before age forty years. J Natl Cancer Inst 1999;91(11):961-6.
• Warner E, Foulkes W, Goodwin P, Meschino W, Blondal J, Paterson C, Ozcelik H, Goss P, Allingham-Hawkins D, Hamel N, Di Prospero L, Contiga V, Serruya C, Klein M, Moslehi R, Honeyford J, Liede A, Glendon G, Brunet JS, Narod S. Prevalence and penetrance of BRCA1 and BRCA2 gene mutations in unselected Ashkenazi Jewish women with breast cancer. J Natl Cancer Inst 1999;91(14):1241-7.
• Warner E, Goel V, Ondrusek N, Thiel EC, Lavina H, Lickley A, Chart PL, Meschino WS, Doan BD, Carroll JC, Taylor KM. Pilot study of an information aid for women with a family history of breast cancer. Health Expect 1999;2(2):118-28.
• Warner E, Heisey RE, Goel V, Carroll JC, McCready DR. Hereditary breast cancer. Risk assessment of patients with a family history of breast cancer. Can Fam Physician 1999;45(Jan):104-12.

1998

• Armes JE, Egan AJ, Southey MC, Dite GS, McCredie MR, Giles GG, Hopper JL, Venter DJ. The histologic phenotypes of breast carcinoma occurring before age 40 in women with and without BRCA1 or BRCA2 germline mutations: a population-based study. Cancer 1998;83(11):2335-45.
• Done SJ, Arneson NC, Ozcelik H, Redston M, Andrulis IL. p53 mutations in mammary ductal carcinoma in situ but not in epithelial hyperplasias. Cancer Res 1998;58(4):785-9.
• Esplen MJ, Toner B, Hunter J, Glendon G, Butler K, Field B. A group therapy approach to facilitate integration of risk information for women at risk for breast cancer. Can J Psychiatry 1998;43(4):375-80.
• Frank TS, Manley SA, Olopade OI, Cummings S, Garber JE, Bernhardt B, Antman K, Russo D, Wood ME, Mullineau L, Isaacs C, Peshkin B, Buys S, Venne V, Rowley PT, Loader S, Offit K, Robson M, Hampel H, Brener D, Winer EP, Clark S, Weber B, Strong LC, Thomas A, et al. Sequence analysis of BRCA1 and BRCA2: correlation of mutations with family history and ovarian cancer risk. J Clin Oncol 1998;16(7):2417-25.
• Gaffney DK, Brohet RM, Lewis CM, Holden JA, Buys SS, Neuhausen SL, Steele L, Avizonis V, Stewart JR, Cannon-Albright LA. Response to radiation therapy and prognosis in breast cancer patients with BRCA1 and BRCA2 mutations. Radiother Oncol 1998;47(2):129-36.
• Hoffman JD, Hallam SE, Venne VL, Lyon E, Ward K. Implications of a novel cryptic splice site in the BRCA1 gene. Am J Med Genet 1998;80(2):140-4. Erratum in: Am J Med Genet 1999;82(1):101.
• Koenig BA, Greely HT, McConnell LM, Silverberg HL, Raffin TA. Genetic testing for BRCA1 and BRCA2: recommendations of the Stanford Program in Genomics, Ethics, and Society. Breast Cancer Working Group. J Womens Health 1998;7(5):531-45.
• Lynch BJ, Holden JA, Buys SS, Neuhausen SL, Gaffney DK. Pathobiologic characteristics of hereditary breast cancer. Hum Pathol 1998;29(10):1140-4.
• Ozcelik H, To MD, Couture J, Bull SB, Andrulis IL. Preferential allelic expression can lead to reduced expression of BRCA1 in sporadic breast cancers. Int J Cancer 1998;77(1):1-6.
• Redston M, Nathanson KL, Yuan ZQ, Neuhausen SL, Satagopan J, Wong N, Yang D, Nafa D, Abrahamson J, Ozcelik H, Antin-Ozerkis D, Andrulis I, Daly M, Pinsky L, Schrag D, Gallinger S, Kaback M, King MC, Woodage T, Brody LC, Godwin A, Warner E, Weber B, Foulkes W, Offit K. The APC I1307K allele and breast cancer risk. Nat Genet 1998;20(1):13-4.
• To MD, Done SJ, Redston M, Andrulis IL. Analysis of mRNA from microdissected frozen tissue sections without RNA isolation. Am J Pathol 1998;153(1):47-51.

1997

• Andrulis IL, Boyd NF, Sutherland H. New Ontario familial breast cancer registry to facilitate genetic and epidemiologic studies. Can Fam Physician 1997;43:949-50.
• Bishop DT, Hopper JL. AT-tributable risks? Nature Genetics 1997;15:226.
• Ozcelik H, Schmocker B, Di Nicola N, Shi XH, Langer B, Moore M, Taylor BR, Narod SA, Darlington G, Andrulis IL, Gallinger S, Redston M. Germline BRCA2 6174delT mutations in Ashkenazi Jewish pancreatic cancer patients. Nat Genet 1997;16(1):17-8

1996

• Ozcelik H, Antebi YJ, Cole DE, Andrulis IL. Heteroduplex and protein truncation analysis of the BRCA1 185delAG mutation. Hum Genet 1996;98(3):310-2.