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Items: 25

1.

PALB2, CHEK2 and ATM rare variants and cancer risk: data from COGS.

Southey MC, Goldgar DE, Winqvist R, Pylkäs K, Couch F, Tischkowitz M, Foulkes WD, Dennis J, Michailidou K, van Rensburg EJ, Heikkinen T, Nevanlinna H, Hopper JL, Dörk T, Claes KB, Reis-Filho J, Teo ZL, Radice P, Catucci I, Peterlongo P, Tsimiklis H, Odefrey FA, Dowty JG, Schmidt MK, Broeks A, Hogervorst FB, Verhoef S, Carpenter J, Clarke C, Scott RJ, Fasching PA, Haeberle L, Ekici AB, Beckmann MW, Peto J, Dos-Santos-Silva I, Fletcher O, Johnson N, Bolla MK, Sawyer EJ, Tomlinson I, Kerin MJ, Miller N, Marme F, Burwinkel B, Yang R, Guénel P, Truong T, Menegaux F, Sanchez M, Bojesen S, Nielsen SF, Flyger H, Benitez J, Zamora MP, Perez JI, Menéndez P, Anton-Culver H, Neuhausen S, Ziogas A, Clarke CA, Brenner H, Arndt V, Stegmaier C, Brauch H, Brüning T, Ko YD, Muranen TA, Aittomäki K, Blomqvist C, Bogdanova NV, Antonenkova NN, Lindblom A, Margolin S, Mannermaa A, Kataja V, Kosma VM, Hartikainen JM, Spurdle AB, Investigators K; Australian Ovarian Cancer Study Group, Wauters E, Smeets D, Beuselinck B, Floris G, Chang-Claude J, Rudolph A, Seibold P, Flesch-Janys D, Olson JE, Vachon C, Pankratz VS, McLean C, Haiman CA, Henderson BE, Schumacher F, Le Marchand L, Kristensen V, Alnæs GG, Zheng W, Hunter DJ, Lindstrom S, Hankinson SE, Kraft P, Andrulis I, Knight JA, Glendon G, Mulligan AM, Jukkola-Vuorinen A, Grip M, Kauppila S, Devilee P, Tollenaar RA, Seynaeve C, Hollestelle A, Garcia-Closas M, Figueroa J, Chanock SJ, Lissowska J, Czene K, Darabi H, Eriksson M, Eccles DM, Rafiq S, Tapper WJ, Gerty SM, Hooning MJ, Martens JW, Collée JM, Tilanus-Linthorst M, Hall P, Li J, Brand JS, Humphreys K, Cox A, Reed MW, Luccarini C, Baynes C, Dunning AM, Hamann U, Torres D, Ulmer HU, Rüdiger T, Jakubowska A, Lubinski J, Jaworska K, Durda K, Slager S, Toland AE, Ambrosone CB, Yannoukakos D, Swerdlow A, Ashworth A, Orr N, Jones M, González-Neira A, Pita G, Alonso MR, Álvarez N, Herrero D, Tessier DC, Vincent D, Bacot F, Simard J, Dumont M, Soucy P, Eeles R, Muir K, Wiklund F, Gronberg H, Schleutker J, Nordestgaard BG, Weischer M, Travis RC, Neal D, Donovan JL, Hamdy FC, Khaw KT, Stanford JL, Blot WJ, Thibodeau S, Schaid DJ, Kelley JL, Maier C, Kibel AS, Cybulski C, Cannon-Albright L, Butterbach K, Park J, Kaneva R, Batra J, Teixeira MR, Kote-Jarai Z, Olama AA, Benlloch S, Renner SP, Hartmann A, Hein A, Ruebner M, Lambrechts D, Van Nieuwenhuysen E, Vergote I, Lambretchs S, Doherty JA, Rossing MA, Nickels S, Eilber U, Wang-Gohrke S, Odunsi K, Sucheston-Campbell LE, Friel G, Lurie G, Killeen JL, Wilkens LR, Goodman MT, Runnebaum I, Hillemanns PA, Pelttari LM, Butzow R, Modugno F, Edwards RP, Ness RB, Moysich KB, du Bois A, Heitz F, Harter P, Kommoss S, Karlan BY, Walsh C, Lester J, Jensen A, Kjaer SK, Høgdall E, Peissel B, Bonanni B, Bernard L, Goode EL, Fridley BL, Vierkant RA, Cunningham JM, Larson MC, Fogarty ZC, Kalli KR, Liang D, Lu KH, Hildebrandt MA, Wu X, Levine DA, Dao F, Bisogna M, Berchuck A, Iversen ES, Marks JR, Akushevich L, Cramer DW, Schildkraut J, Terry KL, Poole EM, Stampfer M, Tworoger SS, Bandera EV, Orlow I, Olson SH, Bjorge L, Salvesen HB, van Altena AM, Aben KK, Kiemeney LA, Massuger LF, Pejovic T, Bean Y, Brooks-Wilson A, Kelemen LE, Cook LS, Le ND, Górski B, Gronwald J, Menkiszak J, Høgdall CK, Lundvall L, Nedergaard L, Engelholm SA, Dicks E, Tyrer J, Campbell I, McNeish I, Paul J, Siddiqui N, Glasspool R, Whittemore AS, Rothstein JH, McGuire V, Sieh W, Cai H, Shu XO, Teten RT, Sutphen R, McLaughlin JR, Narod SA, Phelan CM, Monteiro AN, Fenstermacher D, Lin HY, Permuth JB, Sellers TA, Chen YA, Tsai YY, Chen Z, Gentry-Maharaj A, Gayther SA, Ramus SJ, Menon U, Wu AH, Pearce CL, Van Den Berg D, Pike MC, Dansonka-Mieszkowska A, Plisiecka-Halasa J, Moes-Sosnowska J, Kupryjanczyk J, Pharoah PD, Song H, Winship I, Chenevix-Trench G, Giles GG, Tavtigian SV, Easton DF, Milne RL.

J Med Genet. 2016 Dec;53(12):800-811. doi: 10.1136/jmedgenet-2016-103839. Epub 2016 Sep 5.

2.

Rare mutations in RINT1 predispose carriers to breast and Lynch syndrome-spectrum cancers.

Park DJ, Tao K, Le Calvez-Kelm F, Nguyen-Dumont T, Robinot N, Hammet F, Odefrey F, Tsimiklis H, Teo ZL, Thingholm LB, Young EL, Voegele C, Lonie A, Pope BJ, Roane TC, Bell R, Hu H, Shankaracharya, Huff CD, Ellis J, Li J, Makunin IV, John EM, Andrulis IL, Terry MB, Daly M, Buys SS, Snyder C, Lynch HT, Devilee P, Giles GG, Hopper JL, Feng BJ, Lesueur F, Tavtigian SV, Southey MC, Goldgar DE.

Cancer Discov. 2014 Jul;4(7):804-15. doi: 10.1158/2159-8290.CD-14-0212. Epub 2014 May 2.

3.

Explaining variance in the cumulus mammographic measures that predict breast cancer risk: a twins and sisters study.

Nguyen TL, Schmidt DF, Makalic E, Dite GS, Stone J, Apicella C, Bui M, Macinnis RJ, Odefrey F, Cawson JN, Treloar SA, Southey MC, Giles GG, Hopper JL.

Cancer Epidemiol Biomarkers Prev. 2013 Dec;22(12):2395-403. doi: 10.1158/1055-9965.EPI-13-0481. Epub 2013 Oct 15.

4.

Tumour morphology predicts PALB2 germline mutation status.

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.

Br J Cancer. 2013 Jul 9;109(1):154-63. doi: 10.1038/bjc.2013.295. Epub 2013 Jun 20.

5.

Prevalence of PALB2 mutations in Australasian multiple-case breast cancer families.

Teo ZL, Park DJ, Provenzano E, Chatfield CA, Odefrey FA, Nguyen-Dumont T; kConFab, Dowty JG, Hopper JL, Winship I, Goldgar DE, Southey MC.

Breast Cancer Res. 2013 Feb 28;15(1):R17. doi: 10.1186/bcr3392.

6.

FAVR (Filtering and Annotation of Variants that are Rare): methods to facilitate the analysis of rare germline genetic variants from massively parallel sequencing datasets.

Pope BJ, Nguyen-Dumont T, Odefrey F, Hammet F, Bell R, Tao K, Tavtigian SV, Goldgar DE, Lonie A, Southey MC, Park DJ.

BMC Bioinformatics. 2013 Feb 25;14:65. doi: 10.1186/1471-2105-14-65.

7.

Whole exome sequencing suggests much of non-BRCA1/BRCA2 familial breast cancer is due to moderate and low penetrance susceptibility alleles.

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.

PLoS One. 2013;8(2):e55681. doi: 10.1371/journal.pone.0055681. Epub 2013 Feb 8.

8.

Rare mutations in XRCC2 increase the risk of breast cancer.

Park DJ, Lesueur F, Nguyen-Dumont T, Pertesi M, Odefrey F, Hammet F, Neuhausen SL, John EM, Andrulis IL, Terry MB, Daly M, Buys S, Le Calvez-Kelm F, Lonie A, Pope BJ, Tsimiklis H, Voegele C, Hilbers FM, Hoogerbrugge N, Barroso A, Osorio A; Breast Cancer Family Registry; Kathleen Cuningham Foundation Consortium for Research into Familial Breast Cancer, Giles GG, Devilee P, Benitez J, Hopper JL, Tavtigian SV, Goldgar DE, Southey MC.

Am J Hum Genet. 2012 Apr 6;90(4):734-9. doi: 10.1016/j.ajhg.2012.02.027. Epub 2012 Mar 29.

9.

Common breast cancer susceptibility variants in LSP1 and RAD51L1 are associated with mammographic density measures that predict breast cancer risk.

Vachon CM, Scott CG, Fasching PA, Hall P, Tamimi RM, Li J, Stone J, Apicella C, Odefrey F, Gierach GL, Jud SM, Heusinger K, Beckmann MW, Pollan M, Fernández-Navarro P, Gonzalez-Neira A, Benitez J, van Gils CH, Lokate M, Onland-Moret NC, Peeters PH, Brown J, Leyland J, Varghese JS, Easton DF, Thompson DJ, Luben RN, Warren RM, Wareham NJ, Loos RJ, Khaw KT, Ursin G, Lee E, Gayther SA, Ramus SJ, Eeles RA, Leach MO, Kwan-Lim G, Couch FJ, Giles GG, Baglietto L, Krishnan K, Southey MC, Le Marchand L, Kolonel LN, Woolcott C, Maskarinec G, Haiman CA, Walker K, Johnson N, McCormack VA, Biong M, Alnaes GI, Gram IT, Kristensen VN, Børresen-Dale AL, Lindström S, Hankinson SE, Hunter DJ, Andrulis IL, Knight JA, Boyd NF, Figuero JD, Lissowska J, Wesolowska E, Peplonska B, Bukowska A, Reszka E, Liu J, Eriksson L, Czene K, Audley T, Wu AH, Pankratz VS, Hopper JL, dos-Santos-Silva I.

Cancer Epidemiol Biomarkers Prev. 2012 Jul;21(7):1156-66. doi: 10.1158/1055-9965.EPI-12-0066. Epub 2012 Mar 27.

10.

The rs12975333 variant in the miR-125a and breast cancer risk in Germany, Italy, Australia and Spain.

Peterlongo P, Caleca L, Cattaneo E, Ravagnani F, Bianchi T, Galastri L, Bernard L, Ficarazzi F, Dall'olio V, Marme F, Langheinz A, Sohn C, Burwinkel B, Giles GG, Baglietto L, Severi G, Odefrey FA, Southey MC, Osorio A, Fernández F, Alonso MR, Benítez J, Barile M, Peissel B, Manoukian S, Radice P.

J Med Genet. 2011 Oct;48(10):703-4. doi: 10.1136/jmedgenet-2011-100103. No abstract available.

PMID:
21931172
11.

FAN1 variants identified in multiple-case early-onset breast cancer families via exome sequencing: no evidence for association with risk for breast cancer.

Park DJ, Odefrey FA, Hammet F, Giles GG, Baglietto L, ABCFS, MCCS, Hopper JL, Schmidt DF, Makalic E, Sinilnikova OM, Goldgar DE, Southey MC.

Breast Cancer Res Treat. 2011 Dec;130(3):1043-9. doi: 10.1007/s10549-011-1704-y. Epub 2011 Aug 21.

PMID:
21858661
12.

Associations of breast cancer risk factors with tumor subtypes: a pooled analysis from the Breast Cancer Association Consortium studies.

Yang XR, Chang-Claude J, Goode EL, Couch FJ, Nevanlinna H, Milne RL, Gaudet M, Schmidt MK, Broeks A, Cox A, Fasching PA, Hein R, Spurdle AB, Blows F, Driver K, Flesch-Janys D, Heinz J, Sinn P, Vrieling A, Heikkinen T, Aittomäki K, Heikkilä P, Blomqvist C, Lissowska J, Peplonska B, Chanock S, Figueroa J, Brinton L, Hall P, Czene K, Humphreys K, Darabi H, Liu J, Van 't Veer LJ, van Leeuwen FE, Andrulis IL, Glendon G, Knight JA, Mulligan AM, O'Malley FP, Weerasooriya N, John EM, Beckmann MW, Hartmann A, Weihbrecht SB, Wachter DL, Jud SM, Loehberg CR, Baglietto L, English DR, Giles GG, McLean CA, Severi G, Lambrechts D, Vandorpe T, Weltens C, Paridaens R, Smeets A, Neven P, Wildiers H, Wang X, Olson JE, Cafourek V, Fredericksen Z, Kosel M, Vachon C, Cramp HE, Connley D, Cross SS, Balasubramanian SP, Reed MW, Dörk T, Bremer M, Meyer A, Karstens JH, Ay A, Park-Simon TW, Hillemanns P, Arias Pérez JI, Menéndez Rodríguez P, Zamora P, Benítez J, Ko YD, Fischer HP, Hamann U, Pesch B, Brüning T, Justenhoven C, Brauch H, Eccles DM, Tapper WJ, Gerty SM, Sawyer EJ, Tomlinson IP, Jones A, Kerin M, Miller N, McInerney N, Anton-Culver H, Ziogas A, Shen CY, Hsiung CN, Wu PE, Yang SL, Yu JC, Chen ST, Hsu GC, Haiman CA, Henderson BE, Le Marchand L, Kolonel LN, Lindblom A, Margolin S, Jakubowska A, Lubiński J, Huzarski T, Byrski T, Górski B, Gronwald J, Hooning MJ, Hollestelle A, van den Ouweland AM, Jager A, Kriege M, Tilanus-Linthorst MM, Collée M, Wang-Gohrke S, Pylkäs K, Jukkola-Vuorinen A, Mononen K, Grip M, Hirvikoski P, Winqvist R, Mannermaa A, Kosma VM, Kauppinen J, Kataja V, Auvinen P, Soini Y, Sironen R, Bojesen SE, Ørsted DD, Kaur-Knudsen D, Flyger H, Nordestgaard BG, Holland H, Chenevix-Trench G, Manoukian S, Barile M, Radice P, Hankinson SE, Hunter DJ, Tamimi R, Sangrajrang S, Brennan P, McKay J, Odefrey F, Gaborieau V, Devilee P, Huijts PE, Tollenaar RA, Seynaeve C, Dite GS, Apicella C, Hopper JL, Hammet F, Tsimiklis H, Smith LD, Southey MC, Humphreys MK, Easton D, Pharoah P, Sherman ME, Garcia-Closas M.

J Natl Cancer Inst. 2011 Feb 2;103(3):250-63. doi: 10.1093/jnci/djq526. Epub 2010 Dec 29.

13.

A PALB2 mutation associated with high risk of breast cancer.

Southey MC, Teo ZL, Dowty JG, Odefrey FA, Park DJ, Tischkowitz M, Sabbaghian N, Apicella C, Byrnes GB, Winship I, Baglietto L, Giles GG, Goldgar DE, Foulkes WD, Hopper JL; kConFab for the Beast Cancer Family Registry.

Breast Cancer Res. 2010;12(6):R109. doi: 10.1186/bcr2796. Epub 2010 Dec 23.

14.

Common genetic variants associated with breast cancer and mammographic density measures that predict disease.

Odefrey F, Stone J, Gurrin LC, Byrnes GB, Apicella C, Dite GS, Cawson JN, Giles GG, Treloar SA, English DR, Hopper JL, Southey MC; Australian Twins and Sisters Mammographic Density Study.

Cancer Res. 2010 Feb 15;70(4):1449-58. doi: 10.1158/0008-5472.CAN-09-3495. Epub 2010 Feb 9.

15.

Are PALB2 mutations associated with increased risk of male breast cancer?

Sauty de Chalon A, Teo Z, Park DJ, Odefrey FA; kConFab, Hopper JL, Southey MC.

Breast Cancer Res Treat. 2010 May;121(1):253-5. doi: 10.1007/s10549-009-0673-x. Epub 2009 Dec 20. No abstract available.

PMID:
20091115
16.

FGFR2 variants and breast cancer risk: fine-scale mapping using African American studies and analysis of chromatin conformation.

Udler MS, Meyer KB, Pooley KA, Karlins E, Struewing JP, Zhang J, Doody DR, MacArthur S, Tyrer J, Pharoah PD, Luben R, Bernstein L, Kolonel LN, Henderson BE, Le Marchand L, Ursin G, Press MF, Brennan P, Sangrajrang S, Gaborieau V, Odefrey F, Shen CY, Wu PE, Wang HC, Kang D, Yoo KY, Noh DY, Ahn SH, Ponder BA, Haiman CA, Malone KE, Dunning AM, Ostrander EA, Easton DF; SEARCH Collaborators.

Hum Mol Genet. 2009 May 1;18(9):1692-703. doi: 10.1093/hmg/ddp078. Epub 2009 Feb 17.

17.

Heterogeneity of breast cancer associations with five susceptibility loci by clinical and pathological characteristics.

Garcia-Closas M, Hall P, Nevanlinna H, Pooley K, Morrison J, Richesson DA, Bojesen SE, Nordestgaard BG, Axelsson CK, Arias JI, Milne RL, Ribas G, González-Neira A, Benítez J, Zamora P, Brauch H, Justenhoven C, Hamann U, Ko YD, Bruening T, Haas S, Dörk T, Schürmann P, Hillemanns P, Bogdanova N, Bremer M, Karstens JH, Fagerholm R, Aaltonen K, Aittomäki K, von Smitten K, Blomqvist C, Mannermaa A, Uusitupa M, Eskelinen M, Tengström M, Kosma VM, Kataja V, Chenevix-Trench G, Spurdle AB, Beesley J, Chen X; Australian Ovarian Cancer Management Group; Kathleen Cuningham Foundation Consortium for Research into Familial Breast Cancer, Devilee P, van Asperen CJ, Jacobi CE, Tollenaar RA, Huijts PE, Klijn JG, Chang-Claude J, Kropp S, Slanger T, Flesch-Janys D, Mutschelknauss E, Salazar R, Wang-Gohrke S, Couch F, Goode EL, Olson JE, Vachon C, Fredericksen ZS, Giles GG, Baglietto L, Severi G, Hopper JL, English DR, Southey MC, Haiman CA, Henderson BE, Kolonel LN, Le Marchand L, Stram DO, Hunter DJ, Hankinson SE, Cox DG, Tamimi R, Kraft P, Sherman ME, Chanock SJ, Lissowska J, Brinton LA, Peplonska B, Klijn JG, Hooning MJ, Meijers-Heijboer H, Collee JM, van den Ouweland A, Uitterlinden AG, Liu J, Lin LY, Yuqing L, Humphreys K, Czene K, Cox A, Balasubramanian SP, Cross SS, Reed MW, Blows F, Driver K, Dunning A, Tyrer J, Ponder BA, Sangrajrang S, Brennan P, McKay J, Odefrey F, Gabrieau V, Sigurdson A, Doody M, Struewing JP, Alexander B, Easton DF, Pharoah PD.

PLoS Genet. 2008 Apr 25;4(4):e1000054. doi: 10.1371/journal.pgen.1000054.

18.

Genome-wide association study identifies novel breast cancer susceptibility loci.

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.

Nature. 2007 Jun 28;447(7148):1087-93.

19.

Uncommon CHEK2 mis-sense variant and reduced risk of tobacco-related cancers: case control study.

Brennan P, McKay J, Moore L, Zaridze D, Mukeria A, Szeszenia-Dabrowska N, Lissowska J, Rudnai P, Fabianova E, Mates D, Bencko V, Foretova L, Janout V, Chow WH, Rothman N, Chabrier A, Gaborieau V, Odefrey F, Southey M, Hashibe M, Hall J, Boffetta P, Peto J, Peto R, Hung RJ.

Hum Mol Genet. 2007 Aug 1;16(15):1794-801. Epub 2007 May 21.

PMID:
17517688
20.

A common coding variant in CASP8 is associated with breast cancer risk.

Cox A, Dunning AM, Garcia-Closas M, Balasubramanian S, Reed MW, Pooley KA, Scollen S, Baynes C, Ponder BA, Chanock S, Lissowska J, Brinton L, Peplonska B, Southey MC, Hopper JL, McCredie MR, Giles GG, Fletcher O, Johnson N, dos Santos Silva I, Gibson L, Bojesen SE, Nordestgaard BG, Axelsson CK, Torres D, Hamann U, Justenhoven C, Brauch H, Chang-Claude J, Kropp S, Risch A, Wang-Gohrke S, Schürmann P, Bogdanova N, Dörk T, Fagerholm R, Aaltonen K, Blomqvist C, Nevanlinna H, Seal S, Renwick A, Stratton MR, Rahman N, Sangrajrang S, Hughes D, Odefrey F, Brennan P, Spurdle AB, Chenevix-Trench G; Kathleen Cunningham Foundation Consortium for Research into Familial Breast Cancer, Beesley J, Mannermaa A, Hartikainen J, Kataja V, Kosma VM, Couch FJ, Olson JE, Goode EL, Broeks A, Schmidt MK, Hogervorst FB, Van't Veer LJ, Kang D, Yoo KY, Noh DY, Ahn SH, Wedrén S, Hall P, Low YL, Liu J, Milne RL, Ribas G, Gonzalez-Neira A, Benitez J, Sigurdson AJ, Stredrick DL, Alexander BH, Struewing JP, Pharoah PD, Easton DF; Breast Cancer Association Consortium.

Nat Genet. 2007 Mar;39(3):352-8. Epub 2007 Feb 11. Erratum in: Nat Genet. 2007 May;39(5):688.

PMID:
17293864
21.

A genome wide linkage search for breast cancer susceptibility genes.

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 HF, 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 P, Nathanson KL, Weber BL; Breast Cancer Susceptibility Collaboration (UK), Rahman N, Stratton MR.

Genes Chromosomes Cancer. 2006 Jul;45(7):646-55.

22.

Are ATM mutations 7271T-->G and IVS10-6T-->G really high-risk breast cancer-susceptibility alleles?

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.

Cancer Res. 2004 Feb 1;64(3):840-3.

23.

Germline truncating mutations in both MSH2 and BRCA2 in a single kindred.

Thiffault I, Hamel N, Pal T, McVety S, Marcus VA, Farber D, Cowie S, Deschênes J, Meschino W, Odefrey F, Goldgar D, Graham T, Narod S, Watters AK, MacNamara E, Du Sart D, Chong G, Foulkes WD.

Br J Cancer. 2004 Jan 26;90(2):483-91.

24.

Haplotype analysis of the BRCA2 9254delATCAT recurrent mutation in breast/ovarian cancer families from Spain.

Campos B, Díez O, Odefrey F, Domènech M, Moncoutier V, Martínez-Ferrandis JI, Osorio A, Balmaña J, Barroso A, Armengod ME, Benítez J, Alonso C, Stoppa-Lyonnet D, Goldgar D, Baiget M.

Hum Mutat. 2003 Apr;21(4):452.

PMID:
12655574
25.

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.

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 R, Daly MB, West D, Ostrander EA, Offit K, Peretz T, Osorio A, Benitez J, Nathanson KL, Sinilnikova OM, Olàh 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.

Proc Natl Acad Sci U S A. 2002 Jan 22;99(2):827-31. Epub 2002 Jan 15.

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