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Y chromosome specific polymorphisms in forensic analysis.

Legal medicine (Tokyo, Japan)

Gusmão L, Brion M, González-Neira A, Lareu M, Carracedo A.
PMID: 12935495
Leg Med (Tokyo). 1999 Apr;1(2):55-60. doi: 10.1016/s1344-6223(99)80013-3.

Human Y chromosome polymorphisms are increasingly interesting, not only for population genetics or evolutionary studies but also for forensics. The state of the art on this subject is reviewed in this paper and the types of Y polymorphisms and...

Publisher Correction: Evidence that breast cancer risk at the 2q35 locus is mediated through IGFBP5 regulation.

Nature communications

Ghoussaini M, Edwards SL, Michailidou K, Nord S, Cowper-Sal Lari R, Desai K, Kar S, Hillman KM, Kaufmann S, Glubb DM, Beesley J, Dennis J, Bolla MK, Wang Q, Dicks E, Guo Q, Schmidt MK, Shah M, Luben R, Brown J, Czene K, Darabi H, Eriksson M, Klevebring D, Bojesen SE, Nordestgaard BG, Nielsen SF, Flyger H, Lambrechts D, Thienpont B, Neven P, Wildiers H, Broeks A, Van't Veer LJ, Rutgers EJT, Couch FJ, Olson JE, Hallberg E, Vachon C, Chang-Claude J, Rudolph A, Seibold P, Flesch-Janys D, Peto J, Dos-Santos-Silva I, Gibson L, Nevanlinna H, Muranen TA, Aittomäki K, Blomqvist C, Hall P, Li J, Liu J, Humphreys K, Kang D, Choi JY, Park SK, Noh DY, Matsuo K, Ito H, Iwata H, Yatabe Y, Guénel P, Truong T, Menegaux F, Sanchez M, Burwinkel B, Marme F, Schneeweiss A, Sohn C, Wu AH, Tseng CC, Van Den Berg D, Stram DO, Benitez J, Pilar Zamora M, Perez JIA, Menéndez P, Shu XO, Lu W, Gao YT, Cai Q, Cox A, Cross SS, Reed MWR, Andrulis IL, Knight JA, Glendon G, Tchatchou S, Sawyer EJ, Tomlinson I, Kerin MJ, Miller N, Haiman CA, Henderson BE, Schumacher F, Le Marchand L, Lindblom A, Margolin S, Teo SH, Yip CH, Lee DSC, Wong TY, Hooning MJ, Martens JWM, Collée JM, van Deurzen CHM, Hopper JL, Southey MC, Tsimiklis H, Kapuscinski MK, Shen CY, Wu PE, Yu JC, Chen ST, Alnæs GG, Borresen-Dale AL, Giles GG, Milne RL, McLean C, Muir K, Lophatananon A, Stewart-Brown S, Siriwanarangsan P, Hartman M, Miao H, Buhari SABS, Teo YY, Fasching PA, Haeberle L, Ekici AB, Beckmann MW, Brenner H, Dieffenbach AK, Arndt V, Stegmaier C, Swerdlow A, Ashworth A, Orr N, Schoemaker MJ, García-Closas M, Figueroa J, Chanock SJ, Lissowska J, Simard J, Goldberg MS, Labrèche F, Dumont M, Winqvist R, Pylkäs K, Jukkola-Vuorinen A, Brauch H, Brüning T, Koto YD, Radice P, Peterlongo P, Bonanni B, Volorio S, Dörk T, Bogdanova NV, Helbig S, Mannermaa A, Kataja V, Kosma VM, Hartikainen JM, Devilee P, Tollenaar RAEM, Seynaeve C, Van Asperen CJ, Jakubowska A, Lubinski J, Jaworska-Bieniek K, Durda K, Slager S, Toland AE, Ambrosone CB, Yannoukakos D, Sangrajrang S, Gaborieau V, Brennan P, McKay J, Hamann U, Torres D, Zheng W, Long J, Anton-Culver H, Neuhausen SL, Luccarini C, Baynes C, Ahmed S, Maranian M, Healey CS, González-Neira A, Pita G, Rosario Alonso M, Álvarez N, Herrero D, Tessier DC, Vincent D, Bacot F, de Santiago I, Carroll J, Caldas C, Brown MA, Lupien M, Kristensen VN, Pharoah PDP, Chenevix-Trench G, French JD, Easton DF, Dunning AM.
PMID: 29633761
Nat Commun. 2018 Apr 10;9:16193. doi: 10.1038/ncomms16193.

This corrects the article DOI: 10.1038/ncomms5999.

Author Correction: A case-only study to identify genetic modifiers of breast cancer risk for BRCA1/BRCA2 mutation carriers.

Nature communications

Coignard J, Lush M, Beesley J, O'Mara TA, Dennis J, Tyrer JP, Barnes DR, McGuffog L, Leslie G, Bolla MK, Adank MA, Agata S, Ahearn T, Aittomäki K, Andrulis IL, Anton-Culver H, Arndt V, Arnold N, Aronson KJ, Arun BK, Augustinsson A, Azzollini J, Barrowdale D, Baynes C, Becher H, Bermisheva M, Bernstein L, Białkowska K, Blomqvist C, Bojesen SE, Bonanni B, Borg A, Brauch H, Brenner H, Burwinkel B, Buys SS, Caldés T, Caligo MA, Campa D, Carter BD, Castelao JE, Chang-Claude J, Chanock SJ, Chung WK, Claes KBM, Clarke CL, Collée JM, Conroy DM, Czene K, Daly MB, Devilee P, Diez O, Ding YC, Domchek SM, Dörk T, Dos-Santos-Silva I, Dunning AM, Dwek M, Eccles DM, Eliassen AH, Engel C, Eriksson M, Evans DG, Fasching PA, Flyger H, Fostira F, Friedman E, Fritschi L, Frost D, Gago-Dominguez M, Gapstur SM, Garber J, Garcia-Barberan V, García-Closas M, García-Sáenz JA, Gaudet MM, Gayther SA, Gehrig A, Georgoulias V, Giles GG, Godwin AK, Goldberg MS, Goldgar DE, González-Neira A, Greene MH, Guénel P, Haeberle L, Hahnen E, Haiman CA, Håkansson N, Hall P, Hamann U, Harrington PA, Hart SN, He W, Hogervorst FBL, Hollestelle A, Hopper JL, Horcasitas DJ, Hulick PJ, Hunter DJ, Imyanitov EN, Jager A, Jakubowska A, James PA, Jensen UB, John EM, Jones ME, Kaaks R, Kapoor PM, Karlan BY, Keeman R, Khusnutdinova E, Kiiski JI, Ko YD, Kosma VM, Kraft P, Kurian AW, Laitman Y, Lambrechts D, Le Marchand L, Lester J, Lesueur F, Lindstrom T, Lopez-Fernández A, Loud JT, Luccarini C, Mannermaa A, Manoukian S, Margolin S, Martens JWM, Mebirouk N, Meindl A, Miller A, Milne RL, Montagna M, Nathanson KL, Neuhausen SL, Nevanlinna H, Nielsen FC, O'Brien KM, Olopade OI, Olson JE, Olsson H, Osorio A, Ottini L, Park-Simon TW, Parsons MT, Pedersen IS, Peshkin B, Peterlongo P, Peto J, Pharoah PDP, Phillips KA, Polley EC, Poppe B, Presneau N, Pujana MA, Punie K, Radice P, Rantala J, Rashid MU, Rennert G, Rennert HS, Robson M, Romero A, Rossing M, Saloustros E, Sandler DP, Santella R, Scheuner MT, Schmidt MK, Schmidt G, Scott C, Sharma P, Soucy P, Southey MC, Spinelli JJ, Steinsnyder Z, Stone J, Stoppa-Lyonnet D, Swerdlow A, Tamimi RM, Tapper WJ, Taylor JA, Terry MB, Teulé A, Thull DL, Tischkowitz M, Toland AE, Torres D, Trainer AH, Truong T, Tung N, Vachon CM, Vega A, Vijai J, Wang Q, Wappenschmidt B, Weinberg CR, Weitzel JN, Wendt C, Wolk A, Yadav S, Yang XR, Yannoukakos D, Zheng W, Ziogas A, Zorn KK, Park SK, Thomassen M, Offit K, Schmutzler RK, Couch FJ, Simard J, Chenevix-Trench G, Easton DF, Andrieu N, Antoniou AC.
PMID: 33990587
Nat Commun. 2021 May 14;12(1):2986. doi: 10.1038/s41467-021-23162-4.

A Correction to this paper has been published: https://doi.org/10.1038/s41467-021-23162-4.

Oncotarget

Jiao X, Aravidis C, Marikkannu R, Rantala J, Picelli S, Adamovic T, Liu T, Maguire P, Kremeyer B, Luo L, von Holst S, Kontham V, Thutkawkorapin J, Margolin S, Du Q, Lundin J, Michailidou K, Bolla MK, Wang Q, Dennis J, Lush M, Ambrosone CB, Andrulis IL, Anton-Culver H, Antonenkova NN, Arndt V, Beckmann MW, Blomqvist C, Blot W, Boeckx B, Bojesen SE, Bonanni B, Brand JS, Brauch H, Brenner H, Broeks A, Brüning T, Burwinkel B, Cai Q, Chang-Claude J, Couch FJ, Cox A, Cross SS, Deming-Halverson SL, Devilee P, Dos-Santos-Silva I, Dörk T, Eriksson M, Fasching PA, Figueroa J, Flesch-Janys D, Flyger H, Gabrielson M, García-Closas M, Giles GG, González-Neira A, Guénel P, Guo Q, Gündert M, Haiman CA, Hallberg E, Hamann U, Harrington P, Hooning MJ, Hopper JL, Huang G, Jakubowska A, Jones ME, Kerin MJ, Kosma VM, Kristensen VN, Lambrechts D, Le Marchand L, Lubinski J, Mannermaa A, Martens JWM, Meindl A, Milne RL, Mulligan AM, Neuhausen SL, Nevanlinna H, Peto J, Pylkäs K, Radice P, Rhenius V, Sawyer EJ, Schmidt MK, Schmutzler RK, Seynaeve C, Shah M, Simard J, Southey MC, Swerdlow AJ, Truong T, Wendt C, Winqvist R, Zheng W, Benitez J, Dunning AM, Pharoah PDP, Easton DF, Czene K, Hall P, Lindblom A.
PMID: 29262523
Oncotarget. 2017 Oct 12;8(61):102769-102782. doi: 10.18632/oncotarget.21800. eCollection 2017 Nov 28.

Most non-

Genomic characterization of individuals presenting extreme phenotypes of high and low risk to develop tobacco-induced lung cancer.

Cancer medicine

Fusco JP, Pita G, Pajares MJ, Andueza MP, Patiño-García A, de-Torres JP, Gurpide A, Zulueta J, Alonso R, Alvarez N, Pio R, Melero I, Sanmamed MF, Rodriguez Ruiz M, Gil-Bazo I, Lopez-Picazo JM, Casanova C, Baz Davila R, Agudo A, Lozano MD, Gonzalez A, Sala N, Ardanaz E, Benitez J, Montuenga L, Gonzalez-Neira A, Perez-Gracia JL.
PMID: 29766673
Cancer Med. 2018 May 15; doi: 10.1002/cam4.1500. Epub 2018 May 15.

Single nucleotide polymorphisms (SNPs) may modulate individual susceptibility to carcinogens. We designed a genome-wide association study to characterize individuals presenting extreme phenotypes of high and low risk to develop tobacco-induced non-small cell lung cancer (NSCLC), and we validated our...

The GoldenGate genotyping assay: custom design, processing, and data analysis.

Methods in molecular biology (Clifton, N.J.)

González-Neira A.
PMID: 23824854
Methods Mol Biol. 2013;1015:147-53. doi: 10.1007/978-1-62703-435-7_9.

The Illumina GoldenGate Assay is a technique that is widely used in molecular genetics to analyze up to thousands of single nucleotide polymorphism (SNPs) simultaneously, providing data of very high quality in a fast and efficient manner. This technique...

Pharmaceutics

Velasco-Ruiz A, Nuñez-Torres R, Pita G, Wildiers H, Lambrechts D, Hatse S, Delombaerde D, Van Brussel T, Alonso MR, Alvarez N, Herraez B, Vulsteke C, Zamora P, Lopez-Fernandez T, Gonzalez-Neira A.
PMID: 34834357
Pharmaceutics. 2021 Nov 16;13(11). doi: 10.3390/pharmaceutics13111942.

Anthracyclines are among the most used chemotherapeutic agents in breast cancer (BC). However their use is hampered by anthracycline-induced cardiotoxicity (AIC). The currently known clinical and genetic risk factors do not fully explain the observed inter-individual variability and only...

Common variants in breast cancer risk loci predispose to distinct tumor subtypes.

Breast cancer research : BCR

Ahearn TU, Zhang H, Michailidou K, Milne RL, Bolla MK, Dennis J, Dunning AM, Lush M, Wang Q, Andrulis IL, Anton-Culver H, Arndt V, Aronson KJ, Auer PL, Augustinsson A, Baten A, Becher H, Behrens S, Benitez J, Bermisheva M, Blomqvist C, Bojesen SE, Bonanni B, Børresen-Dale AL, Brauch H, Brenner H, Brooks-Wilson A, Brüning T, Burwinkel B, Buys SS, Canzian F, Castelao JE, Chang-Claude J, Chanock SJ, Chenevix-Trench G, Clarke CL, Collée JM, Cox A, Cross SS, Czene K, Daly MB, Devilee P, Dörk T, Dwek M, Eccles DM, Evans DG, Fasching PA, Figueroa J, Floris G, Gago-Dominguez M, Gapstur SM, García-Sáenz JA, Gaudet MM, Giles GG, Goldberg MS, González-Neira A, Alnæs GIG, Grip M, Guénel P, Haiman CA, Hall P, Hamann U, Harkness EF, Heemskerk-Gerritsen BAM, Holleczek B, Hollestelle A, Hooning MJ, Hoover RN, Hopper JL, Howell A, Jakimovska M, Jakubowska A, John EM, Jones ME, Jung A, Kaaks R, Kauppila S, Keeman R, Khusnutdinova E, Kitahara CM, Ko YD, Koutros S, Kristensen VN, Krüger U, Kubelka-Sabit K, Kurian AW, Kyriacou K, Lambrechts D, Lee DG, Lindblom A, Linet M, Lissowska J, Llaneza A, Lo WY, MacInnis RJ, Mannermaa A, Manoochehri M, Margolin S, Martinez ME, McLean C, Meindl A, Menon U, Nevanlinna H, Newman WG, Nodora J, Offit K, Olsson H, Orr N, Park-Simon TW, Patel AV, Peto J, Pita G, Plaseska-Karanfilska D, Prentice R, Punie K, Pylkäs K, Radice P, Rennert G, Romero A, Rüdiger T, Saloustros E, Sampson S, Sandler DP, Sawyer EJ, Schmutzler RK, Schoemaker MJ, Schöttker B, Sherman ME, Shu XO, Smichkoska S, Southey MC, Spinelli JJ, Swerdlow AJ, Tamimi RM, Tapper WJ, Taylor JA, Teras LR, Terry MB, Torres D, Troester MA, Vachon CM, van Deurzen CHM, van Veen EM, Wagner P, Weinberg CR, Wendt C, Wesseling J, Winqvist R, Wolk A, Yang XR, Zheng W, Couch FJ, Simard J, Kraft P, Easton DF, Pharoah PDP, Schmidt MK, García-Closas M, Chatterjee N.
PMID: 34983606
Breast Cancer Res. 2022 Jan 04;24(1):2. doi: 10.1186/s13058-021-01484-x.

BACKGROUND: Genome-wide association studies (GWAS) have identified multiple common breast cancer susceptibility variants. Many of these variants have differential associations by estrogen receptor (ER) status, but how these variants relate with other tumor features and intrinsic molecular subtypes is...

Cancers

García-Romero N, Carrión-Navarro J, Areal-Hidalgo P, Ortiz de Mendivil A, Asensi-Puig A, Madurga R, Núñez-Torres R, González-Neira A, Belda-Iniesta C, González-Rumayor V, López-Ibor B, Ayuso-Sacido A.
PMID: 31881643
Cancers (Basel). 2019 Dec 25;12(1). doi: 10.3390/cancers12010066.

Pediatric Central Nervous System (CNS) tumors are the most fatal cancer diseases in childhood. Due to their localization and infiltrative nature, some tumor resections or biopsies are not feasible. In those cases, the use of minimally invasive methods as...

Mendelian randomisation study of smoking exposure in relation to breast cancer risk.

British journal of cancer

Park HA, Neumeyer S, Michailidou K, Bolla MK, Wang Q, Dennis J, Ahearn TU, Andrulis IL, Anton-Culver H, Antonenkova NN, Arndt V, Aronson KJ, Augustinsson A, Baten A, Beane Freeman LE, Becher H, Beckmann MW, Behrens S, Benitez J, Bermisheva M, Bogdanova NV, Bojesen SE, Brauch H, Brenner H, Brucker SY, Burwinkel B, Campa D, Canzian F, Castelao JE, Chanock SJ, Chenevix-Trench G, Clarke CL, Conroy DM, Couch FJ, Cox A, Cross SS, Czene K, Daly MB, Devilee P, Dörk T, Dos-Santos-Silva I, Dwek M, Eccles DM, Eliassen AH, Engel C, Eriksson M, Evans DG, Fasching PA, Flyger H, Fritschi L, García-Closas M, García-Sáenz JA, Gaudet MM, Giles GG, Glendon G, Goldberg MS, Goldgar DE, González-Neira A, Grip M, Guénel P, Hahnen E, Haiman CA, Håkansson N, Hall P, Hamann U, Han S, Harkness EF, Hart SN, He W, Heemskerk-Gerritsen BAM, Hopper JL, Hunter DJ, Jager A, Jakubowska A, John EM, Jung A, Kaaks R, Kapoor PM, Keeman R, Khusnutdinova E, Kitahara CM, Koppert LB, Koutros S, Kristensen VN, Kurian AW, Lacey J, Lambrechts D, Le Marchand L, Lo WY, Lubiński J, Mannermaa A, Manoochehri M, Margolin S, Martinez ME, Mavroudis D, Meindl A, Menon U, Milne RL, Muranen TA, Nevanlinna H, Newman WG, Nordestgaard BG, Offit K, Olshan AF, Olsson H, Park-Simon TW, Peterlongo P, Peto J, Plaseska-Karanfilska D, Presneau N, Radice P, Rennert G, Rennert HS, Romero A, Saloustros E, Sawyer EJ, Schmidt MK, Schmutzler RK, Schoemaker MJ, Schwentner L, Scott C, Shah M, Shu XO, Simard J, Smeets A, Southey MC, Spinelli JJ, Stevens V, Swerdlow AJ, Tamimi RM, Tapper WJ, Taylor JA, Terry MB, Tomlinson I, Troester MA, Truong T, Vachon CM, van Veen EM, Vijai J, Wang S, Wendt C, Winqvist R, Wolk A, Ziogas A, Dunning AM, Pharoah PDP, Easton DF, Zheng W, Kraft P, Chang-Claude J.
PMID: 34341517
Br J Cancer. 2021 Oct;125(8):1135-1145. doi: 10.1038/s41416-021-01432-8. Epub 2021 Aug 02.

BACKGROUND: Despite a modest association between tobacco smoking and breast cancer risk reported by recent epidemiological studies, it is still equivocal whether smoking is causally related to breast cancer risk.METHODS: We applied Mendelian randomisation (MR) to evaluate a potential...

Gene-Environment Interactions Relevant to Estrogen and Risk of Breast Cancer: Can Gene-Environment Interactions Be Detected Only among Candidate SNPs from Genome-Wide Association Studies?.

Cancers

Park J, Choi JY, Choi J, Chung S, Song N, Park SK, Han W, Noh DY, Ahn SH, Lee JW, Kim MK, Jee SH, Wen W, Bolla MK, Wang Q, Dennis J, Michailidou K, Shah M, Conroy DM, Harrington PA, Mayes R, Czene K, Hall P, Teras LR, Patel AV, Couch FJ, Olson JE, Sawyer EJ, Roylance R, Bojesen SE, Flyger H, Lambrechts D, Baten A, Matsuo K, Ito H, Guénel P, Truong T, Keeman R, Schmidt MK, Wu AH, Tseng CC, Cox A, Cross SS, kConFab Investigators, Andrulis IL, Hopper JL, Southey MC, Wu PE, Shen CY, Fasching PA, Ekici AB, Muir K, Lophatananon A, Brenner H, Arndt V, Jones ME, Swerdlow AJ, Hoppe R, Ko YD, Hartman M, Li J, Mannermaa A, Hartikainen JM, Benitez J, González-Neira A, Haiman CA, Dörk T, Bogdanova NV, Teo SH, Mohd Taib NA, Fletcher O, Johnson N, Grip M, Winqvist R, Blomqvist C, Nevanlinna H, Lindblom A, Wendt C, Kristensen VN, Nbcs Collaborators, Tollenaar RAEM, Heemskerk-Gerritsen BAM, Radice P, Bonanni B, Hamann U, Manoochehri M, Lacey JV, Martinez ME, Dunning AM, Pharoah PDP, Easton DF, Yoo KY, Kang D.
PMID: 34069208
Cancers (Basel). 2021 May 14;13(10). doi: 10.3390/cancers13102370.

In this study we aim to examine gene-environment interactions (GxEs) between genes involved with estrogen metabolism and environmental factors related to estrogen exposure. GxE analyses were conducted with 1970 Korean breast cancer cases and 2052 controls in the case-control...

Common variants in breast cancer risk loci predispose to distinct tumor subtypes.

Breast cancer research : BCR

Ahearn TU, Zhang H, Michailidou K, Milne RL, Bolla MK, Dennis J, Dunning AM, Lush M, Wang Q, Andrulis IL, Anton-Culver H, Arndt V, Aronson KJ, Auer PL, Augustinsson A, Baten A, Becher H, Behrens S, Benitez J, Bermisheva M, Blomqvist C, Bojesen SE, Bonanni B, Børresen-Dale AL, Brauch H, Brenner H, Brooks-Wilson A, Brüning T, Burwinkel B, Buys SS, Canzian F, Castelao JE, Chang-Claude J, Chanock SJ, Chenevix-Trench G, Clarke CL, Collée JM, Cox A, Cross SS, Czene K, Daly MB, Devilee P, Dörk T, Dwek M, Eccles DM, Evans DG, Fasching PA, Figueroa J, Floris G, Gago-Dominguez M, Gapstur SM, García-Sáenz JA, Gaudet MM, Giles GG, Goldberg MS, González-Neira A, Alnæs GIG, Grip M, Guénel P, Haiman CA, Hall P, Hamann U, Harkness EF, Heemskerk-Gerritsen BAM, Holleczek B, Hollestelle A, Hooning MJ, Hoover RN, Hopper JL, Howell A, Jakimovska M, Jakubowska A, John EM, Jones ME, Jung A, Kaaks R, Kauppila S, Keeman R, Khusnutdinova E, Kitahara CM, Ko YD, Koutros S, Kristensen VN, Krüger U, Kubelka-Sabit K, Kurian AW, Kyriacou K, Lambrechts D, Lee DG, Lindblom A, Linet M, Lissowska J, Llaneza A, Lo WY, MacInnis RJ, Mannermaa A, Manoochehri M, Margolin S, Martinez ME, McLean C, Meindl A, Menon U, Nevanlinna H, Newman WG, Nodora J, Offit K, Olsson H, Orr N, Park-Simon TW, Patel AV, Peto J, Pita G, Plaseska-Karanfilska D, Prentice R, Punie K, Pylkäs K, Radice P, Rennert G, Romero A, Rüdiger T, Saloustros E, Sampson S, Sandler DP, Sawyer EJ, Schmutzler RK, Schoemaker MJ, Schöttker B, Sherman ME, Shu XO, Smichkoska S, Southey MC, Spinelli JJ, Swerdlow AJ, Tamimi RM, Tapper WJ, Taylor JA, Teras LR, Terry MB, Torres D, Troester MA, Vachon CM, van Deurzen CHM, van Veen EM, Wagner P, Weinberg CR, Wendt C, Wesseling J, Winqvist R, Wolk A, Yang XR, Zheng W, Couch FJ, Simard J, Kraft P, Easton DF, Pharoah PDP, Schmidt MK, García-Closas M, Chatterjee N.
PMID: 34983606
Breast Cancer Res. 2022 Jan 04;24(1):2. doi: 10.1186/s13058-021-01484-x.

BACKGROUND: Genome-wide association studies (GWAS) have identified multiple common breast cancer susceptibility variants. Many of these variants have differential associations by estrogen receptor (ER) status, but how these variants relate with other tumor features and intrinsic molecular subtypes is...

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