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11 results on '"Obdeijn, I"'

1. Automated Final Lesion Segmentation in Posterior Circulation Acute Ischemic Stroke Using Deep Learning

Author

Zoetmulder, R, Konduri, PR, Obdeijn, I, Gavves, E, Isgum, I, Majoie, CBLM, Dippel, DWJ, Roos, YBWEM, Goyal, M, Mitchell, PJ, Campbell, BC, Lopes, DK, Reimann, G, Jovin, TG, Saver, JL, Muir, KW, White, P, Bracard, S, Chen, B, Brown, S, Schonewille, WJ, van der Hoeven, E, Puetz, V, Marquering, HA, Zoetmulder, R, Konduri, PR, Obdeijn, I, Gavves, E, Isgum, I, Majoie, CBLM, Dippel, DWJ, Roos, YBWEM, Goyal, M, Mitchell, PJ, Campbell, BC, Lopes, DK, Reimann, G, Jovin, TG, Saver, JL, Muir, KW, White, P, Bracard, S, Chen, B, Brown, S, Schonewille, WJ, van der Hoeven, E, Puetz, V, and Marquering, HA

Abstract

Final lesion volume (FLV) is a surrogate outcome measure in anterior circulation stroke (ACS). In posterior circulation stroke (PCS), this relation is plausibly understudied due to a lack of methods that automatically quantify FLV. The applicability of deep learning approaches to PCS is limited due to its lower incidence compared to ACS. We evaluated strategies to develop a convolutional neural network (CNN) for PCS lesion segmentation by using image data from both ACS and PCS patients. We included follow-up non-contrast computed tomography scans of 1018 patients with ACS and 107 patients with PCS. To assess whether an ACS lesion segmentation generalizes to PCS, a CNN was trained on ACS data (ACS-CNN). Second, to evaluate the performance of only including PCS patients, a CNN was trained on PCS data. Third, to evaluate the performance when combining the datasets, a CNN was trained on both datasets. Finally, to evaluate the performance of transfer learning, the ACS-CNN was fine-tuned using PCS patients. The transfer learning strategy outperformed the other strategies in volume agreement with an intra-class correlation of 0.88 (95% CI: 0.83-0.92) vs. 0.55 to 0.83 and a lesion detection rate of 87% vs. 41-77 for the other strategies. Hence, transfer learning improved the FLV quantification and detection rate of PCS lesions compared to the other strategies.

Published
2021

2. Fine-mapping of 150 breast cancer risk regions identifies 191 likely target genes.

Author

Ramus S.J., Carroll J.S., Schneeweiss A., Schoemaker M.J., Schottker B., Schurmann P., Scott C., Scott R.J., Senter L., Shah M., Sharma P., Shen C.-Y., Shu X.-O., Singer C.F., Slavin T.P., Smichkoska S., Spinelli J.J., Spurdle A.B., Sutter C., Swerdlow A.J., Tamimi R.M., Tan Y.Y., Tapper W.J., Taylor J., Teixeira M.R., Tengstrom M., Teo S.H., Terry M.B., Teule A., Thomassen M., Thull D.L., Toland A.E., Tollenaar R.A.E.M., Tomlinson I., Torres D., Torres-Mejia G., Troester M.A., Truong T., Tung N., Tzardi M., Ulmer H.-U., Vachon C.M., van der Kolk L.E., van Rensburg E.J., Vega A., Viel A., Vijai J., Vogel M.J., Wang Q., Wappenschmidt B., Weinberg C.R., Weitzel J.N., Wendt C., Wildiers H., Winqvist R., Wolk A., Wu A.H., Yannoukakos D., Zhang Y., Zheng W., Hunter D., Pharoah P.D.P., Chang-Claude J., Garcia-Closas M., Schmidt M.K., Kristensen V.N., French J.D., Antoniou A.C., Chenevix-Trench G., Simard J., Easton D.F., Kraft P., Allen J., Harris M., Fachal L., Aschard H., Beesley J., Barnes D.R., Kar S., Pooley K.A., Dennis J., Michailidou K., Turman C., Soucy P., Lemacon A., Lush M., Tyrer J.P., Ghoussaini M., Marjaneh M.M., Jiang X., Agata S., Aittomaki K., Alonso M.R., Andrulis I.L., Anton-Culver H., Antonenkova N.N., Arason A., Arndt V., Aronson K.J., Arun B.K., Auber B., Auer P.L., Azzollini J., Balmana J., Barkardottir R.B., Barrowdale D., Beeghly-Fadiel A., Benitez J., Bermisheva M., Bialkowska K., Blanco A.M., Blomqvist C., Blot W., Bogdanova N.V., Bojesen S.E., Bolla M.K., Bonanni B., Borg A., Bosse K., Brauch H., Brenner H., Briceno I., Brock I.W., Brooks-Wilson A., Bruning T., Burwinkel B., Buys S.S., Cai Q., Caldes T., Caligo M.A., Camp N.J., Campbell I., Carter B.D., Castelao J.E., Chiquette J., Christiansen H., Chung W.K., Claes K.B.M., Clarke C.L., Mari V., Berthet P., Castera L., Vaur D., Lallaoui H., Bignon Y.-J., Uhrhammer N., Bonadona V., Lasset C., Revillion F., Vennin P., Muller D., Gomes D.M., Ingster O., Coupier I., Pujol P., Collonge-Rame M.-A., Mortemousque I., Bera O., Rose M., Baurand A., Bertolone G., Faivre L., Dreyfus H., Leroux D., Venat-Bouvet L., Bezieau S., Delnatte C., Chiesa J., Gilbert-Dussardier B., Gesta P., Prieur F.P., Bronner M., Sokolowska J., Coulet F., Boutry-Kryza N., Calender A., Giraud S., Leone M., Fert-Ferrer S., Stoppa-Lyonnet D., Jiao Y., Lesueur F.L., Mebirouk N., Barouk-Simonet E., Bubien V., Longy M., Sevenet N., Gladieff L., Toulas C., Reimineras A., Sobol H., Paillerets B.B.-D., Cabaret O., Caron O., Guillaud-Bataille M., Rouleau E., Belotti M., Buecher B., Caputo S., Colas C., Pauw A.D., Fourme E., Gauthier-Villars M., Golmard L., Moncoutier V., Saule C., Donaldson A., Murray A., Brady A., Brewer C., Pottinger C., Miller C., Gallagher D., Gregory H., Cook J., Eason J., Adlard J., Barwell J., Ong K.-R., Snape K., Walker L., Izatt L., Side L., Tischkowitz M., Rogers M.T., Porteous M.E., Ahmed M., Morrison P.J., Brennan P., Eeles R., Davidson R., Collee J.M., Cornelissen S., Couch F.J., Cox A., Cross S.S., Cybulski C., Czene K., Daly M.B., de la Hoya M., Devilee P., Diez O., Ding Y.C., Dite G.S., Domchek S.M., Dork T., dos-Santos-Silva I., Droit A., Dubois S., Dumont M., Duran M., Durcan L., Dwek M., Eccles D.M., Engel C., Eriksson M., Evans D.G., Fasching P.A., Fletcher O., Floris G., Flyger H., Foretova L., Foulkes W.D., Friedman E., Fritschi L., Frost D., Gabrielson M., Gago-Dominguez M., Gambino G., Ganz P.A., Gapstur S.M., Garber J., Garcia-Saenz J.A., Gaudet M.M., Georgoulias V., Giles G., Glendon G., Godwin A.K., Goldberg M.S., Goldgar D.E., Gonzalez-Neira A., Tibiletti M.G., Greene M.H., Grip M., Gronwald J., Grundy A., Guenel P., Hahnen E., Haiman C.A., Hakansson N., Hall P., Hamann U., Harrington P.A., Hartikainen J.M., Hartman M., He W., Healey C.S., Heemskerk-Gerritsen B.A.M., Heyworth J., Hillemanns P., Hogervorst F.B.L., Hollestelle A., Hooning M., Hopper J., Howell A., Huang G., Hulick P.J., Imyanitov E.N., Sexton A., Christian A., Trainer A., Spigelman A., Fellows A., Shelling A., Fazio A.D., Blackburn A., Crook A., Meiser B., Patterson B., Clarke C., Saunders C., Hunt C., Amor D., Marsh D., Edkins E., Salisbury E., Haan E., Neidermayr E., Macrea F., Farshid G., Lindeman G., Trench G., Mann G., Gill G., Thorne H., Hickie I., Winship I., Flanagan J., Kollias J., Visvader J., Stone J., Burke J., Saunus J., Forbes J., French J., Tucker K., Wu K., Phillips K., Lipton L., Andrews L., Lobb L., Kentwell M., Spurdle M., Cummings M., Gleeson M., Jenkins M., Young M.A., Delatycki M., Wallis M., Burgess M., Price M., Brown M., Southey M., Bogwitz M., Field M., Friedlander M., Gattas M., Saleh M., Hayward N., Pachter N., Cohen P., Duijf P., James P., Simpson P., Fong P., Butow P., Williams R., Kefford R., Scott R., Milne R.L., Balleine R., Dawson S.-J., Lok S., O'Connell S., Greening S., Nightingale S., Edwards S., Fox S., McLachlan S.-A., Lakhani S., Antill Y., Aalfs C., Meijers-Heijboer H., van Engelen K., Gille H., Boere I., Collee M., van Deurzen C., Obdeijn I.-M., van den Ouweland A., Seynaeve C., Siesling S., Verloop J., van Asperen C., van Cronenburg T., Blok R., de Boer M., Garcia E.G., Adank M., Hogervorst F., Jenner D., van Leeuwen F., Rookus M., Russell N., Schmidt M., van den Belt-Dusebout S., Kets C., Mensenkamp A., de Bock T., van der Hout A., Mourits M., Oosterwijk J., Ausems M., Koudijs M., Baxter R., Yip D., Carpenter J., Davis A., Pathmanathan N., Graham D., Sachchithananthan M., Isaacs C., Iwasaki M., Jager A., Jakimovska M., Jakubowska A., Janavicius R., Jankowitz R.C., John E.M., Johnson N., Jones M.E., Jukkola-Vuorinen A., Jung A., Kaaks R., Kang D., Kapoor P.M., Karlan B.Y., Keeman R., Kerin M.J., Khusnutdinova E., Kiiski J.I., Kirk J., Kitahara C.M., Ko Y.-D., Konstantopoulou I., Kosma V.-M., Koutros S., Kubelka-Sabit K., Kwong A., Kyriacou K., Laitman Y., Lambrechts D., Lee E., Leslie G., Lester J., Lesueur F., Lindblom A., Lo W.-Y., Long J., Lophatananon A., Loud J.T., Lubinski J., MacInnis R.J., Maishman T., Makalic E., Mannermaa A., Manoochehri M., Manoukian S., Margolin S., Martinez M.E., Matsuo K., Maurer T., Mavroudis D., Mayes R., McGuffog L., McLean C., Meindl A., Miller A., Miller N., Montagna M., Moreno F., Muir K., Mulligan A.M., Munoz-Garzon V.M., Muranen T.A., Narod S.A., Nassir R., Nathanson K.L., Neuhausen S.L., Nevanlinna H., Neven P., Nielsen F.C., Nikitina-Zake L., Norman A., Offit K., Olah E., Olopade O.I., Olsson H., Orr N., Osorio A., Pankratz V.S., Papp J., Park S.K., Park-Simon T.-W., Parsons M.T., Paul J., Pedersen I.S., Peissel B., Peshkin B., Peterlongo P., Peto J., Plaseska-Karanfilska D., Prajzendanc K., Prentice R., Presneau N., Prokofyeva D., Pujana M.A., Pylkas K., Radice P., Canzian F., Rantala J., Rau-Murthy R., Rennert G., Risch H.A., Robson M., Romero A., Rossing M., Saloustros E., Sanchez-Herrero E., Sandler D.P., Santamarina M., Sawyer E.J., Scheuner M.T., Schmidt D.F., Schmutzler R.K., Ramus S.J., Carroll J.S., Schneeweiss A., Schoemaker M.J., Schottker B., Schurmann P., Scott C., Scott R.J., Senter L., Shah M., Sharma P., Shen C.-Y., Shu X.-O., Singer C.F., Slavin T.P., Smichkoska S., Spinelli J.J., Spurdle A.B., Sutter C., Swerdlow A.J., Tamimi R.M., Tan Y.Y., Tapper W.J., Taylor J., Teixeira M.R., Tengstrom M., Teo S.H., Terry M.B., Teule A., Thomassen M., Thull D.L., Toland A.E., Tollenaar R.A.E.M., Tomlinson I., Torres D., Torres-Mejia G., Troester M.A., Truong T., Tung N., Tzardi M., Ulmer H.-U., Vachon C.M., van der Kolk L.E., van Rensburg E.J., Vega A., Viel A., Vijai J., Vogel M.J., Wang Q., Wappenschmidt B., Weinberg C.R., Weitzel J.N., Wendt C., Wildiers H., Winqvist R., Wolk A., Wu A.H., Yannoukakos D., Zhang Y., Zheng W., Hunter D., Pharoah P.D.P., Chang-Claude J., Garcia-Closas M., Schmidt M.K., Kristensen V.N., French J.D., Antoniou A.C., Chenevix-Trench G., Simard J., Easton D.F., Kraft P., Allen J., Harris M., Fachal L., Aschard H., Beesley J., Barnes D.R., Kar S., Pooley K.A., Dennis J., Michailidou K., Turman C., Soucy P., Lemacon A., Lush M., Tyrer J.P., Ghoussaini M., Marjaneh M.M., Jiang X., Agata S., Aittomaki K., Alonso M.R., Andrulis I.L., Anton-Culver H., Antonenkova N.N., Arason A., Arndt V., Aronson K.J., Arun B.K., Auber B., Auer P.L., Azzollini J., Balmana J., Barkardottir R.B., Barrowdale D., Beeghly-Fadiel A., Benitez J., Bermisheva M., Bialkowska K., Blanco A.M., Blomqvist C., Blot W., Bogdanova N.V., Bojesen S.E., Bolla M.K., Bonanni B., Borg A., Bosse K., Brauch H., Brenner H., Briceno I., Brock I.W., Brooks-Wilson A., Bruning T., Burwinkel B., Buys S.S., Cai Q., Caldes T., Caligo M.A., Camp N.J., Campbell I., Carter B.D., Castelao J.E., Chiquette J., Christiansen H., Chung W.K., Claes K.B.M., Clarke C.L., Mari V., Berthet P., Castera L., Vaur D., Lallaoui H., Bignon Y.-J., Uhrhammer N., Bonadona V., Lasset C., Revillion F., Vennin P., Muller D., Gomes D.M., Ingster O., Coupier I., Pujol P., Collonge-Rame M.-A., Mortemousque I., Bera O., Rose M., Baurand A., Bertolone G., Faivre L., Dreyfus H., Leroux D., Venat-Bouvet L., Bezieau S., Delnatte C., Chiesa J., Gilbert-Dussardier B., Gesta P., Prieur F.P., Bronner M., Sokolowska J., Coulet F., Boutry-Kryza N., Calender A., Giraud S., Leone M., Fert-Ferrer S., Stoppa-Lyonnet D., Jiao Y., Lesueur F.L., Mebirouk N., Barouk-Simonet E., Bubien V., Longy M., Sevenet N., Gladieff L., Toulas C., Reimineras A., Sobol H., Paillerets B.B.-D., Cabaret O., Caron O., Guillaud-Bataille M., Rouleau E., Belotti M., Buecher B., Caputo S., Colas C., Pauw A.D., Fourme E., Gauthier-Villars M., Golmard L., Moncoutier V., Saule C., Donaldson A., Murray A., Brady A., Brewer C., Pottinger C., Miller C., Gallagher D., Gregory H., Cook J., Eason J., Adlard J., Barwell J., Ong K.-R., Snape K., Walker L., Izatt L., Side L., Tischkowitz M., Rogers M.T., Porteous M.E., Ahmed M., Morrison P.J., Brennan P., Eeles R., Davidson R., Collee J.M., Cornelissen S., Couch F.J., Cox A., Cross S.S., Cybulski C., Czene K., Daly M.B., de la Hoya M., Devilee P., Diez O., Ding Y.C., Dite G.S., Domchek S.M., Dork T., dos-Santos-Silva I., Droit A., Dubois S., Dumont M., Duran M., Durcan L., Dwek M., Eccles D.M., Engel C., Eriksson M., Evans D.G., Fasching P.A., Fletcher O., Floris G., Flyger H., Foretova L., Foulkes W.D., Friedman E., Fritschi L., Frost D., Gabrielson M., Gago-Dominguez M., Gambino G., Ganz P.A., Gapstur S.M., Garber J., Garcia-Saenz J.A., Gaudet M.M., Georgoulias V., Giles G., Glendon G., Godwin A.K., Goldberg M.S., Goldgar D.E., Gonzalez-Neira A., Tibiletti M.G., Greene M.H., Grip M., Gronwald J., Grundy A., Guenel P., Hahnen E., Haiman C.A., Hakansson N., Hall P., Hamann U., Harrington P.A., Hartikainen J.M., Hartman M., He W., Healey C.S., Heemskerk-Gerritsen B.A.M., Heyworth J., Hillemanns P., Hogervorst F.B.L., Hollestelle A., Hooning M., Hopper J., Howell A., Huang G., Hulick P.J., Imyanitov E.N., Sexton A., Christian A., Trainer A., Spigelman A., Fellows A., Shelling A., Fazio A.D., Blackburn A., Crook A., Meiser B., Patterson B., Clarke C., Saunders C., Hunt C., Amor D., Marsh D., Edkins E., Salisbury E., Haan E., Neidermayr E., Macrea F., Farshid G., Lindeman G., Trench G., Mann G., Gill G., Thorne H., Hickie I., Winship I., Flanagan J., Kollias J., Visvader J., Stone J., Burke J., Saunus J., Forbes J., French J., Tucker K., Wu K., Phillips K., Lipton L., Andrews L., Lobb L., Kentwell M., Spurdle M., Cummings M., Gleeson M., Jenkins M., Young M.A., Delatycki M., Wallis M., Burgess M., Price M., Brown M., Southey M., Bogwitz M., Field M., Friedlander M., Gattas M., Saleh M., Hayward N., Pachter N., Cohen P., Duijf P., James P., Simpson P., Fong P., Butow P., Williams R., Kefford R., Scott R., Milne R.L., Balleine R., Dawson S.-J., Lok S., O'Connell S., Greening S., Nightingale S., Edwards S., Fox S., McLachlan S.-A., Lakhani S., Antill Y., Aalfs C., Meijers-Heijboer H., van Engelen K., Gille H., Boere I., Collee M., van Deurzen C., Obdeijn I.-M., van den Ouweland A., Seynaeve C., Siesling S., Verloop J., van Asperen C., van Cronenburg T., Blok R., de Boer M., Garcia E.G., Adank M., Hogervorst F., Jenner D., van Leeuwen F., Rookus M., Russell N., Schmidt M., van den Belt-Dusebout S., Kets C., Mensenkamp A., de Bock T., van der Hout A., Mourits M., Oosterwijk J., Ausems M., Koudijs M., Baxter R., Yip D., Carpenter J., Davis A., Pathmanathan N., Graham D., Sachchithananthan M., Isaacs C., Iwasaki M., Jager A., Jakimovska M., Jakubowska A., Janavicius R., Jankowitz R.C., John E.M., Johnson N., Jones M.E., Jukkola-Vuorinen A., Jung A., Kaaks R., Kang D., Kapoor P.M., Karlan B.Y., Keeman R., Kerin M.J., Khusnutdinova E., Kiiski J.I., Kirk J., Kitahara C.M., Ko Y.-D., Konstantopoulou I., Kosma V.-M., Koutros S., Kubelka-Sabit K., Kwong A., Kyriacou K., Laitman Y., Lambrechts D., Lee E., Leslie G., Lester J., Lesueur F., Lindblom A., Lo W.-Y., Long J., Lophatananon A., Loud J.T., Lubinski J., MacInnis R.J., Maishman T., Makalic E., Mannermaa A., Manoochehri M., Manoukian S., Margolin S., Martinez M.E., Matsuo K., Maurer T., Mavroudis D., Mayes R., McGuffog L., McLean C., Meindl A., Miller A., Miller N., Montagna M., Moreno F., Muir K., Mulligan A.M., Munoz-Garzon V.M., Muranen T.A., Narod S.A., Nassir R., Nathanson K.L., Neuhausen S.L., Nevanlinna H., Neven P., Nielsen F.C., Nikitina-Zake L., Norman A., Offit K., Olah E., Olopade O.I., Olsson H., Orr N., Osorio A., Pankratz V.S., Papp J., Park S.K., Park-Simon T.-W., Parsons M.T., Paul J., Pedersen I.S., Peissel B., Peshkin B., Peterlongo P., Peto J., Plaseska-Karanfilska D., Prajzendanc K., Prentice R., Presneau N., Prokofyeva D., Pujana M.A., Pylkas K., Radice P., Canzian F., Rantala J., Rau-Murthy R., Rennert G., Risch H.A., Robson M., Romero A., Rossing M., Saloustros E., Sanchez-Herrero E., Sandler D.P., Santamarina M., Sawyer E.J., Scheuner M.T., Schmidt D.F., and Schmutzler R.K.

Abstract

Genome-wide association studies have identified breast cancer risk variants in over 150 genomic regions, but the mechanisms underlying risk remain largely unknown. These regions were explored by combining association analysis with in silico genomic feature annotations. We defined 205 independent risk-associated signals with the set of credible causal variants in each one. In parallel, we used a Bayesian approach (PAINTOR) that combines genetic association, linkage disequilibrium and enriched genomic features to determine variants with high posterior probabilities of being causal. Potentially causal variants were significantly over-represented in active gene regulatory regions and transcription factor binding sites. We applied our INQUSIT pipeline for prioritizing genes as targets of those potentially causal variants, using gene expression (expression quantitative trait loci), chromatin interaction and functional annotations. Known cancer drivers, transcription factors and genes in the developmental, apoptosis, immune system and DNA integrity checkpoint gene ontology pathways were over-represented among the highest-confidence target genes.Copyright © 2020, The Author(s), under exclusive licence to Springer Nature America, Inc.

Published
2020

3. Fine-mapping of 150 breast cancer risk regions identifies 191 likely target genes.

Author

Ramus S.J., Carroll J.S., Schneeweiss A., Schoemaker M.J., Schottker B., Schurmann P., Scott C., Scott R.J., Senter L., Shah M., Sharma P., Shen C.-Y., Shu X.-O., Singer C.F., Slavin T.P., Smichkoska S., Spinelli J.J., Spurdle A.B., Sutter C., Swerdlow A.J., Tamimi R.M., Tan Y.Y., Tapper W.J., Taylor J., Teixeira M.R., Tengstrom M., Teo S.H., Terry M.B., Teule A., Thomassen M., Thull D.L., Toland A.E., Tollenaar R.A.E.M., Tomlinson I., Torres D., Torres-Mejia G., Troester M.A., Truong T., Tung N., Tzardi M., Ulmer H.-U., Vachon C.M., van der Kolk L.E., van Rensburg E.J., Vega A., Viel A., Vijai J., Vogel M.J., Wang Q., Wappenschmidt B., Weinberg C.R., Weitzel J.N., Wendt C., Wildiers H., Winqvist R., Wolk A., Wu A.H., Yannoukakos D., Zhang Y., Zheng W., Hunter D., Pharoah P.D.P., Chang-Claude J., Garcia-Closas M., Schmidt M.K., Kristensen V.N., French J.D., Antoniou A.C., Chenevix-Trench G., Simard J., Easton D.F., Kraft P., Allen J., Harris M., Fachal L., Aschard H., Beesley J., Barnes D.R., Kar S., Pooley K.A., Dennis J., Michailidou K., Turman C., Soucy P., Lemacon A., Lush M., Tyrer J.P., Ghoussaini M., Marjaneh M.M., Jiang X., Agata S., Aittomaki K., Alonso M.R., Andrulis I.L., Anton-Culver H., Antonenkova N.N., Arason A., Arndt V., Aronson K.J., Arun B.K., Auber B., Auer P.L., Azzollini J., Balmana J., Barkardottir R.B., Barrowdale D., Beeghly-Fadiel A., Benitez J., Bermisheva M., Bialkowska K., Blanco A.M., Blomqvist C., Blot W., Bogdanova N.V., Bojesen S.E., Bolla M.K., Bonanni B., Borg A., Bosse K., Brauch H., Brenner H., Briceno I., Brock I.W., Brooks-Wilson A., Bruning T., Burwinkel B., Buys S.S., Cai Q., Caldes T., Caligo M.A., Camp N.J., Campbell I., Carter B.D., Castelao J.E., Chiquette J., Christiansen H., Chung W.K., Claes K.B.M., Clarke C.L., Mari V., Berthet P., Castera L., Vaur D., Lallaoui H., Bignon Y.-J., Uhrhammer N., Bonadona V., Lasset C., Revillion F., Vennin P., Muller D., Gomes D.M., Ingster O., Coupier I., Pujol P., Collonge-Rame M.-A., Mortemousque I., Bera O., Rose M., Baurand A., Bertolone G., Faivre L., Dreyfus H., Leroux D., Venat-Bouvet L., Bezieau S., Delnatte C., Chiesa J., Gilbert-Dussardier B., Gesta P., Prieur F.P., Bronner M., Sokolowska J., Coulet F., Boutry-Kryza N., Calender A., Giraud S., Leone M., Fert-Ferrer S., Stoppa-Lyonnet D., Jiao Y., Lesueur F.L., Mebirouk N., Barouk-Simonet E., Bubien V., Longy M., Sevenet N., Gladieff L., Toulas C., Reimineras A., Sobol H., Paillerets B.B.-D., Cabaret O., Caron O., Guillaud-Bataille M., Rouleau E., Belotti M., Buecher B., Caputo S., Colas C., Pauw A.D., Fourme E., Gauthier-Villars M., Golmard L., Moncoutier V., Saule C., Donaldson A., Murray A., Brady A., Brewer C., Pottinger C., Miller C., Gallagher D., Gregory H., Cook J., Eason J., Adlard J., Barwell J., Ong K.-R., Snape K., Walker L., Izatt L., Side L., Tischkowitz M., Rogers M.T., Porteous M.E., Ahmed M., Morrison P.J., Brennan P., Eeles R., Davidson R., Collee J.M., Cornelissen S., Couch F.J., Cox A., Cross S.S., Cybulski C., Czene K., Daly M.B., de la Hoya M., Devilee P., Diez O., Ding Y.C., Dite G.S., Domchek S.M., Dork T., dos-Santos-Silva I., Droit A., Dubois S., Dumont M., Duran M., Durcan L., Dwek M., Eccles D.M., Engel C., Eriksson M., Evans D.G., Fasching P.A., Fletcher O., Floris G., Flyger H., Foretova L., Foulkes W.D., Friedman E., Fritschi L., Frost D., Gabrielson M., Gago-Dominguez M., Gambino G., Ganz P.A., Gapstur S.M., Garber J., Garcia-Saenz J.A., Gaudet M.M., Georgoulias V., Giles G., Glendon G., Godwin A.K., Goldberg M.S., Goldgar D.E., Gonzalez-Neira A., Tibiletti M.G., Greene M.H., Grip M., Gronwald J., Grundy A., Guenel P., Hahnen E., Haiman C.A., Hakansson N., Hall P., Hamann U., Harrington P.A., Hartikainen J.M., Hartman M., He W., Healey C.S., Heemskerk-Gerritsen B.A.M., Heyworth J., Hillemanns P., Hogervorst F.B.L., Hollestelle A., Hooning M., Hopper J., Howell A., Huang G., Hulick P.J., Imyanitov E.N., Sexton A., Christian A., Trainer A., Spigelman A., Fellows A., Shelling A., Fazio A.D., Blackburn A., Crook A., Meiser B., Patterson B., Clarke C., Saunders C., Hunt C., Amor D., Marsh D., Edkins E., Salisbury E., Haan E., Neidermayr E., Macrea F., Farshid G., Lindeman G., Trench G., Mann G., Gill G., Thorne H., Hickie I., Winship I., Flanagan J., Kollias J., Visvader J., Stone J., Burke J., Saunus J., Forbes J., French J., Tucker K., Wu K., Phillips K., Lipton L., Andrews L., Lobb L., Kentwell M., Spurdle M., Cummings M., Gleeson M., Jenkins M., Young M.A., Delatycki M., Wallis M., Burgess M., Price M., Brown M., Southey M., Bogwitz M., Field M., Friedlander M., Gattas M., Saleh M., Hayward N., Pachter N., Cohen P., Duijf P., James P., Simpson P., Fong P., Butow P., Williams R., Kefford R., Scott R., Milne R.L., Balleine R., Dawson S.-J., Lok S., O'Connell S., Greening S., Nightingale S., Edwards S., Fox S., McLachlan S.-A., Lakhani S., Antill Y., Aalfs C., Meijers-Heijboer H., van Engelen K., Gille H., Boere I., Collee M., van Deurzen C., Obdeijn I.-M., van den Ouweland A., Seynaeve C., Siesling S., Verloop J., van Asperen C., van Cronenburg T., Blok R., de Boer M., Garcia E.G., Adank M., Hogervorst F., Jenner D., van Leeuwen F., Rookus M., Russell N., Schmidt M., van den Belt-Dusebout S., Kets C., Mensenkamp A., de Bock T., van der Hout A., Mourits M., Oosterwijk J., Ausems M., Koudijs M., Baxter R., Yip D., Carpenter J., Davis A., Pathmanathan N., Graham D., Sachchithananthan M., Isaacs C., Iwasaki M., Jager A., Jakimovska M., Jakubowska A., Janavicius R., Jankowitz R.C., John E.M., Johnson N., Jones M.E., Jukkola-Vuorinen A., Jung A., Kaaks R., Kang D., Kapoor P.M., Karlan B.Y., Keeman R., Kerin M.J., Khusnutdinova E., Kiiski J.I., Kirk J., Kitahara C.M., Ko Y.-D., Konstantopoulou I., Kosma V.-M., Koutros S., Kubelka-Sabit K., Kwong A., Kyriacou K., Laitman Y., Lambrechts D., Lee E., Leslie G., Lester J., Lesueur F., Lindblom A., Lo W.-Y., Long J., Lophatananon A., Loud J.T., Lubinski J., MacInnis R.J., Maishman T., Makalic E., Mannermaa A., Manoochehri M., Manoukian S., Margolin S., Martinez M.E., Matsuo K., Maurer T., Mavroudis D., Mayes R., McGuffog L., McLean C., Meindl A., Miller A., Miller N., Montagna M., Moreno F., Muir K., Mulligan A.M., Munoz-Garzon V.M., Muranen T.A., Narod S.A., Nassir R., Nathanson K.L., Neuhausen S.L., Nevanlinna H., Neven P., Nielsen F.C., Nikitina-Zake L., Norman A., Offit K., Olah E., Olopade O.I., Olsson H., Orr N., Osorio A., Pankratz V.S., Papp J., Park S.K., Park-Simon T.-W., Parsons M.T., Paul J., Pedersen I.S., Peissel B., Peshkin B., Peterlongo P., Peto J., Plaseska-Karanfilska D., Prajzendanc K., Prentice R., Presneau N., Prokofyeva D., Pujana M.A., Pylkas K., Radice P., Canzian F., Rantala J., Rau-Murthy R., Rennert G., Risch H.A., Robson M., Romero A., Rossing M., Saloustros E., Sanchez-Herrero E., Sandler D.P., Santamarina M., Sawyer E.J., Scheuner M.T., Schmidt D.F., Schmutzler R.K., Ramus S.J., Carroll J.S., Schneeweiss A., Schoemaker M.J., Schottker B., Schurmann P., Scott C., Scott R.J., Senter L., Shah M., Sharma P., Shen C.-Y., Shu X.-O., Singer C.F., Slavin T.P., Smichkoska S., Spinelli J.J., Spurdle A.B., Sutter C., Swerdlow A.J., Tamimi R.M., Tan Y.Y., Tapper W.J., Taylor J., Teixeira M.R., Tengstrom M., Teo S.H., Terry M.B., Teule A., Thomassen M., Thull D.L., Toland A.E., Tollenaar R.A.E.M., Tomlinson I., Torres D., Torres-Mejia G., Troester M.A., Truong T., Tung N., Tzardi M., Ulmer H.-U., Vachon C.M., van der Kolk L.E., van Rensburg E.J., Vega A., Viel A., Vijai J., Vogel M.J., Wang Q., Wappenschmidt B., Weinberg C.R., Weitzel J.N., Wendt C., Wildiers H., Winqvist R., Wolk A., Wu A.H., Yannoukakos D., Zhang Y., Zheng W., Hunter D., Pharoah P.D.P., Chang-Claude J., Garcia-Closas M., Schmidt M.K., Kristensen V.N., French J.D., Antoniou A.C., Chenevix-Trench G., Simard J., Easton D.F., Kraft P., Allen J., Harris M., Fachal L., Aschard H., Beesley J., Barnes D.R., Kar S., Pooley K.A., Dennis J., Michailidou K., Turman C., Soucy P., Lemacon A., Lush M., Tyrer J.P., Ghoussaini M., Marjaneh M.M., Jiang X., Agata S., Aittomaki K., Alonso M.R., Andrulis I.L., Anton-Culver H., Antonenkova N.N., Arason A., Arndt V., Aronson K.J., Arun B.K., Auber B., Auer P.L., Azzollini J., Balmana J., Barkardottir R.B., Barrowdale D., Beeghly-Fadiel A., Benitez J., Bermisheva M., Bialkowska K., Blanco A.M., Blomqvist C., Blot W., Bogdanova N.V., Bojesen S.E., Bolla M.K., Bonanni B., Borg A., Bosse K., Brauch H., Brenner H., Briceno I., Brock I.W., Brooks-Wilson A., Bruning T., Burwinkel B., Buys S.S., Cai Q., Caldes T., Caligo M.A., Camp N.J., Campbell I., Carter B.D., Castelao J.E., Chiquette J., Christiansen H., Chung W.K., Claes K.B.M., Clarke C.L., Mari V., Berthet P., Castera L., Vaur D., Lallaoui H., Bignon Y.-J., Uhrhammer N., Bonadona V., Lasset C., Revillion F., Vennin P., Muller D., Gomes D.M., Ingster O., Coupier I., Pujol P., Collonge-Rame M.-A., Mortemousque I., Bera O., Rose M., Baurand A., Bertolone G., Faivre L., Dreyfus H., Leroux D., Venat-Bouvet L., Bezieau S., Delnatte C., Chiesa J., Gilbert-Dussardier B., Gesta P., Prieur F.P., Bronner M., Sokolowska J., Coulet F., Boutry-Kryza N., Calender A., Giraud S., Leone M., Fert-Ferrer S., Stoppa-Lyonnet D., Jiao Y., Lesueur F.L., Mebirouk N., Barouk-Simonet E., Bubien V., Longy M., Sevenet N., Gladieff L., Toulas C., Reimineras A., Sobol H., Paillerets B.B.-D., Cabaret O., Caron O., Guillaud-Bataille M., Rouleau E., Belotti M., Buecher B., Caputo S., Colas C., Pauw A.D., Fourme E., Gauthier-Villars M., Golmard L., Moncoutier V., Saule C., Donaldson A., Murray A., Brady A., Brewer C., Pottinger C., Miller C., Gallagher D., Gregory H., Cook J., Eason J., Adlard J., Barwell J., Ong K.-R., Snape K., Walker L., Izatt L., Side L., Tischkowitz M., Rogers M.T., Porteous M.E., Ahmed M., Morrison P.J., Brennan P., Eeles R., Davidson R., Collee J.M., Cornelissen S., Couch F.J., Cox A., Cross S.S., Cybulski C., Czene K., Daly M.B., de la Hoya M., Devilee P., Diez O., Ding Y.C., Dite G.S., Domchek S.M., Dork T., dos-Santos-Silva I., Droit A., Dubois S., Dumont M., Duran M., Durcan L., Dwek M., Eccles D.M., Engel C., Eriksson M., Evans D.G., Fasching P.A., Fletcher O., Floris G., Flyger H., Foretova L., Foulkes W.D., Friedman E., Fritschi L., Frost D., Gabrielson M., Gago-Dominguez M., Gambino G., Ganz P.A., Gapstur S.M., Garber J., Garcia-Saenz J.A., Gaudet M.M., Georgoulias V., Giles G., Glendon G., Godwin A.K., Goldberg M.S., Goldgar D.E., Gonzalez-Neira A., Tibiletti M.G., Greene M.H., Grip M., Gronwald J., Grundy A., Guenel P., Hahnen E., Haiman C.A., Hakansson N., Hall P., Hamann U., Harrington P.A., Hartikainen J.M., Hartman M., He W., Healey C.S., Heemskerk-Gerritsen B.A.M., Heyworth J., Hillemanns P., Hogervorst F.B.L., Hollestelle A., Hooning M., Hopper J., Howell A., Huang G., Hulick P.J., Imyanitov E.N., Sexton A., Christian A., Trainer A., Spigelman A., Fellows A., Shelling A., Fazio A.D., Blackburn A., Crook A., Meiser B., Patterson B., Clarke C., Saunders C., Hunt C., Amor D., Marsh D., Edkins E., Salisbury E., Haan E., Neidermayr E., Macrea F., Farshid G., Lindeman G., Trench G., Mann G., Gill G., Thorne H., Hickie I., Winship I., Flanagan J., Kollias J., Visvader J., Stone J., Burke J., Saunus J., Forbes J., French J., Tucker K., Wu K., Phillips K., Lipton L., Andrews L., Lobb L., Kentwell M., Spurdle M., Cummings M., Gleeson M., Jenkins M., Young M.A., Delatycki M., Wallis M., Burgess M., Price M., Brown M., Southey M., Bogwitz M., Field M., Friedlander M., Gattas M., Saleh M., Hayward N., Pachter N., Cohen P., Duijf P., James P., Simpson P., Fong P., Butow P., Williams R., Kefford R., Scott R., Milne R.L., Balleine R., Dawson S.-J., Lok S., O'Connell S., Greening S., Nightingale S., Edwards S., Fox S., McLachlan S.-A., Lakhani S., Antill Y., Aalfs C., Meijers-Heijboer H., van Engelen K., Gille H., Boere I., Collee M., van Deurzen C., Obdeijn I.-M., van den Ouweland A., Seynaeve C., Siesling S., Verloop J., van Asperen C., van Cronenburg T., Blok R., de Boer M., Garcia E.G., Adank M., Hogervorst F., Jenner D., van Leeuwen F., Rookus M., Russell N., Schmidt M., van den Belt-Dusebout S., Kets C., Mensenkamp A., de Bock T., van der Hout A., Mourits M., Oosterwijk J., Ausems M., Koudijs M., Baxter R., Yip D., Carpenter J., Davis A., Pathmanathan N., Graham D., Sachchithananthan M., Isaacs C., Iwasaki M., Jager A., Jakimovska M., Jakubowska A., Janavicius R., Jankowitz R.C., John E.M., Johnson N., Jones M.E., Jukkola-Vuorinen A., Jung A., Kaaks R., Kang D., Kapoor P.M., Karlan B.Y., Keeman R., Kerin M.J., Khusnutdinova E., Kiiski J.I., Kirk J., Kitahara C.M., Ko Y.-D., Konstantopoulou I., Kosma V.-M., Koutros S., Kubelka-Sabit K., Kwong A., Kyriacou K., Laitman Y., Lambrechts D., Lee E., Leslie G., Lester J., Lesueur F., Lindblom A., Lo W.-Y., Long J., Lophatananon A., Loud J.T., Lubinski J., MacInnis R.J., Maishman T., Makalic E., Mannermaa A., Manoochehri M., Manoukian S., Margolin S., Martinez M.E., Matsuo K., Maurer T., Mavroudis D., Mayes R., McGuffog L., McLean C., Meindl A., Miller A., Miller N., Montagna M., Moreno F., Muir K., Mulligan A.M., Munoz-Garzon V.M., Muranen T.A., Narod S.A., Nassir R., Nathanson K.L., Neuhausen S.L., Nevanlinna H., Neven P., Nielsen F.C., Nikitina-Zake L., Norman A., Offit K., Olah E., Olopade O.I., Olsson H., Orr N., Osorio A., Pankratz V.S., Papp J., Park S.K., Park-Simon T.-W., Parsons M.T., Paul J., Pedersen I.S., Peissel B., Peshkin B., Peterlongo P., Peto J., Plaseska-Karanfilska D., Prajzendanc K., Prentice R., Presneau N., Prokofyeva D., Pujana M.A., Pylkas K., Radice P., Canzian F., Rantala J., Rau-Murthy R., Rennert G., Risch H.A., Robson M., Romero A., Rossing M., Saloustros E., Sanchez-Herrero E., Sandler D.P., Santamarina M., Sawyer E.J., Scheuner M.T., Schmidt D.F., and Schmutzler R.K.

Abstract

Genome-wide association studies have identified breast cancer risk variants in over 150 genomic regions, but the mechanisms underlying risk remain largely unknown. These regions were explored by combining association analysis with in silico genomic feature annotations. We defined 205 independent risk-associated signals with the set of credible causal variants in each one. In parallel, we used a Bayesian approach (PAINTOR) that combines genetic association, linkage disequilibrium and enriched genomic features to determine variants with high posterior probabilities of being causal. Potentially causal variants were significantly over-represented in active gene regulatory regions and transcription factor binding sites. We applied our INQUSIT pipeline for prioritizing genes as targets of those potentially causal variants, using gene expression (expression quantitative trait loci), chromatin interaction and functional annotations. Known cancer drivers, transcription factors and genes in the developmental, apoptosis, immune system and DNA integrity checkpoint gene ontology pathways were over-represented among the highest-confidence target genes.Copyright © 2020, The Author(s), under exclusive licence to Springer Nature America, Inc.

Published
2020

4. Oral Contraceptive Use and Breast Cancer Risk: Retrospective and Prospective Analyses From a BRCA1 and BRCA2 Mutation Carrier Cohort Study

Author

Schrijver, Lieske H., Olsson, Hakan, Phillips, Kelly-Anne, Terry, Mary Beth, Goldgar, David E., Kast, Karin, Engel, Christoph, Mooij, Thea M., Adlard, Julian, Barrowdale, Daniel, Davidson, Rosemarie, Eeles, Ros, Ellis, Steve, Evans, D. Gareth, Frost, Debra, Izatt, Louise, Porteous, Mary E., Side, Lucy E., Walker, Lisa, Berthet, Pascaline, Bonadona, Val Erie, Leroux, Dominique, Mouret-Fourme, Emmanuelle, Venat-Bouvet, Laurence, Buys, Saundra S., Southey, Melissa C., John, Esther M., Chung, Wendy K., Daly, Mary B., Bane, Anita, van Asperen, Christi J., Garcia, Encarna B. Gomez, Mourits, Marian J. E., Roos-Blom, Marie-Jose, Friedlander, Michael L., McLachlan, Sue-Anne, Singer, Christian F., Foretova, Lenka, Gerdes, Anne-Marie, Caldes, Trinidad, Olah, Edith, Jakubowska, Anna, Nogues, Catherine, Andrieu, Nadine, Easton, Douglas F., van Leeuwen, Flora E., Hopper, John L., Milne, Roger L., Antoniou, Antonis C., Rookus, Matti A., Rookus, M. A., Hogervorst, F. B. L., van Leeuwen, F. E., Adank, M. A., Schmidt, M. K., Russell, N. S., de Lange, J. L., Wijnands, R., Jenner, D. J., Collee, J. M., van den Ouweland, A. M. W., Hooning, M. J., Seynaeve, C., van Deurzen, C. H. M., Obdeijn, I. M., van Asperen, C. J., Wijnen, J. T., Tollenaar, R. A. E. M., Devilee, P., van Cronenburg, T. C. T. E. F., Kets, C. M., Mensenkamp, A. R., Ausems, M. G. E. M., van der Luijt, R. B., van der Pol, C. C., Aalfs, C. M., Meijers-Heijboer, H. E. J., van Os, T. A. M., van Engelen, K., Gille, J. J. P., Waisfisz, Q., Gomez-Garcia, E. B., Blok, M. J., Oosterwijk, J. C., van der Hout, A. H., Mourits, M. J., de Bock, G. H., Siesling, S., Verloop, J., Overbeek, L. I. H., Schrijver, Lieske H., Olsson, Hakan, Phillips, Kelly-Anne, Terry, Mary Beth, Goldgar, David E., Kast, Karin, Engel, Christoph, Mooij, Thea M., Adlard, Julian, Barrowdale, Daniel, Davidson, Rosemarie, Eeles, Ros, Ellis, Steve, Evans, D. Gareth, Frost, Debra, Izatt, Louise, Porteous, Mary E., Side, Lucy E., Walker, Lisa, Berthet, Pascaline, Bonadona, Val Erie, Leroux, Dominique, Mouret-Fourme, Emmanuelle, Venat-Bouvet, Laurence, Buys, Saundra S., Southey, Melissa C., John, Esther M., Chung, Wendy K., Daly, Mary B., Bane, Anita, van Asperen, Christi J., Garcia, Encarna B. Gomez, Mourits, Marian J. E., Roos-Blom, Marie-Jose, Friedlander, Michael L., McLachlan, Sue-Anne, Singer, Christian F., Foretova, Lenka, Gerdes, Anne-Marie, Caldes, Trinidad, Olah, Edith, Jakubowska, Anna, Nogues, Catherine, Andrieu, Nadine, Easton, Douglas F., van Leeuwen, Flora E., Hopper, John L., Milne, Roger L., Antoniou, Antonis C., Rookus, Matti A., Rookus, M. A., Hogervorst, F. B. L., van Leeuwen, F. E., Adank, M. A., Schmidt, M. K., Russell, N. S., de Lange, J. L., Wijnands, R., Jenner, D. J., Collee, J. M., van den Ouweland, A. M. W., Hooning, M. J., Seynaeve, C., van Deurzen, C. H. M., Obdeijn, I. M., van Asperen, C. J., Wijnen, J. T., Tollenaar, R. A. E. M., Devilee, P., van Cronenburg, T. C. T. E. F., Kets, C. M., Mensenkamp, A. R., Ausems, M. G. E. M., van der Luijt, R. B., van der Pol, C. C., Aalfs, C. M., Meijers-Heijboer, H. E. J., van Os, T. A. M., van Engelen, K., Gille, J. J. P., Waisfisz, Q., Gomez-Garcia, E. B., Blok, M. J., Oosterwijk, J. C., van der Hout, A. H., Mourits, M. J., de Bock, G. H., Siesling, S., Verloop, J., and Overbeek, L. I. H.

Abstract

Background: For BRCA1 and BRCA2 mutation carriers, the association between oral contraceptive preparation (OCP) use and breast cancer (BC) risk is still unclear. Methods: Breast camcer risk associations were estimated from OCP data on 6030 BRCA1 and 3809 BRCA2 mutation carriers using age-dependent Cox regression, stratified by study and birth cohort. Prospective, left-truncated retrospective and full-cohort retrospective analyses were performed. Results: For BRCA1 mutation carriers, OCP use was not associated with BC risk in prospective analyses (hazard ratio [HR] = 1.08, 95% confidence interval [CI] = 0.75 to 1.56), but in the left-truncated and full-cohort retrospective analyses, risks were increased by 26% (95% CI = 6% to 51%) and 39% (95% CI = 23% to 58%), respectively. For BRCA2 mutation carriers, OCP use was associated with BC risk in prospective analyses (HR = 1.75, 95% CI = 1.03 to 2.97), but retrospective analyses were inconsistent (left-truncated: HR = 1.06, 95% CI = 0.85 to 1.33; full cohort: HR = 1.52, 95% CI = 1.28 to 1.81). There was evidence of increasing risk with duration of use, especially before the first full-term pregnancy (BRCA1: both retrospective analyses, P < .001 and P = .001, respectively; BRCA2: full retrospective analysis, P = .002). Conclusions: Prospective analyses did not show that past use of OCP is associated with an increased BC risk for BRCA1 mutation carriers in young middle-aged women (40-50 years). For BRCA2 mutation carriers, a causal association is also not likely at those ages. Findings between retrospective and prospective analyses were inconsistent and could be due to survival bias or a true association for younger women who were underrepresented in the prospective cohort. Given the uncertain safety of long-term OCP use for BRCA1/2 mutation carriers, indications other than contraception should be avoided and non-hormonal contraceptive methods should be discussed.

Published
2018

5. The Influence of Number and Timing of Pregnancies on Breast Cancer Risk for Women With BRCA1 or BRCA2 Mutations

Author

Terry, Mary Beth, Liao, Yuyan, Kast, Karin, Antoniou, Antonis C., McDonald, Jasmine A., Mooij, Thea M., Engel, Christoph, Nogues, Catherine, Buecher, Bruno, Mari, Veronique, Moretta-Serra, Jessica, Gladieff, Laurence, Luporsi, Elisabeth, Barrowdale, Daniel, Frost, Debra, Henderson, Alex, Brewer, Carole, Evans, D. Gareth, Eccles, Diana, Cook, Jackie, Ong, Kai-ren, Izatt, Louise, Ahmed, Munaza, Morrison, Patrick J., Dommering, Charlotte J., Oosterwijk, Jan C., Ausems, Margreet G. E. M., Kriege, Mieke, Buys, Saundra S., Andrulis, Irene L., John, Esther M., Daly, Mary, Friedlander, Michael, McLachlan, Sue Anne, Osorio, Ana, Caldes, Trinidad, Jakubowska, Anna, Simard, Jacques, Singer, Christian F., Tan, Yen, Olah, Edith, Navratilova, Marie, Foretova, Lenka, Gerdes, Anne-Marie, Roos-Blom, Marie-Jose, Arver, Brita, Olsson, Hakan, Schmutzler, Rita K., Hopper, John L., van Leeuwen, Flora E., Goldgar, David, Milne, Roger L., Easton, Douglas F., Rookus, Matti A., Andrieu, Nadine, Evans, Gareth, Adlard, Julian, Eeles, Ros, Davidson, Rosemarie, Tischkowitz, Marc, Snape, Katie, Walker, Lisa, Porteous, Mary, Donaldson, Alan, Morrison, Patrick, Eason, Jacqueline, Rogers, Mark, Miller, Claire, Brady, Angela, Kennedy, M. John, Barwell, Julian, Gregory, Helen, Pottinger, Caroline, Murray, Alex, Angelakos, Maggie, Dite, Gillian, Tsimiklis, Helen, Breysse, Emmanuel, Pontois, Pauline, Laborde, Lilian, Stoppa-Lyonnet, Dominique, Gauthier-Villars, Marion, Caron, Olivier, Fourme-Mouret, Emmanuelle, Fricker, Jean-Pierre, Lasset, Christine, Bonadona, Valerie, Fert-Ferrer, Sandra, Berthet, Pascaline, Venat-Bouvet, Laurence, Gilbert-Dussardier, Brigitte, Faivre, Laurence, Gesta, Paul, Sobol, Hagay, Eisinger, Francois, Longy, Michel, Dugast, Catherine, Coupier, Isabelle, Colas, Chrystelle, Soubrier, Florent, Pujol, Pascal, Corsini, Carole, Lortholary, Alain, Vennin, Philippe, Adenis, Claude, Penet, Clotilde, Delnatte, Capucine, Tinat, Julie, Tennevet, Isabelle, Limacher, Jean-Marc, Maugard, Christine, Demange, Liliane, Dreyfus, Helene, Cohen-Haguenauer, Odile, Leroux, Dominique, Zattara-Cannoni, Helene, Bera, Odile, Hogervorst, F. B. L., Adank, M. A., Schmidt, M. K., Russell, N. S., Jenner, D. J., Collee, J. M., van den Ouweland, A. M. W., Hooning, M. J., Seynaeve, C. M., van Deurzen, C. H. M., Obdeijn, I. M., van Asperen, C. J., Devilee, P., Kets, C. M., Mensenkamp, A. R., Koudijs, M. J., Aalfs, C. M., van Engelen, K., Gille, J. J. P., Gomez-Garcia, E. B., Blok, M. J., van der Hout, A. H., Mourits, M. J., de Bock, G. H., Siesling, S., Verloop, J., van den Belt-Dusebout, A. W., Terry, Mary Beth, Liao, Yuyan, Kast, Karin, Antoniou, Antonis C., McDonald, Jasmine A., Mooij, Thea M., Engel, Christoph, Nogues, Catherine, Buecher, Bruno, Mari, Veronique, Moretta-Serra, Jessica, Gladieff, Laurence, Luporsi, Elisabeth, Barrowdale, Daniel, Frost, Debra, Henderson, Alex, Brewer, Carole, Evans, D. Gareth, Eccles, Diana, Cook, Jackie, Ong, Kai-ren, Izatt, Louise, Ahmed, Munaza, Morrison, Patrick J., Dommering, Charlotte J., Oosterwijk, Jan C., Ausems, Margreet G. E. M., Kriege, Mieke, Buys, Saundra S., Andrulis, Irene L., John, Esther M., Daly, Mary, Friedlander, Michael, McLachlan, Sue Anne, Osorio, Ana, Caldes, Trinidad, Jakubowska, Anna, Simard, Jacques, Singer, Christian F., Tan, Yen, Olah, Edith, Navratilova, Marie, Foretova, Lenka, Gerdes, Anne-Marie, Roos-Blom, Marie-Jose, Arver, Brita, Olsson, Hakan, Schmutzler, Rita K., Hopper, John L., van Leeuwen, Flora E., Goldgar, David, Milne, Roger L., Easton, Douglas F., Rookus, Matti A., Andrieu, Nadine, Evans, Gareth, Adlard, Julian, Eeles, Ros, Davidson, Rosemarie, Tischkowitz, Marc, Snape, Katie, Walker, Lisa, Porteous, Mary, Donaldson, Alan, Morrison, Patrick, Eason, Jacqueline, Rogers, Mark, Miller, Claire, Brady, Angela, Kennedy, M. John, Barwell, Julian, Gregory, Helen, Pottinger, Caroline, Murray, Alex, Angelakos, Maggie, Dite, Gillian, Tsimiklis, Helen, Breysse, Emmanuel, Pontois, Pauline, Laborde, Lilian, Stoppa-Lyonnet, Dominique, Gauthier-Villars, Marion, Caron, Olivier, Fourme-Mouret, Emmanuelle, Fricker, Jean-Pierre, Lasset, Christine, Bonadona, Valerie, Fert-Ferrer, Sandra, Berthet, Pascaline, Venat-Bouvet, Laurence, Gilbert-Dussardier, Brigitte, Faivre, Laurence, Gesta, Paul, Sobol, Hagay, Eisinger, Francois, Longy, Michel, Dugast, Catherine, Coupier, Isabelle, Colas, Chrystelle, Soubrier, Florent, Pujol, Pascal, Corsini, Carole, Lortholary, Alain, Vennin, Philippe, Adenis, Claude, Penet, Clotilde, Delnatte, Capucine, Tinat, Julie, Tennevet, Isabelle, Limacher, Jean-Marc, Maugard, Christine, Demange, Liliane, Dreyfus, Helene, Cohen-Haguenauer, Odile, Leroux, Dominique, Zattara-Cannoni, Helene, Bera, Odile, Hogervorst, F. B. L., Adank, M. A., Schmidt, M. K., Russell, N. S., Jenner, D. J., Collee, J. M., van den Ouweland, A. M. W., Hooning, M. J., Seynaeve, C. M., van Deurzen, C. H. M., Obdeijn, I. M., van Asperen, C. J., Devilee, P., Kets, C. M., Mensenkamp, A. R., Koudijs, M. J., Aalfs, C. M., van Engelen, K., Gille, J. J. P., Gomez-Garcia, E. B., Blok, M. J., van der Hout, A. H., Mourits, M. J., de Bock, G. H., Siesling, S., Verloop, J., and van den Belt-Dusebout, A. W.

Abstract

Background: Full-term pregnancy (FTP) is associated with a reduced breast cancer (BC) risk over time, but women are at increased BC risk in the immediate years following an FTP. No large prospective studies, however, have examined whether the number and timing of pregnancies are associated with BC risk for BRCA1 and BRCA2 mutation carriers. Methods: Using weighted and time-varying Cox proportional hazards models, we investigated whether reproductive events are associated with BC risk for mutation carriers using a retrospective cohort (5707 BRCA1 and 3525 BRCA2 mutation carriers) and a prospective cohort (2276 BRCA1 and 1610 BRCA2 mutation carriers), separately for each cohort and the combined prospective and retrospective cohort. Results: For BRCA1 mutation carriers, there was no overall association with parity compared with nulliparity (combined hazard ratio [HRc] = 0.99, 95% confidence interval [CI] = 0.83 to 1.18). Relative to being uniparous, an increased number of FTPs was associated with decreased BC risk (HRc = 0.79, 95% CI = 0.69 to 0.91; HRc =0.70, 95% CI = 0.59 to 0.82; HRc = 0.50, 95% CI = 0.40 to 0.63, for 2, 3, and >= 4 FTPs, respectively, P-trend < .0001) and increasing duration of breastfeeding was associated with decreased BC risk (combined cohort P-trend = .0003). Relative to being nulliparous, uniparous BRCA1 mutation carriers were at increased BC risk in the prospective analysis (prospective hazard ration [HRp] =1.69, 95% CI =1.09 to 2.62). For BRCA2 mutation carriers, being parous was associated with a 30% increase in BC risk (HRc =1.33, 95% CI =1.05 to 1.69), and there was no apparent decrease in risk associated with multiparity except for having at least 4 FTPs vs. 1 FTP (HRc =0.72, 95% CI = 0.54 to 0.98). Conclusions: These findings suggest differential associations with parity between BRCA1 and BRCA2 mutation carriers with higher risk for uniparous BRCA1 carriers and parous BRCA2 carriers.

Published
2018

6. Oral Contraceptive Use and Breast Cancer Risk: Retrospective and Prospective Analyses From a BRCA1 and BRCA2 Mutation Carrier Cohort Study

Author

Schrijver, Lieske H., Olsson, Hakan, Phillips, Kelly-Anne, Terry, Mary Beth, Goldgar, David E., Kast, Karin, Engel, Christoph, Mooij, Thea M., Adlard, Julian, Barrowdale, Daniel, Davidson, Rosemarie, Eeles, Ros, Ellis, Steve, Evans, D. Gareth, Frost, Debra, Izatt, Louise, Porteous, Mary E., Side, Lucy E., Walker, Lisa, Berthet, Pascaline, Bonadona, Val Erie, Leroux, Dominique, Mouret-Fourme, Emmanuelle, Venat-Bouvet, Laurence, Buys, Saundra S., Southey, Melissa C., John, Esther M., Chung, Wendy K., Daly, Mary B., Bane, Anita, van Asperen, Christi J., Garcia, Encarna B. Gomez, Mourits, Marian J. E., Roos-Blom, Marie-Jose, Friedlander, Michael L., McLachlan, Sue-Anne, Singer, Christian F., Foretova, Lenka, Gerdes, Anne-Marie, Caldes, Trinidad, Olah, Edith, Jakubowska, Anna, Nogues, Catherine, Andrieu, Nadine, Easton, Douglas F., van Leeuwen, Flora E., Hopper, John L., Milne, Roger L., Antoniou, Antonis C., Rookus, Matti A., Rookus, M. A., Hogervorst, F. B. L., van Leeuwen, F. E., Adank, M. A., Schmidt, M. K., Russell, N. S., de Lange, J. L., Wijnands, R., Jenner, D. J., Collee, J. M., van den Ouweland, A. M. W., Hooning, M. J., Seynaeve, C., van Deurzen, C. H. M., Obdeijn, I. M., van Asperen, C. J., Wijnen, J. T., Tollenaar, R. A. E. M., Devilee, P., van Cronenburg, T. C. T. E. F., Kets, C. M., Mensenkamp, A. R., Ausems, M. G. E. M., van der Luijt, R. B., van der Pol, C. C., Aalfs, C. M., Meijers-Heijboer, H. E. J., van Os, T. A. M., van Engelen, K., Gille, J. J. P., Waisfisz, Q., Gomez-Garcia, E. B., Blok, M. J., Oosterwijk, J. C., van der Hout, A. H., Mourits, M. J., de Bock, G. H., Siesling, S., Verloop, J., Overbeek, L. I. H., Schrijver, Lieske H., Olsson, Hakan, Phillips, Kelly-Anne, Terry, Mary Beth, Goldgar, David E., Kast, Karin, Engel, Christoph, Mooij, Thea M., Adlard, Julian, Barrowdale, Daniel, Davidson, Rosemarie, Eeles, Ros, Ellis, Steve, Evans, D. Gareth, Frost, Debra, Izatt, Louise, Porteous, Mary E., Side, Lucy E., Walker, Lisa, Berthet, Pascaline, Bonadona, Val Erie, Leroux, Dominique, Mouret-Fourme, Emmanuelle, Venat-Bouvet, Laurence, Buys, Saundra S., Southey, Melissa C., John, Esther M., Chung, Wendy K., Daly, Mary B., Bane, Anita, van Asperen, Christi J., Garcia, Encarna B. Gomez, Mourits, Marian J. E., Roos-Blom, Marie-Jose, Friedlander, Michael L., McLachlan, Sue-Anne, Singer, Christian F., Foretova, Lenka, Gerdes, Anne-Marie, Caldes, Trinidad, Olah, Edith, Jakubowska, Anna, Nogues, Catherine, Andrieu, Nadine, Easton, Douglas F., van Leeuwen, Flora E., Hopper, John L., Milne, Roger L., Antoniou, Antonis C., Rookus, Matti A., Rookus, M. A., Hogervorst, F. B. L., van Leeuwen, F. E., Adank, M. A., Schmidt, M. K., Russell, N. S., de Lange, J. L., Wijnands, R., Jenner, D. J., Collee, J. M., van den Ouweland, A. M. W., Hooning, M. J., Seynaeve, C., van Deurzen, C. H. M., Obdeijn, I. M., van Asperen, C. J., Wijnen, J. T., Tollenaar, R. A. E. M., Devilee, P., van Cronenburg, T. C. T. E. F., Kets, C. M., Mensenkamp, A. R., Ausems, M. G. E. M., van der Luijt, R. B., van der Pol, C. C., Aalfs, C. M., Meijers-Heijboer, H. E. J., van Os, T. A. M., van Engelen, K., Gille, J. J. P., Waisfisz, Q., Gomez-Garcia, E. B., Blok, M. J., Oosterwijk, J. C., van der Hout, A. H., Mourits, M. J., de Bock, G. H., Siesling, S., Verloop, J., and Overbeek, L. I. H.

Abstract

Background: For BRCA1 and BRCA2 mutation carriers, the association between oral contraceptive preparation (OCP) use and breast cancer (BC) risk is still unclear. Methods: Breast camcer risk associations were estimated from OCP data on 6030 BRCA1 and 3809 BRCA2 mutation carriers using age-dependent Cox regression, stratified by study and birth cohort. Prospective, left-truncated retrospective and full-cohort retrospective analyses were performed. Results: For BRCA1 mutation carriers, OCP use was not associated with BC risk in prospective analyses (hazard ratio [HR] = 1.08, 95% confidence interval [CI] = 0.75 to 1.56), but in the left-truncated and full-cohort retrospective analyses, risks were increased by 26% (95% CI = 6% to 51%) and 39% (95% CI = 23% to 58%), respectively. For BRCA2 mutation carriers, OCP use was associated with BC risk in prospective analyses (HR = 1.75, 95% CI = 1.03 to 2.97), but retrospective analyses were inconsistent (left-truncated: HR = 1.06, 95% CI = 0.85 to 1.33; full cohort: HR = 1.52, 95% CI = 1.28 to 1.81). There was evidence of increasing risk with duration of use, especially before the first full-term pregnancy (BRCA1: both retrospective analyses, P < .001 and P = .001, respectively; BRCA2: full retrospective analysis, P = .002). Conclusions: Prospective analyses did not show that past use of OCP is associated with an increased BC risk for BRCA1 mutation carriers in young middle-aged women (40-50 years). For BRCA2 mutation carriers, a causal association is also not likely at those ages. Findings between retrospective and prospective analyses were inconsistent and could be due to survival bias or a true association for younger women who were underrepresented in the prospective cohort. Given the uncertain safety of long-term OCP use for BRCA1/2 mutation carriers, indications other than contraception should be avoided and non-hormonal contraceptive methods should be discussed.

Published
2018

7. The Influence of Number and Timing of Pregnancies on Breast Cancer Risk for Women With BRCA1 or BRCA2 Mutations

Author

Terry, Mary Beth, Liao, Yuyan, Kast, Karin, Antoniou, Antonis C., McDonald, Jasmine A., Mooij, Thea M., Engel, Christoph, Nogues, Catherine, Buecher, Bruno, Mari, Veronique, Moretta-Serra, Jessica, Gladieff, Laurence, Luporsi, Elisabeth, Barrowdale, Daniel, Frost, Debra, Henderson, Alex, Brewer, Carole, Evans, D. Gareth, Eccles, Diana, Cook, Jackie, Ong, Kai-ren, Izatt, Louise, Ahmed, Munaza, Morrison, Patrick J., Dommering, Charlotte J., Oosterwijk, Jan C., Ausems, Margreet G. E. M., Kriege, Mieke, Buys, Saundra S., Andrulis, Irene L., John, Esther M., Daly, Mary, Friedlander, Michael, McLachlan, Sue Anne, Osorio, Ana, Caldes, Trinidad, Jakubowska, Anna, Simard, Jacques, Singer, Christian F., Tan, Yen, Olah, Edith, Navratilova, Marie, Foretova, Lenka, Gerdes, Anne-Marie, Roos-Blom, Marie-Jose, Arver, Brita, Olsson, Hakan, Schmutzler, Rita K., Hopper, John L., van Leeuwen, Flora E., Goldgar, David, Milne, Roger L., Easton, Douglas F., Rookus, Matti A., Andrieu, Nadine, Evans, Gareth, Adlard, Julian, Eeles, Ros, Davidson, Rosemarie, Tischkowitz, Marc, Snape, Katie, Walker, Lisa, Porteous, Mary, Donaldson, Alan, Morrison, Patrick, Eason, Jacqueline, Rogers, Mark, Miller, Claire, Brady, Angela, Kennedy, M. John, Barwell, Julian, Gregory, Helen, Pottinger, Caroline, Murray, Alex, Angelakos, Maggie, Dite, Gillian, Tsimiklis, Helen, Breysse, Emmanuel, Pontois, Pauline, Laborde, Lilian, Stoppa-Lyonnet, Dominique, Gauthier-Villars, Marion, Caron, Olivier, Fourme-Mouret, Emmanuelle, Fricker, Jean-Pierre, Lasset, Christine, Bonadona, Valerie, Fert-Ferrer, Sandra, Berthet, Pascaline, Venat-Bouvet, Laurence, Gilbert-Dussardier, Brigitte, Faivre, Laurence, Gesta, Paul, Sobol, Hagay, Eisinger, Francois, Longy, Michel, Dugast, Catherine, Coupier, Isabelle, Colas, Chrystelle, Soubrier, Florent, Pujol, Pascal, Corsini, Carole, Lortholary, Alain, Vennin, Philippe, Adenis, Claude, Penet, Clotilde, Delnatte, Capucine, Tinat, Julie, Tennevet, Isabelle, Limacher, Jean-Marc, Maugard, Christine, Demange, Liliane, Dreyfus, Helene, Cohen-Haguenauer, Odile, Leroux, Dominique, Zattara-Cannoni, Helene, Bera, Odile, Hogervorst, F. B. L., Adank, M. A., Schmidt, M. K., Russell, N. S., Jenner, D. J., Collee, J. M., van den Ouweland, A. M. W., Hooning, M. J., Seynaeve, C. M., van Deurzen, C. H. M., Obdeijn, I. M., van Asperen, C. J., Devilee, P., Kets, C. M., Mensenkamp, A. R., Koudijs, M. J., Aalfs, C. M., van Engelen, K., Gille, J. J. P., Gomez-Garcia, E. B., Blok, M. J., van der Hout, A. H., Mourits, M. J., de Bock, G. H., Siesling, S., Verloop, J., van den Belt-Dusebout, A. W., Terry, Mary Beth, Liao, Yuyan, Kast, Karin, Antoniou, Antonis C., McDonald, Jasmine A., Mooij, Thea M., Engel, Christoph, Nogues, Catherine, Buecher, Bruno, Mari, Veronique, Moretta-Serra, Jessica, Gladieff, Laurence, Luporsi, Elisabeth, Barrowdale, Daniel, Frost, Debra, Henderson, Alex, Brewer, Carole, Evans, D. Gareth, Eccles, Diana, Cook, Jackie, Ong, Kai-ren, Izatt, Louise, Ahmed, Munaza, Morrison, Patrick J., Dommering, Charlotte J., Oosterwijk, Jan C., Ausems, Margreet G. E. M., Kriege, Mieke, Buys, Saundra S., Andrulis, Irene L., John, Esther M., Daly, Mary, Friedlander, Michael, McLachlan, Sue Anne, Osorio, Ana, Caldes, Trinidad, Jakubowska, Anna, Simard, Jacques, Singer, Christian F., Tan, Yen, Olah, Edith, Navratilova, Marie, Foretova, Lenka, Gerdes, Anne-Marie, Roos-Blom, Marie-Jose, Arver, Brita, Olsson, Hakan, Schmutzler, Rita K., Hopper, John L., van Leeuwen, Flora E., Goldgar, David, Milne, Roger L., Easton, Douglas F., Rookus, Matti A., Andrieu, Nadine, Evans, Gareth, Adlard, Julian, Eeles, Ros, Davidson, Rosemarie, Tischkowitz, Marc, Snape, Katie, Walker, Lisa, Porteous, Mary, Donaldson, Alan, Morrison, Patrick, Eason, Jacqueline, Rogers, Mark, Miller, Claire, Brady, Angela, Kennedy, M. John, Barwell, Julian, Gregory, Helen, Pottinger, Caroline, Murray, Alex, Angelakos, Maggie, Dite, Gillian, Tsimiklis, Helen, Breysse, Emmanuel, Pontois, Pauline, Laborde, Lilian, Stoppa-Lyonnet, Dominique, Gauthier-Villars, Marion, Caron, Olivier, Fourme-Mouret, Emmanuelle, Fricker, Jean-Pierre, Lasset, Christine, Bonadona, Valerie, Fert-Ferrer, Sandra, Berthet, Pascaline, Venat-Bouvet, Laurence, Gilbert-Dussardier, Brigitte, Faivre, Laurence, Gesta, Paul, Sobol, Hagay, Eisinger, Francois, Longy, Michel, Dugast, Catherine, Coupier, Isabelle, Colas, Chrystelle, Soubrier, Florent, Pujol, Pascal, Corsini, Carole, Lortholary, Alain, Vennin, Philippe, Adenis, Claude, Penet, Clotilde, Delnatte, Capucine, Tinat, Julie, Tennevet, Isabelle, Limacher, Jean-Marc, Maugard, Christine, Demange, Liliane, Dreyfus, Helene, Cohen-Haguenauer, Odile, Leroux, Dominique, Zattara-Cannoni, Helene, Bera, Odile, Hogervorst, F. B. L., Adank, M. A., Schmidt, M. K., Russell, N. S., Jenner, D. J., Collee, J. M., van den Ouweland, A. M. W., Hooning, M. J., Seynaeve, C. M., van Deurzen, C. H. M., Obdeijn, I. M., van Asperen, C. J., Devilee, P., Kets, C. M., Mensenkamp, A. R., Koudijs, M. J., Aalfs, C. M., van Engelen, K., Gille, J. J. P., Gomez-Garcia, E. B., Blok, M. J., van der Hout, A. H., Mourits, M. J., de Bock, G. H., Siesling, S., Verloop, J., and van den Belt-Dusebout, A. W.

Abstract

Background: Full-term pregnancy (FTP) is associated with a reduced breast cancer (BC) risk over time, but women are at increased BC risk in the immediate years following an FTP. No large prospective studies, however, have examined whether the number and timing of pregnancies are associated with BC risk for BRCA1 and BRCA2 mutation carriers. Methods: Using weighted and time-varying Cox proportional hazards models, we investigated whether reproductive events are associated with BC risk for mutation carriers using a retrospective cohort (5707 BRCA1 and 3525 BRCA2 mutation carriers) and a prospective cohort (2276 BRCA1 and 1610 BRCA2 mutation carriers), separately for each cohort and the combined prospective and retrospective cohort. Results: For BRCA1 mutation carriers, there was no overall association with parity compared with nulliparity (combined hazard ratio [HRc] = 0.99, 95% confidence interval [CI] = 0.83 to 1.18). Relative to being uniparous, an increased number of FTPs was associated with decreased BC risk (HRc = 0.79, 95% CI = 0.69 to 0.91; HRc =0.70, 95% CI = 0.59 to 0.82; HRc = 0.50, 95% CI = 0.40 to 0.63, for 2, 3, and >= 4 FTPs, respectively, P-trend < .0001) and increasing duration of breastfeeding was associated with decreased BC risk (combined cohort P-trend = .0003). Relative to being nulliparous, uniparous BRCA1 mutation carriers were at increased BC risk in the prospective analysis (prospective hazard ration [HRp] =1.69, 95% CI =1.09 to 2.62). For BRCA2 mutation carriers, being parous was associated with a 30% increase in BC risk (HRc =1.33, 95% CI =1.05 to 1.69), and there was no apparent decrease in risk associated with multiparity except for having at least 4 FTPs vs. 1 FTP (HRc =0.72, 95% CI = 0.54 to 0.98). Conclusions: These findings suggest differential associations with parity between BRCA1 and BRCA2 mutation carriers with higher risk for uniparous BRCA1 carriers and parous BRCA2 carriers.

Published
2018

8. Should we screen BRCA1 mutation carriers only with MRI? A multicenter study

Author

Obdeijn, I.-M., Winter-Warnars, G.A.O., Mann, R.M., Hooning, M.J., Hunink, M.G.M., Tilanus-Linthorst, M.M., Obdeijn, I.-M., Winter-Warnars, G.A.O., Mann, R.M., Hooning, M.J., Hunink, M.G.M., and Tilanus-Linthorst, M.M.

Abstract

Item does not contain fulltext, BRCA1 mutation carriers are offered screening with MRI and mammography. Aim of the study was to investigate the additional value of digital mammography over MRI screening. BRCA1 mutation carriers, who developed breast cancer since the introduction of digital mammography between January 2003 and March 2013, were included. The images and reports were reviewed in order to assess whether the breast cancers were screen-detected or interval cancers and whether they were visible on mammography and MRI, using the breast imaging and data system classification allocated at the time of diagnosis. In 93 BRCA1 mutation carriers who underwent screening with MRI and mammography, 82 invasive breast cancers and 12 ductal carcinomas in situ (DCIS) were found. Screening sensitivity was 95.7 \% (90/94). MRI detected 88 of 94 breast cancers (sensitivity 93.6 \%), and mammography detected 48 breast cancers (sensitivity 51.1 \%) (two-sided p < 0.001). Forty-two malignancies were detected only by MRI (42/94 = 44.7 \%). Two DCIS were detected only with mammography (2/94 = 2.1 \%) concerning a grade 3 in a 50-year-old patient and a grade 2 in a 67-year-old patient. Four interval cancers occurred (4/94 = 4.3 \%), all grade 3 triple negative invasive ductal carcinomas. In conclusion, digital mammography added only 2 \% to the breast cancer detection in BRCA1 patients. There was no benefit of additional mammography in women below age 40. Given the potential risk of radiation-induced breast cancer in young mutation carriers, we propose to screen BRCA1 mutation carriers yearly with MRI from age 25 onwards and to start with mammographic screening not earlier than age 40.

Published
2014

9. Should we screen BRCA1 mutation carriers only with MRI? A multicenter study

Author

Obdeijn, I.-M., Winter-Warnars, G.A.O., Mann, R.M., Hooning, M.J., Hunink, M.G.M., Tilanus-Linthorst, M.M., Obdeijn, I.-M., Winter-Warnars, G.A.O., Mann, R.M., Hooning, M.J., Hunink, M.G.M., and Tilanus-Linthorst, M.M.

Abstract

Item does not contain fulltext, BRCA1 mutation carriers are offered screening with MRI and mammography. Aim of the study was to investigate the additional value of digital mammography over MRI screening. BRCA1 mutation carriers, who developed breast cancer since the introduction of digital mammography between January 2003 and March 2013, were included. The images and reports were reviewed in order to assess whether the breast cancers were screen-detected or interval cancers and whether they were visible on mammography and MRI, using the breast imaging and data system classification allocated at the time of diagnosis. In 93 BRCA1 mutation carriers who underwent screening with MRI and mammography, 82 invasive breast cancers and 12 ductal carcinomas in situ (DCIS) were found. Screening sensitivity was 95.7 \% (90/94). MRI detected 88 of 94 breast cancers (sensitivity 93.6 \%), and mammography detected 48 breast cancers (sensitivity 51.1 \%) (two-sided p < 0.001). Forty-two malignancies were detected only by MRI (42/94 = 44.7 \%). Two DCIS were detected only with mammography (2/94 = 2.1 \%) concerning a grade 3 in a 50-year-old patient and a grade 2 in a 67-year-old patient. Four interval cancers occurred (4/94 = 4.3 \%), all grade 3 triple negative invasive ductal carcinomas. In conclusion, digital mammography added only 2 \% to the breast cancer detection in BRCA1 patients. There was no benefit of additional mammography in women below age 40. Given the potential risk of radiation-induced breast cancer in young mutation carriers, we propose to screen BRCA1 mutation carriers yearly with MRI from age 25 onwards and to start with mammographic screening not earlier than age 40.

Published
2014

10. Should we screen BRCA1 mutation carriers only with MRI? A multicenter study

Author

Obdeijn, I.-M., Winter-Warnars, G.A.O., Mann, R.M., Hooning, M.J., Hunink, M.G.M., Tilanus-Linthorst, M.M., Obdeijn, I.-M., Winter-Warnars, G.A.O., Mann, R.M., Hooning, M.J., Hunink, M.G.M., and Tilanus-Linthorst, M.M.

Abstract

Item does not contain fulltext, BRCA1 mutation carriers are offered screening with MRI and mammography. Aim of the study was to investigate the additional value of digital mammography over MRI screening. BRCA1 mutation carriers, who developed breast cancer since the introduction of digital mammography between January 2003 and March 2013, were included. The images and reports were reviewed in order to assess whether the breast cancers were screen-detected or interval cancers and whether they were visible on mammography and MRI, using the breast imaging and data system classification allocated at the time of diagnosis. In 93 BRCA1 mutation carriers who underwent screening with MRI and mammography, 82 invasive breast cancers and 12 ductal carcinomas in situ (DCIS) were found. Screening sensitivity was 95.7 \% (90/94). MRI detected 88 of 94 breast cancers (sensitivity 93.6 \%), and mammography detected 48 breast cancers (sensitivity 51.1 \%) (two-sided p < 0.001). Forty-two malignancies were detected only by MRI (42/94 = 44.7 \%). Two DCIS were detected only with mammography (2/94 = 2.1 \%) concerning a grade 3 in a 50-year-old patient and a grade 2 in a 67-year-old patient. Four interval cancers occurred (4/94 = 4.3 \%), all grade 3 triple negative invasive ductal carcinomas. In conclusion, digital mammography added only 2 \% to the breast cancer detection in BRCA1 patients. There was no benefit of additional mammography in women below age 40. Given the potential risk of radiation-induced breast cancer in young mutation carriers, we propose to screen BRCA1 mutation carriers yearly with MRI from age 25 onwards and to start with mammographic screening not earlier than age 40.

Published
2014

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