Pathology of Breast and Ovarian Cancers among BRCA1 and BRCA2 Mutation Carriers: Results from the Consortium of Investigators of Modifiers of BRCA1/2 (CIMBA)

N Mavaddat; D Barrowdale; IL Andrulis; SM Domchek; D Eccles; H Nevanlinna; SJ Ramus; A Spurdle; M Robson; M Sherman; AM Mulligan; FJ Couch; C Engel; L McGuffog; S Healey; OM Sinilnikova; MC Southey; MB Terry; D Goldgar; F O'Malley; EM John; R Janavicius; L Tihomirova; TVO Hansen; FC Nielsen; A Osorio; A Stavropoulou; J Benitez; S Manoukian; B Peissel; M Barile; S Volorio; B pasini; R Dolcetti; AL Putignano; L Ottini; P Radice; U Hamann; MU Rashid; FB Hogervorst; Mieke Kriege; RB van der Luijt; S Peock; D Frost; DG Evans; C Brewer; L Walker; MT Rogers; LE Side; C Houghton; J Weaver; AK Godwin; RK Schmutzler; B Wappenschmidt; A Meindl; K Kast; N Arnold; D Niederacher; C Sutter; H Deissler; D Gadzicki; S Preisler-Adams; R Varon-Mateeva; I Schonbuchner; H Gevensleben; D Stoppa-Lyonnet; M Belotti; L Barjhoux; C Isaacs; BN Peshkin; T Caldes; M de la Hoya; C Canadas; T Heikkinen; P Heikkila; K Aittomaki; I Blanco; C (Conxi) Lazaro; J Brunet; BA Agnarsson; A Arason; RB Barkardottir; M Dumont; J Simard; M Montagna; S Agata; E D'Andrea; M Yan; S Fox; TR Rebbeck; W Rubinstein; N Tung; JE Garber; XS Wang; Z Fredericksen; VS Pankratz; NM Lindor; C Szabo; K Offit; R Sakr; MM Gaudet; CF Singer; MK Tea; C Rappaport; PL Mai; MH Greene; A Sokolenko; E Imyanitov; AE Toland; L Senter; K Sweet; Marga Thomassen; AM Gerdes; T Kruse; M Caligo; P Aretini; J Rantala; A von Wachenfeld; K Henriksson; L Steele; SL Neuhausen; R Nussbaum; M Beattie; K Odunsi; L Sucheston; SA Gayther; K Nathanson; J Gross; C Walsh; B Karlan; G Chenevix-Trench; DF Easton; AC Antoniou

doi:10.1158/1055-9965.EPI-11-0775

Pathology of Breast and Ovarian Cancers among BRCA1 and BRCA2 Mutation Carriers: Results from the Consortium of Investigators of Modifiers of BRCA1/2 (CIMBA)

N Mavaddat, D Barrowdale, IL Andrulis, SM Domchek, D Eccles, H Nevanlinna, SJ Ramus, A Spurdle, M Robson, M Sherman, AM Mulligan, FJ Couch, C Engel, L McGuffog, S Healey, OM Sinilnikova, MC Southey, MB Terry, D Goldgar, F O'MalleyEM John, R Janavicius, L Tihomirova, TVO Hansen, FC Nielsen, A Osorio, A Stavropoulou, J Benitez, S Manoukian, B Peissel, M Barile, S Volorio, B pasini, R Dolcetti, AL Putignano, L Ottini, P Radice, U Hamann, MU Rashid, FB Hogervorst, Mieke Kriege, RB van der Luijt, S Peock, D Frost, DG Evans, C Brewer, L Walker, MT Rogers, LE Side, C Houghton, J Weaver, AK Godwin, RK Schmutzler, B Wappenschmidt, A Meindl, K Kast, N Arnold, D Niederacher, C Sutter, H Deissler, D Gadzicki, S Preisler-Adams, R Varon-Mateeva, I Schonbuchner, H Gevensleben, D Stoppa-Lyonnet, M Belotti, L Barjhoux, C Isaacs, BN Peshkin, T Caldes, M de la Hoya, C Canadas, T Heikkinen, P Heikkila, K Aittomaki, I Blanco, C (Conxi) Lazaro, J Brunet, BA Agnarsson, A Arason, RB Barkardottir, M Dumont, J Simard, M Montagna, S Agata, E D'Andrea, M Yan, S Fox, TR Rebbeck, W Rubinstein, N Tung, JE Garber, XS Wang, Z Fredericksen, VS Pankratz, NM Lindor, C Szabo, K Offit, R Sakr, MM Gaudet, CF Singer, MK Tea, C Rappaport, PL Mai, MH Greene, A Sokolenko, E Imyanitov, AE Toland, L Senter, K Sweet, Marga Thomassen, AM Gerdes, T Kruse, M Caligo, P Aretini, J Rantala, A von Wachenfeld, K Henriksson, L Steele, SL Neuhausen, R Nussbaum, M Beattie, K Odunsi, L Sucheston, SA Gayther, K Nathanson, J Gross, C Walsh, B Karlan, G Chenevix-Trench, DF Easton, AC Antoniou

Research output: Contribution to journal › Article › Academic › peer-review

538 Citations (Scopus)

Abstract

Background: Previously, small studies have found that BRCA1 and BRCA2 breast tumors differ in their pathology. Analysis of larger datasets of mutation carriers should allow further tumor characterization. Methods: We used data from 4,325 BRCA1 and 2,568 BRCA2 mutation carriers to analyze the pathology of invasive breast, ovarian, and contralateral breast cancers. Results: There was strong evidence that the proportion of estrogen receptor (ER)-negative breast tumors decreased with age at diagnosis among BRCA1 (P-trend = 1.2 x 10(-5)), but increased with age at diagnosis among BRCA2, carriers (P-trend 6.8 x 10(-6)). The proportion of triple-negative tumors decreased with age at diagnosis in BRCA1 carriers but increased with age at diagnosis of BRCA2 carriers. In both BRCA1 and BRCA2 carriers, ER-negative tumors were of higher histologic grade than ER-posit Conclusions/Impact: Pathologic characteristics of BRCA1 and BRCA2 tumors may be useful for improving risk-prediction algorithms and informing clinical strategies for screening and prophylaxis. Cancer Epidemiol Biomarkers Prev; 21(1); 134-47. (C) 2011 AACR.

Original language	Undefined/Unknown
Pages (from-to)	134-147
Number of pages	14
Journal	Cancer Epidemiology Biomarkers & Prevention
Volume	21
Issue number	1
DOIs	https://doi.org/10.1158/1055-9965.EPI-11-0775
Publication status	Published - 2012

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EMC MM-03-47-11
EMC MM-03-86-01

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Access to Document

10.1158/1055-9965.EPI-11-0775

http://hdl.handle.net/1765/39224

Cite this

Mavaddat, N., Barrowdale, D., Andrulis, IL., Domchek, SM., Eccles, D., Nevanlinna, H., Ramus, SJ., Spurdle, A., Robson, M., Sherman, M., Mulligan, AM., Couch, FJ., Engel, C., McGuffog, L., Healey, S., Sinilnikova, OM., Southey, MC., Terry, MB., Goldgar, D., ... Antoniou, AC. (2012). Pathology of Breast and Ovarian Cancers among BRCA1 and BRCA2 Mutation Carriers: Results from the Consortium of Investigators of Modifiers of BRCA1/2 (CIMBA). Cancer Epidemiology Biomarkers & Prevention, 21(1), 134-147. https://doi.org/10.1158/1055-9965.EPI-11-0775

@article{a63f96ccba834e2b976ca99a91ffda23,

title = "Pathology of Breast and Ovarian Cancers among BRCA1 and BRCA2 Mutation Carriers: Results from the Consortium of Investigators of Modifiers of BRCA1/2 (CIMBA)",

abstract = "Background: Previously, small studies have found that BRCA1 and BRCA2 breast tumors differ in their pathology. Analysis of larger datasets of mutation carriers should allow further tumor characterization. Methods: We used data from 4,325 BRCA1 and 2,568 BRCA2 mutation carriers to analyze the pathology of invasive breast, ovarian, and contralateral breast cancers. Results: There was strong evidence that the proportion of estrogen receptor (ER)-negative breast tumors decreased with age at diagnosis among BRCA1 (P-trend = 1.2 x 10(-5)), but increased with age at diagnosis among BRCA2, carriers (P-trend 6.8 x 10(-6)). The proportion of triple-negative tumors decreased with age at diagnosis in BRCA1 carriers but increased with age at diagnosis of BRCA2 carriers. In both BRCA1 and BRCA2 carriers, ER-negative tumors were of higher histologic grade than ER-posit Conclusions/Impact: Pathologic characteristics of BRCA1 and BRCA2 tumors may be useful for improving risk-prediction algorithms and informing clinical strategies for screening and prophylaxis. Cancer Epidemiol Biomarkers Prev; 21(1); 134-47. (C) 2011 AACR.",

author = "N Mavaddat and D Barrowdale and IL Andrulis and SM Domchek and D Eccles and H Nevanlinna and SJ Ramus and A Spurdle and M Robson and M Sherman and AM Mulligan and FJ Couch and C Engel and L McGuffog and S Healey and OM Sinilnikova and MC Southey and MB Terry and D Goldgar and F O'Malley and EM John and R Janavicius and L Tihomirova and TVO Hansen and FC Nielsen and A Osorio and A Stavropoulou and J Benitez and S Manoukian and B Peissel and M Barile and S Volorio and B pasini and R Dolcetti and AL Putignano and L Ottini and P Radice and U Hamann and MU Rashid and FB Hogervorst and Mieke Kriege and {van der Luijt}, RB and S Peock and D Frost and DG Evans and C Brewer and L Walker and MT Rogers and LE Side and C Houghton and J Weaver and AK Godwin and RK Schmutzler and B Wappenschmidt and A Meindl and K Kast and N Arnold and D Niederacher and C Sutter and H Deissler and D Gadzicki and S Preisler-Adams and R Varon-Mateeva and I Schonbuchner and H Gevensleben and D Stoppa-Lyonnet and M Belotti and L Barjhoux and C Isaacs and BN Peshkin and T Caldes and {de la Hoya}, M and C Canadas and T Heikkinen and P Heikkila and K Aittomaki and I Blanco and Lazaro, {C (Conxi)} and J Brunet and BA Agnarsson and A Arason and RB Barkardottir and M Dumont and J Simard and M Montagna and S Agata and E D'Andrea and M Yan and S Fox and TR Rebbeck and W Rubinstein and N Tung and JE Garber and XS Wang and Z Fredericksen and VS Pankratz and NM Lindor and C Szabo and K Offit and R Sakr and MM Gaudet and CF Singer and MK Tea and C Rappaport and PL Mai and MH Greene and A Sokolenko and E Imyanitov and AE Toland and L Senter and K Sweet and Marga Thomassen and AM Gerdes and T Kruse and M Caligo and P Aretini and J Rantala and {von Wachenfeld}, A and K Henriksson and L Steele and SL Neuhausen and R Nussbaum and M Beattie and K Odunsi and L Sucheston and SA Gayther and K Nathanson and J Gross and C Walsh and B Karlan and G Chenevix-Trench and DF Easton and AC Antoniou",

year = "2012",

doi = "10.1158/1055-9965.EPI-11-0775",

language = "Undefined/Unknown",

volume = "21",

pages = "134--147",

journal = "Cancer Epidemiology Biomarkers & Prevention",

issn = "1055-9965",

publisher = "American Association for Cancer Research Inc.",

number = "1",

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Mavaddat, N, Barrowdale, D, Andrulis, IL, Domchek, SM, Eccles, D, Nevanlinna, H, Ramus, SJ, Spurdle, A, Robson, M, Sherman, M, Mulligan, AM, Couch, FJ, Engel, C, McGuffog, L, Healey, S, Sinilnikova, OM, Southey, MC, Terry, MB, Goldgar, D, O'Malley, F, John, EM, Janavicius, R, Tihomirova, L, Hansen, TVO, Nielsen, FC, Osorio, A, Stavropoulou, A, Benitez, J, Manoukian, S, Peissel, B, Barile, M, Volorio, S, pasini, B, Dolcetti, R, Putignano, AL, Ottini, L, Radice, P, Hamann, U, Rashid, MU, Hogervorst, FB, Kriege, M, van der Luijt, RB, Peock, S, Frost, D, Evans, DG, Brewer, C, Walker, L, Rogers, MT, Side, LE, Houghton, C, Weaver, J, Godwin, AK, Schmutzler, RK, Wappenschmidt, B, Meindl, A, Kast, K, Arnold, N, Niederacher, D, Sutter, C, Deissler, H, Gadzicki, D, Preisler-Adams, S, Varon-Mateeva, R, Schonbuchner, I, Gevensleben, H, Stoppa-Lyonnet, D, Belotti, M, Barjhoux, L, Isaacs, C, Peshkin, BN, Caldes, T, de la Hoya, M, Canadas, C, Heikkinen, T, Heikkila, P, Aittomaki, K, Blanco, I, Lazaro, C, Brunet, J, Agnarsson, BA, Arason, A, Barkardottir, RB, Dumont, M, Simard, J, Montagna, M, Agata, S, D'Andrea, E, Yan, M, Fox, S, Rebbeck, TR, Rubinstein, W, Tung, N, Garber, JE, Wang, XS, Fredericksen, Z, Pankratz, VS, Lindor, NM, Szabo, C, Offit, K, Sakr, R, Gaudet, MM, Singer, CF, Tea, MK, Rappaport, C, Mai, PL, Greene, MH, Sokolenko, A, Imyanitov, E, Toland, AE, Senter, L, Sweet, K, Thomassen, M, Gerdes, AM, Kruse, T, Caligo, M, Aretini, P, Rantala, J, von Wachenfeld, A, Henriksson, K, Steele, L, Neuhausen, SL, Nussbaum, R, Beattie, M, Odunsi, K, Sucheston, L, Gayther, SA, Nathanson, K, Gross, J, Walsh, C, Karlan, B, Chenevix-Trench, G, Easton, DF & Antoniou, AC 2012, 'Pathology of Breast and Ovarian Cancers among BRCA1 and BRCA2 Mutation Carriers: Results from the Consortium of Investigators of Modifiers of BRCA1/2 (CIMBA)', Cancer Epidemiology Biomarkers & Prevention, vol. 21, no. 1, pp. 134-147. https://doi.org/10.1158/1055-9965.EPI-11-0775

Pathology of Breast and Ovarian Cancers among BRCA1 and BRCA2 Mutation Carriers: Results from the Consortium of Investigators of Modifiers of BRCA1/2 (CIMBA). / Mavaddat, N; Barrowdale, D; Andrulis, IL et al.
In: Cancer Epidemiology Biomarkers & Prevention, Vol. 21, No. 1, 2012, p. 134-147.

Research output: Contribution to journal › Article › Academic › peer-review

TY - JOUR

T1 - Pathology of Breast and Ovarian Cancers among BRCA1 and BRCA2 Mutation Carriers: Results from the Consortium of Investigators of Modifiers of BRCA1/2 (CIMBA)

AU - Mavaddat, N

AU - Barrowdale, D

AU - Andrulis, IL

AU - Domchek, SM

AU - Eccles, D

AU - Nevanlinna, H

AU - Ramus, SJ

AU - Spurdle, A

AU - Robson, M

AU - Sherman, M

AU - Mulligan, AM

AU - Couch, FJ

AU - Engel, C

AU - McGuffog, L

AU - Healey, S

AU - Sinilnikova, OM

AU - Southey, MC

AU - Terry, MB

AU - Goldgar, D

AU - O'Malley, F

AU - John, EM

AU - Janavicius, R

AU - Tihomirova, L

AU - Hansen, TVO

AU - Nielsen, FC

AU - Osorio, A

AU - Stavropoulou, A

AU - Benitez, J

AU - Manoukian, S

AU - Peissel, B

AU - Barile, M

AU - Volorio, S

AU - pasini, B

AU - Dolcetti, R

AU - Putignano, AL

AU - Ottini, L

AU - Radice, P

AU - Hamann, U

AU - Rashid, MU

AU - Hogervorst, FB

AU - Kriege, Mieke

AU - van der Luijt, RB

AU - Peock, S

AU - Frost, D

AU - Evans, DG

AU - Brewer, C

AU - Walker, L

AU - Rogers, MT

AU - Side, LE

AU - Houghton, C

AU - Weaver, J

AU - Godwin, AK

AU - Schmutzler, RK

AU - Wappenschmidt, B

AU - Meindl, A

AU - Kast, K

AU - Arnold, N

AU - Niederacher, D

AU - Sutter, C

AU - Deissler, H

AU - Gadzicki, D

AU - Preisler-Adams, S

AU - Varon-Mateeva, R

AU - Schonbuchner, I

AU - Gevensleben, H

AU - Stoppa-Lyonnet, D

AU - Belotti, M

AU - Barjhoux, L

AU - Isaacs, C

AU - Peshkin, BN

AU - Caldes, T

AU - de la Hoya, M

AU - Canadas, C

AU - Heikkinen, T

AU - Heikkila, P

AU - Aittomaki, K

AU - Blanco, I

AU - Lazaro, C (Conxi)

AU - Brunet, J

AU - Agnarsson, BA

AU - Arason, A

AU - Barkardottir, RB

AU - Dumont, M

AU - Simard, J

AU - Montagna, M

AU - Agata, S

AU - D'Andrea, E

AU - Yan, M

AU - Fox, S

AU - Rebbeck, TR

AU - Rubinstein, W

AU - Tung, N

AU - Garber, JE

AU - Wang, XS

AU - Fredericksen, Z

AU - Pankratz, VS

AU - Lindor, NM

AU - Szabo, C

AU - Offit, K

AU - Sakr, R

AU - Gaudet, MM

AU - Singer, CF

AU - Tea, MK

AU - Rappaport, C

AU - Mai, PL

AU - Greene, MH

AU - Sokolenko, A

AU - Imyanitov, E

AU - Toland, AE

AU - Senter, L

AU - Sweet, K

AU - Thomassen, Marga

AU - Gerdes, AM

AU - Kruse, T

AU - Caligo, M

AU - Aretini, P

AU - Rantala, J

AU - von Wachenfeld, A

AU - Henriksson, K

AU - Steele, L

AU - Neuhausen, SL

AU - Nussbaum, R

AU - Beattie, M

AU - Odunsi, K

AU - Sucheston, L

AU - Gayther, SA

AU - Nathanson, K

AU - Gross, J

AU - Walsh, C

AU - Karlan, B

AU - Chenevix-Trench, G

AU - Easton, DF

AU - Antoniou, AC

PY - 2012

Y1 - 2012

N2 - Background: Previously, small studies have found that BRCA1 and BRCA2 breast tumors differ in their pathology. Analysis of larger datasets of mutation carriers should allow further tumor characterization. Methods: We used data from 4,325 BRCA1 and 2,568 BRCA2 mutation carriers to analyze the pathology of invasive breast, ovarian, and contralateral breast cancers. Results: There was strong evidence that the proportion of estrogen receptor (ER)-negative breast tumors decreased with age at diagnosis among BRCA1 (P-trend = 1.2 x 10(-5)), but increased with age at diagnosis among BRCA2, carriers (P-trend 6.8 x 10(-6)). The proportion of triple-negative tumors decreased with age at diagnosis in BRCA1 carriers but increased with age at diagnosis of BRCA2 carriers. In both BRCA1 and BRCA2 carriers, ER-negative tumors were of higher histologic grade than ER-posit Conclusions/Impact: Pathologic characteristics of BRCA1 and BRCA2 tumors may be useful for improving risk-prediction algorithms and informing clinical strategies for screening and prophylaxis. Cancer Epidemiol Biomarkers Prev; 21(1); 134-47. (C) 2011 AACR.

AB - Background: Previously, small studies have found that BRCA1 and BRCA2 breast tumors differ in their pathology. Analysis of larger datasets of mutation carriers should allow further tumor characterization. Methods: We used data from 4,325 BRCA1 and 2,568 BRCA2 mutation carriers to analyze the pathology of invasive breast, ovarian, and contralateral breast cancers. Results: There was strong evidence that the proportion of estrogen receptor (ER)-negative breast tumors decreased with age at diagnosis among BRCA1 (P-trend = 1.2 x 10(-5)), but increased with age at diagnosis among BRCA2, carriers (P-trend 6.8 x 10(-6)). The proportion of triple-negative tumors decreased with age at diagnosis in BRCA1 carriers but increased with age at diagnosis of BRCA2 carriers. In both BRCA1 and BRCA2 carriers, ER-negative tumors were of higher histologic grade than ER-posit Conclusions/Impact: Pathologic characteristics of BRCA1 and BRCA2 tumors may be useful for improving risk-prediction algorithms and informing clinical strategies for screening and prophylaxis. Cancer Epidemiol Biomarkers Prev; 21(1); 134-47. (C) 2011 AACR.

U2 - 10.1158/1055-9965.EPI-11-0775

DO - 10.1158/1055-9965.EPI-11-0775

M3 - Article

C2 - 22144499

SN - 1055-9965

VL - 21

SP - 134

EP - 147

JO - Cancer Epidemiology Biomarkers & Prevention

JF - Cancer Epidemiology Biomarkers & Prevention

IS - 1

ER -