Author: "van Veen E.M." - Searchworks@Jio Institute Digital Library Search Results

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11 results on '"van Veen E.M."'

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

Author: Park H.A., Neumeyer S., Michailidou K., Bolla M.K., Wang Q., Dennis J., Ahearn T.U., Andrulis I.L., Anton-Culver H., Antonenkova N.N., Arndt V., Aronson K.J., Augustinsson A., Baten A., Beane Freeman L.E., Becher H., Beckmann M.W., Behrens S., Benitez J., Bermisheva M., Bogdanova N.V., Bojesen S.E., Brauch H., Brenner H., Brucker S.Y., Burwinkel B., Campa D., Canzian F., Castelao J.E., Chanock S.J., Clarke C.L., Borresen-Dale A.-L., Grenaker Alnaes G.I., Sahlberg K.K., Ottestad L., Karesen R., Schlichting E., Holmen M.M., Sauer T., Haakensen V., Engebraten O., Naume B., Fossa A., Kiserud C.E., Reinertsen K.V., Helland A., Riis M., Geisler J., Conroy D.M., Couch F.J., Cox A., Cross S.S., Czene K., Daly M.B., Devilee P., Dork T., dos-Santos-Silva I., Dwek M., Eccles D.M., Eliassen A.H., Engel C., Eriksson M., Evans D.G., Fasching P.A., Flyger H., Fritschi L., Garcia-Closas M., Garcia-Saenz J.A., Gaudet M.M., Giles G.G., Glendon G., Goldberg M.S., Goldgar D.E., Gonzalez-Neira A., Grip M., Guenel P., Hahnen E., Haiman C.A., Hakansson N., Hall P., Hamann U., Han S., Harkness E.F., Hart S.N., He W., Heemskerk-Gerritsen B.A.M., Hopper J.L., Hunter D.J., Clarke C., Baxter R., Yip D., Carpenter J., Davis A., Pathmanathan N., Graham D., Sachchithananthan M., Amor D., Andrews L., Antill Y., Balleine R., Beesley J., Bennett I., Bogwitz M., Botes L., Brennan M., Brown M., Buckley M., Burke J., Butow P., Caldon L., Campbell I., Chauhan D., Chauhan M., Chenevix-Trench G., Christian A., Cohen P., Colley A., Crook A., Cui J., Cummings M., Dawson S.-J., DeFazio A., Delatycki M., Dickson R., Dixon J., Edkins T., Edwards S., Farshid G., Fellows A., Fenton G., Field M., Flanagan J., Fong P., Forrest L., Fox S., French J., Friedlander M., Gaff C., Gattas M., George P., Greening S., Harris M., Hart S., Hayward N., Hopper J., Hoskins C., Hunt C., James P., Jenkins M., Kidd A., Kirk J., Koehler J., Kollias J., Lakhani S., Lawrence M., Lindeman G., Lipton L., Lobb L., Mann G., Marsh D., McLachlan S.A., Meiser B., Milne R., Nightingale S., O'Connell S., O'Sullivan S., Ortega D.G., Pachter N., Patterson B., Pearn A., Phillips K., Pieper E., Rickard E., Robinson B., Saleh M., Salisbury E., Saunders C., Saunus J., Scott R., Sexton A., Shelling A., Simpson P., Southey M., Spurdle A., Taylor J., Taylor R., Thorne H., Trainer A., Tucker K., Visvader J., Walker L., Williams R., Winship I., Young M.A., Jager A., Jakubowska A., John E.M., Jung A., Kaaks R., Kapoor P.M., Keeman R., Khusnutdinova E., Kitahara C.M., Koppert L.B., Koutros S., Kristensen V.N., Kurian A.W., Lacey J., Lambrechts D., Le Marchand L., Lo W.-Y., Lubinski J., Mannermaa A., Manoochehri M., Margolin S., Martinez M.E., Mavroudis D., Meindl A., Menon U., Milne R.L., Muranen T.A., Nevanlinna H., Newman W.G., Nordestgaard B.G., Offit K., Olshan A.F., Olsson H., Park-Simon T.-W., Peterlongo P., Peto J., Plaseska-Karanfilska D., Presneau N., Radice P., Rennert G., Rennert H.S., Romero A., Saloustros E., Sawyer E.J., Schmidt M.K., Schmutzler R.K., Schoemaker M.J., Schwentner L., Scott C., Shah M., Shu X.-O., Simard J., Smeets A., Southey M.C., Spinelli J.J., Stevens V., Swerdlow A.J., Tamimi R.M., Tapper W.J., Taylor J.A., Terry M.B., Tomlinson I., Troester M.A., Truong T., Vachon C.M., van Veen E.M., Vijai J., Wang S., Wendt C., Winqvist R., Wolk A., Ziogas A., Dunning A.M., Pharoah P.D.P., Easton D.F., Zheng W., Kraft P., Chang-Claude J., Park H.A., Neumeyer S., Michailidou K., Bolla M.K., Wang Q., Dennis J., Ahearn T.U., Andrulis I.L., Anton-Culver H., Antonenkova N.N., Arndt V., Aronson K.J., Augustinsson A., Baten A., Beane Freeman L.E., Becher H., Beckmann M.W., Behrens S., Benitez J., Bermisheva M., Bogdanova N.V., Bojesen S.E., Brauch H., Brenner H., Brucker S.Y., Burwinkel B., Campa D., Canzian F., Castelao J.E., Chanock S.J., Clarke C.L., Borresen-Dale A.-L., Grenaker Alnaes G.I., Sahlberg K.K., Ottestad L., Karesen R., Schlichting E., Holmen M.M., Sauer T., Haakensen V., Engebraten O., Naume B., Fossa A., Kiserud C.E., Reinertsen K.V., Helland A., Riis M., Geisler J., Conroy D.M., Couch F.J., Cox A., Cross S.S., Czene K., Daly M.B., Devilee P., Dork T., dos-Santos-Silva I., Dwek M., Eccles D.M., Eliassen A.H., Engel C., Eriksson M., Evans D.G., Fasching P.A., Flyger H., Fritschi L., Garcia-Closas M., Garcia-Saenz J.A., Gaudet M.M., Giles G.G., Glendon G., Goldberg M.S., Goldgar D.E., Gonzalez-Neira A., Grip M., Guenel P., Hahnen E., Haiman C.A., Hakansson N., Hall P., Hamann U., Han S., Harkness E.F., Hart S.N., He W., Heemskerk-Gerritsen B.A.M., Hopper J.L., Hunter D.J., Clarke C., Baxter R., Yip D., Carpenter J., Davis A., Pathmanathan N., Graham D., Sachchithananthan M., Amor D., Andrews L., Antill Y., Balleine R., Beesley J., Bennett I., Bogwitz M., Botes L., Brennan M., Brown M., Buckley M., Burke J., Butow P., Caldon L., Campbell I., Chauhan D., Chauhan M., Chenevix-Trench G., Christian A., Cohen P., Colley A., Crook A., Cui J., Cummings M., Dawson S.-J., DeFazio A., Delatycki M., Dickson R., Dixon J., Edkins T., Edwards S., Farshid G., Fellows A., Fenton G., Field M., Flanagan J., Fong P., Forrest L., Fox S., French J., Friedlander M., Gaff C., Gattas M., George P., Greening S., Harris M., Hart S., Hayward N., Hopper J., Hoskins C., Hunt C., James P., Jenkins M., Kidd A., Kirk J., Koehler J., Kollias J., Lakhani S., Lawrence M., Lindeman G., Lipton L., Lobb L., Mann G., Marsh D., McLachlan S.A., Meiser B., Milne R., Nightingale S., O'Connell S., O'Sullivan S., Ortega D.G., Pachter N., Patterson B., Pearn A., Phillips K., Pieper E., Rickard E., Robinson B., Saleh M., Salisbury E., Saunders C., Saunus J., Scott R., Sexton A., Shelling A., Simpson P., Southey M., Spurdle A., Taylor J., Taylor R., Thorne H., Trainer A., Tucker K., Visvader J., Walker L., Williams R., Winship I., Young M.A., Jager A., Jakubowska A., John E.M., Jung A., Kaaks R., Kapoor P.M., Keeman R., Khusnutdinova E., Kitahara C.M., Koppert L.B., Koutros S., Kristensen V.N., Kurian A.W., Lacey J., Lambrechts D., Le Marchand L., Lo W.-Y., Lubinski J., Mannermaa A., Manoochehri M., Margolin S., Martinez M.E., Mavroudis D., Meindl A., Menon U., Milne R.L., Muranen T.A., Nevanlinna H., Newman W.G., Nordestgaard B.G., Offit K., Olshan A.F., Olsson H., Park-Simon T.-W., Peterlongo P., Peto J., Plaseska-Karanfilska D., Presneau N., Radice P., Rennert G., Rennert H.S., Romero A., Saloustros E., Sawyer E.J., Schmidt M.K., Schmutzler R.K., Schoemaker M.J., Schwentner L., Scott C., Shah M., Shu X.-O., Simard J., Smeets A., Southey M.C., Spinelli J.J., Stevens V., Swerdlow A.J., Tamimi R.M., Tapper W.J., Taylor J.A., Terry M.B., Tomlinson I., Troester M.A., Truong T., Vachon C.M., van Veen E.M., Vijai J., Wang S., Wendt C., Winqvist R., Wolk A., Ziogas A., Dunning A.M., Pharoah P.D.P., Easton D.F., Zheng W., Kraft P., and Chang-Claude J.
Abstract: 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. Method(s): We applied Mendelian randomisation (MR) to evaluate a potential causal effect of cigarette smoking on breast cancer risk. Both individual-level data as well as summary statistics for 164 single-nucleotide polymorphisms (SNPs) reported in genome-wide association studies of lifetime smoking index (LSI) or cigarette per day (CPD) were used to obtain MR effect estimates. Data from 108,420 invasive breast cancer cases and 87,681 controls were used for the LSI analysis and for the CPD analysis conducted among ever-smokers from 26,147 cancer cases and 26,072 controls. Sensitivity analyses were conducted to address pleiotropy. Result(s): Genetically predicted LSI was associated with increased breast cancer risk (OR 1.18 per SD, 95% CI: 1.07-1.30, P = 0.11 x 10-2), but there was no evidence of association for genetically predicted CPD (OR 1.02, 95% CI: 0.78-1.19, P = 0.85). The sensitivity analyses yielded similar results and showed no strong evidence of pleiotropic effect. Conclusion(s): Our MR study provides supportive evidence for a potential causal association with breast cancer risk for lifetime smoking exposure but not cigarettes per day among smokers.Copyright © 2021, The Author(s).
Published: 2021

2. Breast cancer risk genes - Association analysis in more than 113,000 women.

Author: Cornelissen S., Michailidou K., Miller N., Taib N.A.M., Muir K., Mulligan A.M., Nevanlinna H., Newman W.G., Nordestgaard B.G., Ng P.-S., Oosterwijk J.C., Park S.K., Park-Simon T.-W., Perez J.I.A., Peterlongo P., Porteous D.J., Prajzendanc K., Prokofyeva D., Radice P., Rashid M.U., Rhenius V., Rookus M.A., Rudiger T., Saloustros E., Sawyer E.J., Schmutzler R.K., Schneeweiss A., Schurmann P., Shah M., Sohn C., Southey M.C., Surowy H., Suvanto M., Thanasitthichai S., Tomlinson I., Torres D., Truong T., Tzardi M., Valova Y., van Asperen C.J., van Dam R.M., van den Ouweland A.M.W., van der Kolk L.E., van Veen E.M., Wendt C., Williams J.A., Yang X.R., Yoon S.-Y., Zamora M.P., Evans D.G., de la Hoya M., Simard J., Antoniou A.C., Borg A., Andrulis I.L., Chang-Claude J., Garcia-Closas M., Chenevix-Trench G., Milne R.L., Pharoah P.D.P., Schmidt M.K., Spurdle A.B., Vreeswijk M.P.G., Benitez J., Dunning A.M., Kvist A., Teo S.H., Devilee P., Easton D.F., Dorling L., Carvalho S., Allen J., Gonzalez-Neira A., Luccarini C., Wahlstrom C., Pooley K.A., Parsons M.T., Fortuno C., Wang Q., Bolla M.K., Dennis J., Keeman R., Alonso M.R., Alvarez N., Herraez B., Fernandez V., Nunez-Torres R., Osorio A., Valcich J., Li M., Torngren T., Harrington P.A., Baynes C., Conroy D.M., Decker B., Fachal L., Mavaddat N., Ahearn T., Aittomaki K., Antonenkova N.N., Arnold N., Arveux P., Ausems M.G.E.M., Auvinen P., Becher H., Beckmann M.W., Behrens S., Bermisheva M., Bialkowska K., Blomqvist C., Bogdanova N.V., Bogdanova-Markov N., Bojesen S.E., Bonanni B., Borresen-Dale A.-L., Brauch H., Bremer M., Briceno I., Bruning T., Burwinkel B., Cameron D.A., Camp N.J., Campbell A., Carracedo A., Castelao J.E., Cessna M.H., Chanock S.J., Christiansen H., Collee J.M., Cordina-Duverger E., Czene K., Dork T., Ekici A.B., Engel C., Eriksson M., Fasching P.A., Figueroa J., Flyger H., Forsti A., Gabrielson M., Gago-Dominguez M., Georgoulias V., Gil F., Giles G.G., Glendon G., Gomez Garcia E.B., Grenaker Alnaes G.I., Guenel P., Hadjisavvas A., Haeberle L., Hahnen E., Hall P., Hamann U., Harkness E.F., Hartikainen J.M., Hartman M., He W., Heemskerk-Gerritsen B.A.M., Hillemanns P., Hogervorst F.B.L., Hollestelle A., Ho W.K., Hooning M.J., Howell A., Humphreys K., Idris F., Jakubowska A., Jung A., Kapoor P.M., Kerin M.J., Khusnutdinova E., Kim S.-W., Ko Y.-D., Kosma V.-M., Kristensen V.N., Kyriacou K., Lakeman I.M.M., Lee J.W., Lee M.H., Li J., Lindblom A., Lo W.-Y., Loizidou M.A., Lophatananon A., Lubinski J., MacInnis R.J., Madsen M.J., Mannermaa A., Manoochehri M., Manoukian S., Margolin S., Martinez M.E., Maurer T., Mavroudis D., McLean C., Meindl A., Mensenkamp A.R., Cornelissen S., Michailidou K., Miller N., Taib N.A.M., Muir K., Mulligan A.M., Nevanlinna H., Newman W.G., Nordestgaard B.G., Ng P.-S., Oosterwijk J.C., Park S.K., Park-Simon T.-W., Perez J.I.A., Peterlongo P., Porteous D.J., Prajzendanc K., Prokofyeva D., Radice P., Rashid M.U., Rhenius V., Rookus M.A., Rudiger T., Saloustros E., Sawyer E.J., Schmutzler R.K., Schneeweiss A., Schurmann P., Shah M., Sohn C., Southey M.C., Surowy H., Suvanto M., Thanasitthichai S., Tomlinson I., Torres D., Truong T., Tzardi M., Valova Y., van Asperen C.J., van Dam R.M., van den Ouweland A.M.W., van der Kolk L.E., van Veen E.M., Wendt C., Williams J.A., Yang X.R., Yoon S.-Y., Zamora M.P., Evans D.G., de la Hoya M., Simard J., Antoniou A.C., Borg A., Andrulis I.L., Chang-Claude J., Garcia-Closas M., Chenevix-Trench G., Milne R.L., Pharoah P.D.P., Schmidt M.K., Spurdle A.B., Vreeswijk M.P.G., Benitez J., Dunning A.M., Kvist A., Teo S.H., Devilee P., Easton D.F., Dorling L., Carvalho S., Allen J., Gonzalez-Neira A., Luccarini C., Wahlstrom C., Pooley K.A., Parsons M.T., Fortuno C., Wang Q., Bolla M.K., Dennis J., Keeman R., Alonso M.R., Alvarez N., Herraez B., Fernandez V., Nunez-Torres R., Osorio A., Valcich J., Li M., Torngren T., Harrington P.A., Baynes C., Conroy D.M., Decker B., Fachal L., Mavaddat N., Ahearn T., Aittomaki K., Antonenkova N.N., Arnold N., Arveux P., Ausems M.G.E.M., Auvinen P., Becher H., Beckmann M.W., Behrens S., Bermisheva M., Bialkowska K., Blomqvist C., Bogdanova N.V., Bogdanova-Markov N., Bojesen S.E., Bonanni B., Borresen-Dale A.-L., Brauch H., Bremer M., Briceno I., Bruning T., Burwinkel B., Cameron D.A., Camp N.J., Campbell A., Carracedo A., Castelao J.E., Cessna M.H., Chanock S.J., Christiansen H., Collee J.M., Cordina-Duverger E., Czene K., Dork T., Ekici A.B., Engel C., Eriksson M., Fasching P.A., Figueroa J., Flyger H., Forsti A., Gabrielson M., Gago-Dominguez M., Georgoulias V., Gil F., Giles G.G., Glendon G., Gomez Garcia E.B., Grenaker Alnaes G.I., Guenel P., Hadjisavvas A., Haeberle L., Hahnen E., Hall P., Hamann U., Harkness E.F., Hartikainen J.M., Hartman M., He W., Heemskerk-Gerritsen B.A.M., Hillemanns P., Hogervorst F.B.L., Hollestelle A., Ho W.K., Hooning M.J., Howell A., Humphreys K., Idris F., Jakubowska A., Jung A., Kapoor P.M., Kerin M.J., Khusnutdinova E., Kim S.-W., Ko Y.-D., Kosma V.-M., Kristensen V.N., Kyriacou K., Lakeman I.M.M., Lee J.W., Lee M.H., Li J., Lindblom A., Lo W.-Y., Loizidou M.A., Lophatananon A., Lubinski J., MacInnis R.J., Madsen M.J., Mannermaa A., Manoochehri M., Manoukian S., Margolin S., Martinez M.E., Maurer T., Mavroudis D., McLean C., Meindl A., and Mensenkamp A.R.
Abstract: BACKGROUND Genetic testing for breast cancer susceptibility is widely used, but for many genes, evidence of an association with breast cancer is weak, underlying risk estimates are imprecise, and reliable subtype-specific risk estimates are lacking. METHODS We used a panel of 34 putative susceptibility genes to perform sequencing on samples from 60,466 women with breast cancer and 53,461 controls. In separate analyses for protein-truncating variants and rare missense variants in these genes, we estimated odds ratios for breast cancer overall and tumor subtypes. We evaluated missense-variant associations according to domain and classification of pathogenicity. RESULTS Protein-truncating variants in 5 genes (ATM, BRCA1, BRCA2, CHEK2, and PALB2) were associated with a risk of breast cancer overall with a P value of less than 0.0001. Protein-truncating variants in 4 other genes (BARD1, RAD51C, RAD51D, and TP53) were associated with a risk of breast cancer overall with a P value of less than 0.05 and a Bayesian false-discovery probability of less than 0.05. For protein-truncating variants in 19 of the remaining 25 genes, the upper limit of the 95% confidence interval of the odds ratio for breast cancer overall was less than 2.0. For protein-truncating variants in ATM and CHEK2, odds ratios were higher for estrogen receptor (ER)-positive disease than for ER-negative disease; for protein-truncating variants in BARD1, BRCA1, BRCA2, PALB2, RAD51C, and RAD51D, odds ratios were higher for ER-negative disease than for ER-positive disease. Rare missense variants (in aggregate) in ATM, CHEK2, and TP53 were associated with a risk of breast cancer overall with a P value of less than 0.001. For BRCA1, BRCA2, and TP53, missense variants (in aggregate) that would be classified as pathogenic according to standard criteria were associated with a risk of breast cancer overall, with the risk being similar to that of protein-truncating variants. CONCLUSIONS The results of this study define
Published: 2021

3. CYP3A7*1C allele: linking premenopausal oestrone and progesterone levels with risk of hormone receptor-positive breast cancers.

Author: Johnson N., Maguire S., Morra A., Kapoor P.M., Tomczyk K., Jones M.E., Schoemaker M.J., Gilham C., Bolla M.K., Wang Q., Dennis J., Ahearn T.U., Andrulis I.L., Anton-Culver H., Antonenkova N.N., Arndt V., Aronson K.J., Augustinsson A., Baynes C., Freeman L.E.B., Beckmann M.W., Benitez J., Bermisheva M., Blomqvist C., Boeckx B., Bogdanova N.V., Bojesen S.E., Brauch H., Brenner H., Burwinkel B., Campa D., Canzian F., Castelao J.E., Chanock S.J., Chenevix-Trench G., Clarke C.L., Borresen-Dale A.-L., Alnaes G.I.G., Sahlberg K.K., Ottestad L., Karesen R., Schlichting E., Holmen M.M., Sauer T., Haakensen V., Engebraten O., Naume B., Fossa A., Kiserud C.E., Reinertsen K.V., Helland A., Riis M., Geisler J., Conroy D.M., Couch F.J., Cox A., Cross S.S., Czene K., Dork T., Eliassen A.H., Engel C., Evans D.G., Fasching P.A., Figueroa J., Floris G., Flyger H., Gago-Dominguez M., Gapstur S.M., Garcia-Closas M., Gaudet M.M., Giles G.G., Goldberg M.S., Gonzalez-Neira A., Bowtell D.D.L., Webb P.M., Guenel P., Hahnen E., Haiman C.A., Hakansson N., Hall P., Hamann U., Harrington P.A., Hart S.N., Hooning M.J., Hopper J.L., Howell A., Hunter D.J., Clarke C., Scott R., Baxter R., Yip D., Carpenter J., Davis A., Pathmanathan N., Graham D., Sachchithananthan M., Amor D., Andrews L., Antill Y., Balleine R., Beesley J., Bennett I., Bogwitz M., Botes L., Brennan M., Brown M., Buckley M., Burke J., Butow P., Caldon L., Campbell I., Chauhan D., Chauhan M., Christian A., Cohen P., Colley A., Crook A., Cui J., Cummings M., Dawson S.-J., DeFazio A., Delatycki M., Dickson R., Dixon J., Edkins T., Edwards S., Farshid G., Fellows A., Fenton G., Field M., Flanagan J., Fong P., Forrest L., Fox S., French J., Friedlander M., Gaff C., Gattas M., George P., Greening S., Harris M., Hart S., Hayward N., Hopper J., Hoskins C., Hunt C., James P., Jenkins M., Kidd A., Kirk J., Koehler J., Kollias J., Lakhani S., Lawrence M., Lindeman G., Lipton L., Lobb L., Mann G., Marsh D., McLachlan S.A., Meiser B., Milne R.L., Nightingale S., O'Connell S., O'Sullivan S., Ortega D.G., Pachter N., Patterson B., Pearn A., Phillips K., Pieper E., Rickard E., Robinson B., Saleh M., Salisbury E., Saunders C., Saunus J., Sexton A., Shelling A., Simpson P., Southey M.C., Spurdle A., Taylor J., Taylor R., Thorne H., Trainer A., Tucker K., Visvader J., Walker L., Williams R., Winship I., Young M.A., Jager A., Jakubowska A., John E.M., Keeman R., Khusnutdinova E., Kitahara C.M., Kosma V.-M., Koutros S., Kraft P., Kristensen V.N., Kurian A.W., Lambrechts D., Le Marchand L., Linet M., Lubinski J., Mannermaa A., Manoukian S., Margolin S., Martens J.W.M., Mavroudis D., Mayes R., Meindl A., Neuhausen S.L., Nevanlinna H., Newman W.G., Nielsen S.F., Nordestgaard B.G., Obi N., Olshan A.F., Olson J.E., Olsson H., Orban E., Park-Simon T.-W., Peterlongo P., Plaseska-Karanfilska D., Pylkas K., Rennert G., Rennert H.S., Ruddy K.J., Saloustros E., Sandler D.P., Sawyer E.J., Schmutzler R.K., Scott C., Shu X.-O., Simard J., Smichkoska S., Sohn C., Spinelli J.J., Stone J., Tamimi R.M., Taylor J.A., Tollenaar R.A.E.M., Tomlinson I., Troester M.A., Truong T., Vachon C.M., van Veen E.M., Wang S.S., Weinberg C.R., Wendt C., Wildiers H., Winqvist R., Wolk A., Zheng W., Ziogas A., Dunning A.M., Pharoah P.D.P., Easton D.F., Howie A.F., Peto J., dos-Santos-Silva I., Swerdlow A.J., Chang-Claude J., Schmidt M.K., Orr N., Fletcher O., Johnson N., Maguire S., Morra A., Kapoor P.M., Tomczyk K., Jones M.E., Schoemaker M.J., Gilham C., Bolla M.K., Wang Q., Dennis J., Ahearn T.U., Andrulis I.L., Anton-Culver H., Antonenkova N.N., Arndt V., Aronson K.J., Augustinsson A., Baynes C., Freeman L.E.B., Beckmann M.W., Benitez J., Bermisheva M., Blomqvist C., Boeckx B., Bogdanova N.V., Bojesen S.E., Brauch H., Brenner H., Burwinkel B., Campa D., Canzian F., Castelao J.E., Chanock S.J., Chenevix-Trench G., Clarke C.L., Borresen-Dale A.-L., Alnaes G.I.G., Sahlberg K.K., Ottestad L., Karesen R., Schlichting E., Holmen M.M., Sauer T., Haakensen V., Engebraten O., Naume B., Fossa A., Kiserud C.E., Reinertsen K.V., Helland A., Riis M., Geisler J., Conroy D.M., Couch F.J., Cox A., Cross S.S., Czene K., Dork T., Eliassen A.H., Engel C., Evans D.G., Fasching P.A., Figueroa J., Floris G., Flyger H., Gago-Dominguez M., Gapstur S.M., Garcia-Closas M., Gaudet M.M., Giles G.G., Goldberg M.S., Gonzalez-Neira A., Bowtell D.D.L., Webb P.M., Guenel P., Hahnen E., Haiman C.A., Hakansson N., Hall P., Hamann U., Harrington P.A., Hart S.N., Hooning M.J., Hopper J.L., Howell A., Hunter D.J., Clarke C., Scott R., Baxter R., Yip D., Carpenter J., Davis A., Pathmanathan N., Graham D., Sachchithananthan M., Amor D., Andrews L., Antill Y., Balleine R., Beesley J., Bennett I., Bogwitz M., Botes L., Brennan M., Brown M., Buckley M., Burke J., Butow P., Caldon L., Campbell I., Chauhan D., Chauhan M., Christian A., Cohen P., Colley A., Crook A., Cui J., Cummings M., Dawson S.-J., DeFazio A., Delatycki M., Dickson R., Dixon J., Edkins T., Edwards S., Farshid G., Fellows A., Fenton G., Field M., Flanagan J., Fong P., Forrest L., Fox S., French J., Friedlander M., Gaff C., Gattas M., George P., Greening S., Harris M., Hart S., Hayward N., Hopper J., Hoskins C., Hunt C., James P., Jenkins M., Kidd A., Kirk J., Koehler J., Kollias J., Lakhani S., Lawrence M., Lindeman G., Lipton L., Lobb L., Mann G., Marsh D., McLachlan S.A., Meiser B., Milne R.L., Nightingale S., O'Connell S., O'Sullivan S., Ortega D.G., Pachter N., Patterson B., Pearn A., Phillips K., Pieper E., Rickard E., Robinson B., Saleh M., Salisbury E., Saunders C., Saunus J., Sexton A., Shelling A., Simpson P., Southey M.C., Spurdle A., Taylor J., Taylor R., Thorne H., Trainer A., Tucker K., Visvader J., Walker L., Williams R., Winship I., Young M.A., Jager A., Jakubowska A., John E.M., Keeman R., Khusnutdinova E., Kitahara C.M., Kosma V.-M., Koutros S., Kraft P., Kristensen V.N., Kurian A.W., Lambrechts D., Le Marchand L., Linet M., Lubinski J., Mannermaa A., Manoukian S., Margolin S., Martens J.W.M., Mavroudis D., Mayes R., Meindl A., Neuhausen S.L., Nevanlinna H., Newman W.G., Nielsen S.F., Nordestgaard B.G., Obi N., Olshan A.F., Olson J.E., Olsson H., Orban E., Park-Simon T.-W., Peterlongo P., Plaseska-Karanfilska D., Pylkas K., Rennert G., Rennert H.S., Ruddy K.J., Saloustros E., Sandler D.P., Sawyer E.J., Schmutzler R.K., Scott C., Shu X.-O., Simard J., Smichkoska S., Sohn C., Spinelli J.J., Stone J., Tamimi R.M., Taylor J.A., Tollenaar R.A.E.M., Tomlinson I., Troester M.A., Truong T., Vachon C.M., van Veen E.M., Wang S.S., Weinberg C.R., Wendt C., Wildiers H., Winqvist R., Wolk A., Zheng W., Ziogas A., Dunning A.M., Pharoah P.D.P., Easton D.F., Howie A.F., Peto J., dos-Santos-Silva I., Swerdlow A.J., Chang-Claude J., Schmidt M.K., Orr N., and Fletcher O.
Abstract: Background: Epidemiological studies provide strong evidence for a role of endogenous sex hormones in the aetiology of breast cancer. The aim of this analysis was to identify genetic variants that are associated with urinary sex-hormone levels and breast cancer risk. Method(s): We carried out a genome-wide association study of urinary oestrone-3-glucuronide and pregnanediol-3-glucuronide levels in 560 premenopausal women, with additional analysis of progesterone levels in 298 premenopausal women. To test for the association with breast cancer risk, we carried out follow-up genotyping in 90,916 cases and 89,893 controls from the Breast Cancer Association Consortium. All women were of European ancestry. Result(s): For pregnanediol-3-glucuronide, there were no genome-wide significant associations; for oestrone-3-glucuronide, we identified a single peak mapping to the CYP3A locus, annotated by rs45446698. The minor rs45446698-C allele was associated with lower oestrone-3-glucuronide (-49.2%, 95% CI -56.1% to -41.1%, P = 3.1 x 10-18); in follow-up analyses, rs45446698-C was also associated with lower progesterone (-26.7%, 95% CI -39.4% to -11.6%, P = 0.001) and reduced risk of oestrogen and progesterone receptor-positive breast cancer (OR = 0.86, 95% CI 0.82-0.91, P = 6.9 x 10-8). Conclusion(s): The CYP3A7*1C allele is associated with reduced risk of hormone receptor-positive breast cancer possibly mediated via an effect on the metabolism of endogenous sex hormones in premenopausal women.Copyright © 2021, The Author(s).
Published: 2021

4. Combined Associations of a Polygenic Risk Score and Classical Risk Factors with Breast Cancer Risk.

Author: Kapoor P.M., Mavaddat N., Choudhury P.P., Wilcox A.N., Lindstrom S., Behrens S., Michailidou K., Dennis J., Bolla M.K., Wang Q., Jung A., Abu-Ful Z., Ahearn T., Andrulis I.L., Anton-Culver H., Arndt V., Aronson K.J., Auer P.L., Freeman L.E.B., Becher H., Beckmann M.W., Beeghly-Fadiel A., Benitez J., Bernstein L., Bojesen S.E., Brauch H., Brenner H., Bruning T., Cai Q., Campa D., Canzian F., Carracedo A., Carter B.D., Castelao J.E., Chanock S.J., Chatterjee N., Chenevix-Trench G., Clarke C.L., Couch F.J., Cox A., Cross S.S., Czene K., Dai J.Y., Earp H.S., Ekici A.B., Eliassen A.H., Eriksson M., Evans D.G., Fasching P.A., Figueroa J., Fritschi L., Gabrielson M., Gago-Dominguez M., Gao C., Gapstur S.M., Gaudet M.M., Giles G.G., Gonzalez-Neira A., Guenel P., Haeberle L., Haiman C.A., Hakansson N., Hall P., Hamann U., Hatse S., Heyworth J., Holleczek B., Hoover R.N., Hopper J.L., Howell A., Hunter D.J., John E.M., Jones M.E., Kaaks R., Keeman R., Kitahara C.M., Ko Y.-D., Koutros S., Kurian A.W., Lambrechts D., Le Marchand L., Lee E., Lejbkowicz F., Linet M., Lissowska J., Llaneza A., Macinnis R.J., Martinez M.E., Maurer T., Mclean C., Neuhausen S.L., Newman W.G., Norman A., O'brien K.M., Olshan A.F., Olson J.E., Olsson H., Orr N., Perou C.M., Pita G., Polley E.C., Prentice R.L., Rennert G., Rennert H.S., Ruddy K.J., Sandler D.P., Saunders C., Schoemaker M.J., Schottker B., Schumacher F., Scott C., Scott R.J., Shu X.-O., Smeets A., Southey M.C., Spinelli J.J., Stone J., Swerdlow A.J., Tamimi R.M., Taylor J.A., Troester M.A., Vachon C.M., Van Veen E.M., Wang X., Weinberg C.R., Weltens C., Willett W., Winham S.J., Wolk A., Yang X.R., Zheng W., Ziogas A., Dunning A.M., Pharoah P.D.P., Schmidt M.K., Kraft P., Easton D.F., Milne R.L., Garcia-Closas M., Chang-Claude J., Kapoor P.M., Mavaddat N., Choudhury P.P., Wilcox A.N., Lindstrom S., Behrens S., Michailidou K., Dennis J., Bolla M.K., Wang Q., Jung A., Abu-Ful Z., Ahearn T., Andrulis I.L., Anton-Culver H., Arndt V., Aronson K.J., Auer P.L., Freeman L.E.B., Becher H., Beckmann M.W., Beeghly-Fadiel A., Benitez J., Bernstein L., Bojesen S.E., Brauch H., Brenner H., Bruning T., Cai Q., Campa D., Canzian F., Carracedo A., Carter B.D., Castelao J.E., Chanock S.J., Chatterjee N., Chenevix-Trench G., Clarke C.L., Couch F.J., Cox A., Cross S.S., Czene K., Dai J.Y., Earp H.S., Ekici A.B., Eliassen A.H., Eriksson M., Evans D.G., Fasching P.A., Figueroa J., Fritschi L., Gabrielson M., Gago-Dominguez M., Gao C., Gapstur S.M., Gaudet M.M., Giles G.G., Gonzalez-Neira A., Guenel P., Haeberle L., Haiman C.A., Hakansson N., Hall P., Hamann U., Hatse S., Heyworth J., Holleczek B., Hoover R.N., Hopper J.L., Howell A., Hunter D.J., John E.M., Jones M.E., Kaaks R., Keeman R., Kitahara C.M., Ko Y.-D., Koutros S., Kurian A.W., Lambrechts D., Le Marchand L., Lee E., Lejbkowicz F., Linet M., Lissowska J., Llaneza A., Macinnis R.J., Martinez M.E., Maurer T., Mclean C., Neuhausen S.L., Newman W.G., Norman A., O'brien K.M., Olshan A.F., Olson J.E., Olsson H., Orr N., Perou C.M., Pita G., Polley E.C., Prentice R.L., Rennert G., Rennert H.S., Ruddy K.J., Sandler D.P., Saunders C., Schoemaker M.J., Schottker B., Schumacher F., Scott C., Scott R.J., Shu X.-O., Smeets A., Southey M.C., Spinelli J.J., Stone J., Swerdlow A.J., Tamimi R.M., Taylor J.A., Troester M.A., Vachon C.M., Van Veen E.M., Wang X., Weinberg C.R., Weltens C., Willett W., Winham S.J., Wolk A., Yang X.R., Zheng W., Ziogas A., Dunning A.M., Pharoah P.D.P., Schmidt M.K., Kraft P., Easton D.F., Milne R.L., Garcia-Closas M., and Chang-Claude J.
Abstract: We evaluated the joint associations between a new 313-variant PRS (PRS313) and questionnaire-based breast cancer risk factors for women of European ancestry, using 72 284 cases and 80 354 controls from the Breast Cancer Association Consortium. Interactions were evaluated using standard logistic regression and a newly developed case-only method for breast cancer risk overall and by estrogen receptor status. After accounting for multiple testing, we did not find evidence that per-standard deviation PRS313 odds ratio differed across strata defined by individual risk factors. Goodness-of-fit tests did not reject the assumption of a multiplicative model between PRS313 and each risk factor. Variation in projected absolute lifetime risk of breast cancer associated with classical risk factors was greater for women with higher genetic risk (PRS313 and family history) and, on average, 17.5% higher in the highest vs lowest deciles of genetic risk. These findings have implications for risk prevention for women at increased risk of breast cancer. Copyright © 2020 The Author(s).
Published: 2021

5. Genome-wide association study identifies 32 novel breast cancer susceptibility loci from overall and subtype-specific analyses.

Author: Goldgar D.E., Newman W.G., Nielsen F.C., Nikitina-Zake L., Nodora J., Offit K., Olah E., Olopade O.I., Olsson H., Orr N., Papi L., Papp J., Park-Simon T.-W., Parsons M.T., Peissel B., Peixoto A., Peshkin B., Peterlongo P., Peto J., Phillips K.-A., Piedmonte M., Plaseska-Karanfilska D., Prajzendanc K., Prentice R., Prokofyeva D., Rack B., Radice P., Ramus S.J., Rantala J., Rashid M.U., Rennert G., Rennert H.S., Risch H.A., Romero A., Rookus M.A., Rubner M., Rudiger T., Saloustros E., Sampson S., Sandler D.P., Sawyer E.J., Scheuner M.T., Schmutzler R.K., Schneeweiss A., Schoemaker M.J., Schottker B., Schurmann P., Senter L., Sharma P., Sherman M.E., Shu X.-O., Singer C.F., Smichkoska S., Soucy P., Southey M.C., Spinelli J.J., Stone J., Stoppa-Lyonnet D., Swerdlow A.J., Szabo C.I., Tamimi R.M., Tapper W.J., Taylor J.A., Teixeira M.R., Terry M.B., Thomassen M., Thull D.L., Tischkowitz M., Toland A.E., Tollenaar R.A.E.M., Tomlinson I., Torres D., Troester M.A., Truong T., Tung N., Untch M., Vachon C.M., van den Ouweland A.M.W., van der Kolk L.E., van Veen E.M., vanRensburg E.J., Vega A., Wappenschmidt B., Weinberg C.R., Weitzel J.N., Wildiers H., Winqvist R., Wolk A., Yang X.R., Yannoukakos D., Zheng W., Zorn K.K., Milne R.L., Kraft P., Simard J., Pharoah P.D.P., Michailidou K., Antoniou A.C., Schmidt M.K., Chenevix-Trench G., Easton D.F., Chatterjee N., Garcia-Closas M., Zhang H., Ahearn T.U., Lecarpentier J., Barnes D., Beesley J., Qi G., Jiang X., O'Mara T.A., Zhao N., Bolla M.K., Dunning A.M., Dennis J., Wang Q., Ful Z.A., Aittomaki K., Andrulis I.L., Anton-Culver H., Arndt V., Aronson K.J., Arun B.K., Auer P.L., Azzollini J., Barrowdale D., Becher H., Beckmann M.W., Behrens S., Benitez J., Bermisheva M., Bialkowska K., Blanco A., Blomqvist C., Bogdanova N.V., Bojesen S.E., Bonanni B., Bondavalli D., Borg A., Brauch H., Brenner H., Briceno I., Broeks A., Brucker S.Y., Bruning T., Burwinkel B., Buys S.S., Byers H., Caldes T., Caligo M.A., Calvello M., Campa D., Castelao J.E., Chang-Claude J., Chanock S.J., Christiaens M., Christiansen H., Chung W.K., Claes K.B.M., Clarke C.L., Cornelissen S., Couch F.J., Cox A., Cross S.S., Czene K., Daly M.B., Devilee P., Diez O., Domchek S.M., Dork T., Dwek M., Eccles D.M., Ekici A.B., Evans D.G., Fasching P.A., Figueroa J., Foretova L., Fostira F., Friedman E., Frost D., Gago-Dominguez M., Gapstur S.M., Garber J., Garcia-Saenz J.A., Gaudet M.M., Gayther S.A., Giles G.G., Godwin A.K., Goldberg M.S., Gonzalez-Neira A., Greene M.H., Gronwald J., Guenel P., Haberle L., Hahnen E., Haiman C.A., Hake C.R., Hall P., Hamann U., Harkness E.F., Heemskerk-Gerritsen B.A.M., Hillemanns P., Hogervorst F.B.L., Holleczek B., Hollestelle A., Hooning M.J., Hoover R.N., Hopper J.L., Howell A., Huebner H., Hulick P.J., Imyanitov E.N., Isaacs C., Izatt L., Jager A., Jakimovska M., Jakubowska A., James P., Janavicius R., Janni W., John E.M., Jones M.E., Jung A., Kaaks R., Kapoor P.M., Karlan B.Y., Keeman R., Khan S., Khusnutdinova E., Kitahara C.M., Ko Y.-D., Konstantopoulou I., Koppert L.B., Koutros S., Kristensen V.N., Laenkholm A.-V., Lambrechts D., Larsson S.C., Laurent-Puig P., Lazaro C., Lazarova E., Lejbkowicz F., Leslie G., Lesueur F., Lindblom A., Lissowska J., Lo W.-Y., Loud J.T., Lubinski J., Lukomska A., MacInnis R.J., Mannermaa A., Manoochehri M., Manoukian S., Margolin S., Martinez M.E., Matricardi L., McGuffog L., McLean C., Mebirouk N., Meindl A., Menon U., Miller A., Mingazheva E., Montagna M., Mulligan A.M., Mulot C., Muranen T.A., Nathanson K.L., Neuhausen S.L., Nevanlinna H., Neven P., Goldgar D.E., Newman W.G., Nielsen F.C., Nikitina-Zake L., Nodora J., Offit K., Olah E., Olopade O.I., Olsson H., Orr N., Papi L., Papp J., Park-Simon T.-W., Parsons M.T., Peissel B., Peixoto A., Peshkin B., Peterlongo P., Peto J., Phillips K.-A., Piedmonte M., Plaseska-Karanfilska D., Prajzendanc K., Prentice R., Prokofyeva D., Rack B., Radice P., Ramus S.J., Rantala J., Rashid M.U., Rennert G., Rennert H.S., Risch H.A., Romero A., Rookus M.A., Rubner M., Rudiger T., Saloustros E., Sampson S., Sandler D.P., Sawyer E.J., Scheuner M.T., Schmutzler R.K., Schneeweiss A., Schoemaker M.J., Schottker B., Schurmann P., Senter L., Sharma P., Sherman M.E., Shu X.-O., Singer C.F., Smichkoska S., Soucy P., Southey M.C., Spinelli J.J., Stone J., Stoppa-Lyonnet D., Swerdlow A.J., Szabo C.I., Tamimi R.M., Tapper W.J., Taylor J.A., Teixeira M.R., Terry M.B., Thomassen M., Thull D.L., Tischkowitz M., Toland A.E., Tollenaar R.A.E.M., Tomlinson I., Torres D., Troester M.A., Truong T., Tung N., Untch M., Vachon C.M., van den Ouweland A.M.W., van der Kolk L.E., van Veen E.M., vanRensburg E.J., Vega A., Wappenschmidt B., Weinberg C.R., Weitzel J.N., Wildiers H., Winqvist R., Wolk A., Yang X.R., Yannoukakos D., Zheng W., Zorn K.K., Milne R.L., Kraft P., Simard J., Pharoah P.D.P., Michailidou K., Antoniou A.C., Schmidt M.K., Chenevix-Trench G., Easton D.F., Chatterjee N., Garcia-Closas M., Zhang H., Ahearn T.U., Lecarpentier J., Barnes D., Beesley J., Qi G., Jiang X., O'Mara T.A., Zhao N., Bolla M.K., Dunning A.M., Dennis J., Wang Q., Ful Z.A., Aittomaki K., Andrulis I.L., Anton-Culver H., Arndt V., Aronson K.J., Arun B.K., Auer P.L., Azzollini J., Barrowdale D., Becher H., Beckmann M.W., Behrens S., Benitez J., Bermisheva M., Bialkowska K., Blanco A., Blomqvist C., Bogdanova N.V., Bojesen S.E., Bonanni B., Bondavalli D., Borg A., Brauch H., Brenner H., Briceno I., Broeks A., Brucker S.Y., Bruning T., Burwinkel B., Buys S.S., Byers H., Caldes T., Caligo M.A., Calvello M., Campa D., Castelao J.E., Chang-Claude J., Chanock S.J., Christiaens M., Christiansen H., Chung W.K., Claes K.B.M., Clarke C.L., Cornelissen S., Couch F.J., Cox A., Cross S.S., Czene K., Daly M.B., Devilee P., Diez O., Domchek S.M., Dork T., Dwek M., Eccles D.M., Ekici A.B., Evans D.G., Fasching P.A., Figueroa J., Foretova L., Fostira F., Friedman E., Frost D., Gago-Dominguez M., Gapstur S.M., Garber J., Garcia-Saenz J.A., Gaudet M.M., Gayther S.A., Giles G.G., Godwin A.K., Goldberg M.S., Gonzalez-Neira A., Greene M.H., Gronwald J., Guenel P., Haberle L., Hahnen E., Haiman C.A., Hake C.R., Hall P., Hamann U., Harkness E.F., Heemskerk-Gerritsen B.A.M., Hillemanns P., Hogervorst F.B.L., Holleczek B., Hollestelle A., Hooning M.J., Hoover R.N., Hopper J.L., Howell A., Huebner H., Hulick P.J., Imyanitov E.N., Isaacs C., Izatt L., Jager A., Jakimovska M., Jakubowska A., James P., Janavicius R., Janni W., John E.M., Jones M.E., Jung A., Kaaks R., Kapoor P.M., Karlan B.Y., Keeman R., Khan S., Khusnutdinova E., Kitahara C.M., Ko Y.-D., Konstantopoulou I., Koppert L.B., Koutros S., Kristensen V.N., Laenkholm A.-V., Lambrechts D., Larsson S.C., Laurent-Puig P., Lazaro C., Lazarova E., Lejbkowicz F., Leslie G., Lesueur F., Lindblom A., Lissowska J., Lo W.-Y., Loud J.T., Lubinski J., Lukomska A., MacInnis R.J., Mannermaa A., Manoochehri M., Manoukian S., Margolin S., Martinez M.E., Matricardi L., McGuffog L., McLean C., Mebirouk N., Meindl A., Menon U., Miller A., Mingazheva E., Montagna M., Mulligan A.M., Mulot C., Muranen T.A., Nathanson K.L., Neuhausen S.L., Nevanlinna H., and Neven P.
Abstract: Breast cancer susceptibility variants frequently show heterogeneity in associations by tumor subtype1-3. To identify novel loci, we performed a genome-wide association study including 133,384 breast cancer cases and 113,789 controls, plus 18,908 BRCA1 mutation carriers (9,414 with breast cancer) of European ancestry, using both standard and novel methodologies that account for underlying tumor heterogeneity by estrogen receptor, progesterone receptor and human epidermal growth factor receptor 2 status and tumor grade. We identified 32 novel susceptibility loci (P < 5.0 x 10-8), 15 of which showed evidence for associations with at least one tumor feature (false discovery rate < 0.05). Five loci showed associations (P < 0.05) in opposite directions between luminal and non-luminal subtypes. In silico analyses showed that these five loci contained cell-specific enhancers that differed between normal luminal and basal mammary cells. The genetic correlations between five intrinsic-like subtypes ranged from 0.35 to 0.80. The proportion of genome-wide chip heritability explained by all known susceptibility loci was 54.2% for luminal A-like disease and 37.6% for triple-negative disease. The odds ratios of polygenic risk scores, which included 330 variants, for the highest 1% of quantiles compared with middle quantiles were 5.63 and 3.02 for luminal A-like and triple-negative disease, respectively. These findings provide an improved understanding of genetic predisposition to breast cancer subtypes and will inform the development of subtype-specific polygenic risk scores.Copyright © 2020, The Author(s), under exclusive licence to Springer Nature America, Inc.
Published: 2020

6. Breast Cancer Polygenic Risk Score and Contralateral Breast Cancer Risk.

Author: Heemskerk-Gerritsen B.A.M., Ito H., Jakimovska M., Jakubowska A., Janni W., John E.M., Jung A., Kang D., Kets C.M., Khusnutdinova E., Ko Y.-D., Kristensen V.N., Kurian A.W., Kwong A., Lambrechts D., Le Marchand L., Li J., Lindblom A., Lubinski J., Mannermaa A., Manoochehri M., Margolin S., Matsuo K., Mavroudis D., Meindl A., Milne R.L., Mulligan A.M., Muranen T.A., Neuhausen S.L., Nevanlinna H., Newman W.G., Olshan A.F., Olson J.E., Olsson H., Park-Simon T.-W., Peto J., Petridis C., Plaseska-Karanfilska D., Presneau N., Pylkas K., Radice P., Rennert G., Romero A., Roylance R., Saloustros E., Sawyer E.J., Schmutzler R.K., Schwentner L., Scott C., See M.-H., Shah M., Shen C.-Y., Shu X.-O., Siesling S., Slager S., Sohn C., Spinelli J.J., Stone J., Tapper W.J., Tengstrom M., Teo S.H., Terry M.B., Tollenaar R.A.E.M., Tomlinson I., Troester M.A., Vachon C.M., van Ongeval C., van Veen E.M., Winqvist R., Wolk A., Zheng W., Ziogas A., Easton D.F., Hall P., Schmidt M.K., Kramer I., Hooning M.J., Mavaddat N., Hauptmann M., Keeman R., Steyerberg E.W., Giardiello D., Antoniou A.C., Pharoah P.D.P., Canisius S., Abu-Ful Z., Andrulis I.L., Anton-Culver H., Aronson K.J., Augustinsson A., Becher H., Beckmann M.W., Behrens S., Benitez J., Bermisheva M., Bogdanova N.V., Bojesen S.E., Bolla M.K., Bonanni B., Brauch H., Bremer M., Brucker S.Y., Burwinkel B., Castelao J.E., Chan T.L., Chang-Claude J., Chanock S.J., Chenevix-Trench G., Choi J.-Y., Clarke C.L., Borresen-Dale A.-L., Sahlberg K., Ottestad L., Karesen R., Schlichting E., Holmen M.M., Sauer T., Haakensen V., Engebraten O., Naume B., Fossa A., Kiserud C., Reinertsen K., Helland A., Riis M., Geisler J., Alnaes G.G., Collee J.M., Couch F.J., Cox A., Cross S.S., Czene K., Daly M.B., Devilee P., Dork T., dos-Santos-Silva I., Dunning A.M., Dwek M., Eccles D.M., Evans D.G., Fasching P.A., Flyger H., Gago-Dominguez M., Garcia-Closas M., Garcia-Saenz J.A., Giles G.G., Goldgar D.E., Gonzalez-Neira A., Haiman C.A., Hakansson N., Hamann U., Hartman M., Hollestelle A., Hopper J.L., Hou M.-F., Howell A., Clarke C., Marsh D., Scott R., Baxter R., Yip D., Carpenter J., Davis A., Pathmanathan N., Simpson P., Graham J.D., Sachchithananthan M., Amor D., Andrews L., Antill Y., Balleine R., Beesley J., Bennett I., Bogwitz M., Botes L., Brennan M., Brown M., Buckley M., Burke J., Butow P., Caldon L., Campbell I., Chauhan D., Chauhan M., Christian A., Cohen P., Colley A., Crook A., Cui J., Cummings M., Dawson S.-J., deFazio A., Delatycki M., Dickson R., Dixon J., Edkins T., Edwards S., Farshid G., Fellows A., Fenton G., Field M., Flanagan J., Fong P., Forrest L., Fox S., French J., Friedlander M., Gaff C., Gattas M., George P., Greening S., Harris M., Hart S., Hayward N., Hopper J., Hoskins C., Hunt C., James P., Jenkins M., Kidd A., Kirk J., Koehler J., Kollias J., Lakhani S., Lawrence M., Lindeman G., Lipton L., Lobb L., Mann G., McLachlan S.A., Meiser B., Nightingale S., O'Connell S., O'Sullivan S., Ortega D.G., Pachter N., Patterson B., Pearn A., Phillips K., Pieper E., Rickard E., Robinson B., Saleh M., Salisbury E., Saunders C., Saunus J., Sexton A., Shelling A., Southey M.C., Spurdle A., Taylor J., Taylor R., Thorne H., Trainer A., Tucker K., Visvader J., Walker L., Williams R., Winship I., Young M.A., Heemskerk-Gerritsen B.A.M., Ito H., Jakimovska M., Jakubowska A., Janni W., John E.M., Jung A., Kang D., Kets C.M., Khusnutdinova E., Ko Y.-D., Kristensen V.N., Kurian A.W., Kwong A., Lambrechts D., Le Marchand L., Li J., Lindblom A., Lubinski J., Mannermaa A., Manoochehri M., Margolin S., Matsuo K., Mavroudis D., Meindl A., Milne R.L., Mulligan A.M., Muranen T.A., Neuhausen S.L., Nevanlinna H., Newman W.G., Olshan A.F., Olson J.E., Olsson H., Park-Simon T.-W., Peto J., Petridis C., Plaseska-Karanfilska D., Presneau N., Pylkas K., Radice P., Rennert G., Romero A., Roylance R., Saloustros E., Sawyer E.J., Schmutzler R.K., Schwentner L., Scott C., See M.-H., Shah M., Shen C.-Y., Shu X.-O., Siesling S., Slager S., Sohn C., Spinelli J.J., Stone J., Tapper W.J., Tengstrom M., Teo S.H., Terry M.B., Tollenaar R.A.E.M., Tomlinson I., Troester M.A., Vachon C.M., van Ongeval C., van Veen E.M., Winqvist R., Wolk A., Zheng W., Ziogas A., Easton D.F., Hall P., Schmidt M.K., Kramer I., Hooning M.J., Mavaddat N., Hauptmann M., Keeman R., Steyerberg E.W., Giardiello D., Antoniou A.C., Pharoah P.D.P., Canisius S., Abu-Ful Z., Andrulis I.L., Anton-Culver H., Aronson K.J., Augustinsson A., Becher H., Beckmann M.W., Behrens S., Benitez J., Bermisheva M., Bogdanova N.V., Bojesen S.E., Bolla M.K., Bonanni B., Brauch H., Bremer M., Brucker S.Y., Burwinkel B., Castelao J.E., Chan T.L., Chang-Claude J., Chanock S.J., Chenevix-Trench G., Choi J.-Y., Clarke C.L., Borresen-Dale A.-L., Sahlberg K., Ottestad L., Karesen R., Schlichting E., Holmen M.M., Sauer T., Haakensen V., Engebraten O., Naume B., Fossa A., Kiserud C., Reinertsen K., Helland A., Riis M., Geisler J., Alnaes G.G., Collee J.M., Couch F.J., Cox A., Cross S.S., Czene K., Daly M.B., Devilee P., Dork T., dos-Santos-Silva I., Dunning A.M., Dwek M., Eccles D.M., Evans D.G., Fasching P.A., Flyger H., Gago-Dominguez M., Garcia-Closas M., Garcia-Saenz J.A., Giles G.G., Goldgar D.E., Gonzalez-Neira A., Haiman C.A., Hakansson N., Hamann U., Hartman M., Hollestelle A., Hopper J.L., Hou M.-F., Howell A., Clarke C., Marsh D., Scott R., Baxter R., Yip D., Carpenter J., Davis A., Pathmanathan N., Simpson P., Graham J.D., Sachchithananthan M., Amor D., Andrews L., Antill Y., Balleine R., Beesley J., Bennett I., Bogwitz M., Botes L., Brennan M., Brown M., Buckley M., Burke J., Butow P., Caldon L., Campbell I., Chauhan D., Chauhan M., Christian A., Cohen P., Colley A., Crook A., Cui J., Cummings M., Dawson S.-J., deFazio A., Delatycki M., Dickson R., Dixon J., Edkins T., Edwards S., Farshid G., Fellows A., Fenton G., Field M., Flanagan J., Fong P., Forrest L., Fox S., French J., Friedlander M., Gaff C., Gattas M., George P., Greening S., Harris M., Hart S., Hayward N., Hopper J., Hoskins C., Hunt C., James P., Jenkins M., Kidd A., Kirk J., Koehler J., Kollias J., Lakhani S., Lawrence M., Lindeman G., Lipton L., Lobb L., Mann G., McLachlan S.A., Meiser B., Nightingale S., O'Connell S., O'Sullivan S., Ortega D.G., Pachter N., Patterson B., Pearn A., Phillips K., Pieper E., Rickard E., Robinson B., Saleh M., Salisbury E., Saunders C., Saunus J., Sexton A., Shelling A., Southey M.C., Spurdle A., Taylor J., Taylor R., Thorne H., Trainer A., Tucker K., Visvader J., Walker L., Williams R., Winship I., and Young M.A.
Abstract: Previous research has shown that polygenic risk scores (PRSs) can be used to stratify women according to their risk of developing primary invasive breast cancer. This study aimed to evaluate the association between a recently validated PRS of 313 germline variants (PRS313) and contralateral breast cancer (CBC) risk. We included 56,068 women of European ancestry diagnosed with first invasive breast cancer from 1990 onward with follow-up from the Breast Cancer Association Consortium. Metachronous CBC risk (N = 1,027) according to the distribution of PRS313 was quantified using Cox regression analyses. We assessed PRS313 interaction with age at first diagnosis, family history, morphology, ER status, PR status, and HER2 status, and (neo)adjuvant therapy. In studies of Asian women, with limited follow-up, CBC risk associated with PRS313 was assessed using logistic regression for 340 women with CBC compared with 12,133 women with unilateral breast cancer. Higher PRS313 was associated with increased CBC risk: hazard ratio per standard deviation (SD) = 1.25 (95%CI = 1.18-1.33) for Europeans, and an OR per SD = 1.15 (95%CI = 1.02-1.29) for Asians. The absolute lifetime risks of CBC, accounting for death as competing risk, were 12.4% for European women at the 10th percentile and 20.5% at the 90th percentile of PRS313. We found no evidence of confounding by or interaction with individual characteristics, characteristics of the primary tumor, or treatment. The C-index for the PRS313 alone was 0.563 (95%CI = 0.547-0.586). In conclusion, PRS313 is an independent factor associated with CBC risk and can be incorporated into CBC risk prediction models to help improve stratification and optimize surveillance and treatment strategies.Copyright © 2020 American Society of Human Genetics
Published: 2020

7. Genome-wide association study of germline variants and breast cancer-specific mortality

Author: Escala-Garcia, M., Guo, Q., Dörk, T., Canisius, S., Keeman, R., Dennis, J., Beesley, J., Lecarpentier, J., Bolla, M.K., Wang, Q., Abraham, J., Andrulis, I.L., Anton-Culver, H., Arndt, V., Auer, P.L., Beckmann, M.W., Behrens, S., Benitez, J., Bermisheva, M., Bernstein, L., Blomqvist, C., Boeckx, B., Bojesen, S.E., Bonanni, B., Børresen-Dale, A.-L., Brauch, H., Brenner, H., Brentnall, A., Brinton, L., Broberg, P., Brock, I.W., Brucker, S.Y., Burwinkel, B., Caldas, C., Caldés, T., Campa, D., Canzian, F., Carracedo, A., Carter, B.D., Castelao, J.E., Chang-Claude, J., Chanock, S.J., Chenevix-Trench, G., Cheng, T.-Y.D., Chin, S.-F., Clarke, C.L., NBCS Collaborators, Cordina-Duverger, E., Couch, F.J., Cox, D.G., Cox, A., Cross, S.S., Czene, K., Daly, M.B., Devilee, P., Dunn, J.A., Dunning, A.M., Durcan, L., Dwek, M., Earl, H.M., Ekici, A.B., Eliassen, A.H., Ellberg, C., Engel, C., Eriksson, M., Evans, D.G., Figueroa, J., Flesch-Janys, D., Flyger, H., Gabrielson, M., Gago-Dominguez, M., Galle, E., Gapstur, S.M., García-Closas, M., García-Sáenz, J.A., Gaudet, M.M., George, A., Georgoulias, V., Giles, G.G., Glendon, G., Goldgar, D.E., González-Neira, A., Alnæs, G.I.G., Grip, M., Guénel, P., Haeberle, L., Hahnen, E., Haiman, C.A., Håkansson, N., Hall, P., Hamann, U., Hankinson, S., Harkness, E.F., Harrington, P.A., Hart, S.N., Hartikainen, J.M., Hein, A., Hillemanns, P., Hiller, L., Holleczek, B., Hollestelle, A., Hooning, M.J., Hoover, R.N., Hopper, J.L., Howell, A., Huang, G., Humphreys, K., Hunter, D.J., Janni, W., John, E.M., Jones, M.E., Jukkola-Vuorinen, A., Jung, A., Kaaks, R., Kabisch, M., Kaczmarek, K., Kerin, M.J., Khan, S., Khusnutdinova, E., Kiiski, J.I., Kitahara, C.M., Knight, J.A., Ko, Y.-D., Koppert, L.B., Kosma, V.-M., Kraft, P., Kristensen, V.N., Krüger, U., Kühl, T., Lambrechts, D., Le Marchand, L., Lee, E., Lejbkowicz, F., Li, L., Lindblom, A., Lindström, S., Linet, M., Lissowska, J., Lo, W.-Y., Loibl, S., Lubiński, J., Lux, M.P., MacInnis, R.J., Maierthaler, M., Maishman, T., Makalic, E., Mannermaa, A., Manoochehri, M., Manoukian, S., Margolin, S., Martinez, M.E., Mavroudis, D., McLean, C., Meindl, A., Middha, P., Miller, N., Milne, R.L., Moreno, F., Mulligan, A.M., Mulot, C., Nassir, R., Neuhausen, S.L., Newman, W.T., Nielsen, S.F., Nordestgaard, B.G., Norman, A., Olsson, H., Orr, N., Pankratz, V.S., Park-Simon, T.-W., Perez, J.I.A., Pérez-Barrios, C., Peterlongo, P., Petridis, C., Pinchev, M., Prajzendanc, K., Prentice, R., Presneau, N., Prokofieva, D., Pylkäs, K., Rack, B., Radice, P., Ramachandran, D., Rennert, G., Rennert, H.S., Rhenius, V., Romero, A., Roylance, R., Saloustros, E., Sawyer, E.J., Schmidt, D.F., Schmutzler, R.K., Schneeweiss, A., Schoemaker, M.J., Schumacher, F., Schwentner, L., Scott, R.J., Scott, C., Seynaeve, C., Shah, M., Simard, J., Smeets, A., Sohn, C., Southey, M.C., Swerdlow, A.J., Talhouk, A., Tamimi, R.M., Tapper, W.J., Teixeira, M.R., Tengström, M., Terry, M.B., Thöne, K., Tollenaar, R.A.E.M., Tomlinson, I., Torres, D., Truong, T., Turman, C., Turnbull, C., Ulmer, H.-U., Untch, M., Vachon, C., van Asperen, C.J., van den Ouweland, A.M.W., van Veen, E.M., Wendt, C., Whittemore, A.S., Willett, W., Winqvist, R., Wolk, A., Yang, X.R., Zhang, Y., Easton, D.F., Fasching, P.A., Nevanlinna, H., Eccles, D.M., Pharoah, P.D.P., and Schmidt, M.K.
Abstract: BACKGROUND: We examined the associations between germline variants and breast cancer mortality using a large meta-analysis of women of European ancestry. METHODS: Meta-analyses included summary estimates based on Cox models of twelve datasets using ~10.4 million variants for 96,661 women with breast cancer and 7697 events (breast cancer-specific deaths). Oestrogen receptor (ER)-specific analyses were based on 64,171 ER-positive (4116) and 16,172 ER-negative (2125) patients. We evaluated the probability of a signal to be a true positive using the Bayesian false discovery probability (BFDP). RESULTS: We did not find any variant associated with breast cancer-specific mortality at P
Published: 2019

8. The FANCM:p.Arg658* truncating variant is associated with risk of triple-negative breast cancer.

Author: Boutry-Kryza N., Rantala J., Rashid M.U., Rau-Murthy R., Rennert G., Lejbkowicz F., Rhenius V., Romero A., Rookus M.A., Ross E.A., Rossing M., Rudaitis V., Ruebner M., Saloustros E., Sanden K., Santamarina M., Scheuner M.T., Schmutzler R.K., Schneider M., Scott C., Senter L., Shah M., Sharma P., Shu X.-O., Simard J., Singer C.F., Sohn C., Soucy P., Southey M.C., Spinelli J.J., Steele L., Stoppa-Lyonnet D., Tapper W.J., Teixeira M.R., Terry M.B., Thomassen M., Thompson J., Thull D.L., Tischkowitz M., Tollenaar R.A.E.M., Torres D., Troester M.A., Truong T., Tung N., Untch M., Vachon C.M., van Rensburg E.J., van Veen E.M., Vega A., Viel A., Wappenschmidt B., Weitzel J.N., Wendt C., Wieme G., Wolk A., Yang X.R., Zheng W., Ziogas A., Zorn K.K., Dunning A.M., Lush M., Wang Q., McGuffog L., Parsons M.T., Pharoah P.D.P., Fostira F., Toland A.E., Andrulis I.L., Ramus S.J., Swerdlow A.J., Greene M.H., Chung W.K., Milne R.L., Chenevix-Trench G., Dork T., Schmidt M.K., Easton D.F., Radice P., Hahnen E., Antoniou A.C., Couch F.J., Nevanlinna H., Surralles J., Peterlongo P., Harris M., Figlioli G., Bogliolo M., Catucci I., Caleca L., Lasheras S.V., Pujol R., Kiiski J.I., Muranen T.A., Barnes D.R., Dennis J., Michailidou K., Bolla M.K., Leslie G., Aalfs C.M., Balleine R., Baxter R., Braye S., Carpenter J., Dahlstrom J., Forbes J., Lee C.S., Marsh D., Morey A., Pathmanathan N., Scott R., Simpson P., Spigelman A., Wilcken N., Yip D., Zeps N., Adank M.A., Adlard J., Agata S., Cadoo K., Agnarsson B.A., Ahearn T., Aittomaki K., Ambrosone C.B., Andrews L., Anton-Culver H., Antonenkova N.N., Arndt V., Arnold N., Aronson K.J., Arun B.K., Asseryanis E., Auber B., Auvinen P., Azzollini J., Balmana J., Barkardottir R.B., Barrowdale D., Barwell J., Beane Freeman L.E., Beauparlant C.J., Beckmann M.W., Behrens S., Benitez J., Berger R., Bermisheva M., Blanco A.M., Blomqvist C., Bogdanova N.V., Bojesen A., Bojesen S.E., Bonanni B., Borg A., Brady A.F., Brauch H., Brenner H., Bruning T., Burwinkel B., Buys S.S., Caldes T., Caliebe A., Caligo M.A., Campa D., Campbell I.G., Canzian F., Castelao J.E., Chang-Claude J., Chanock S.J., Claes K.B.M., Clarke C.L., Collavoli A., Conner T.A., Cox D.G., Cybulski C., Czene K., Daly M.B., de la Hoya M., Devilee P., Diez O., Ding Y.C., Dite G.S., Ditsch N., Domchek S.M., Dorfling C.M., dos-Santos-Silva I., Durda K., Dwek M., Eccles D.M., Ekici A.B., Eliassen A.H., Ellberg C., Eriksson M., Evans D.G., Fasching P.A., Figueroa J., Flyger H., Foulkes W.D., Friebel T.M., Friedman E., Gabrielson M., Gaddam P., Gago-Dominguez M., Gao C., Gapstur S.M., Garber J., Garcia-Closas M., Garcia-Saenz J.A., Gaudet M.M., Gayther S.A., Belotti M., Bertrand O., Birot A.-M., Buecher B., Caputo S., Dupre A., Fourme E., Gauthier-Villars M., Golmard L., Le Mentec M., Moncoutier V., de Pauw A., Saule C., Calender A., Giraud S., Leone M., Bressac-de-Paillerets B., Caron O., Guillaud-Bataille M., Bignon Y.-J., Uhrhammer N., Bonadona V., Lasset C., Berthet P., Castera L., Vaur D., Bourdon V., Nogues C., Noguchi T., Popovici C., Remenieras A., Sobol H., Coupier I., Pujol P., Adenis C., Dumont A., Revillion F., Muller D., Barouk-Simonet E., Bonnet F., Bubien V., Longy M., Sevenet N., Gladieff L., Guimbaud R., Feillel V., Toulas C., Dreyfus H., Leroux C.D., Peysselon M., Rebischung C., Legrand C., Baurand A., Bertolone G., Coron F., Faivre L., Jacquot C., Lizard S., Kientz C., Lebrun M., Prieur F., Fert-Ferrer S., Mari V., Venat-Bouvet L., Bezieau S., Delnatte C., Mortemousque I., Colas C., Coulet F., Soubrier F., Warcoin M., Bronner M., Sokolowska J., Collonge-Rame M.-A., Damette A., Gesta P., Lallaoui H., Chiesa J., Molina-Gomes D., Ingster O., Manouvrier-Hanu S., Lejeune S., Giles G.G., Glendon G., Godwin A.K., Goldberg M.S., Goldgar D.E., Guenel P., Gutierrez-Barrera A.M., Haeberle L., Haiman C.A., Hakansson N., Hall P., Hamann U., Harrington P.A., Hein A., Heyworth J., Hillemanns P., Hollestelle A., Hopper J.L., Hosgood H.D., Howell A., Hu C., Hulick P.J., Hunter D.J., Imyanitov E.N., Aghmesheh M., Greening S., Amor D., Gattas M., Botes L., Buckley M., Friedlander M., Koehler J., Meiser B., Saleh M., Salisbury E., Trainer A., Tucker K., Antill Y., Dobrovic A., Fellows A., Fox S., Nightingale S., Phillips K., Sambrook J., Thorne H., Armitage S., Arnold L., Kefford R., Kirk J., Rickard E., Bastick P., Beesley J., Hayward N., Spurdle A., Walker L., Beilby J., Saunders C., Bennett I., Blackburn A., Bogwitz M., Gaff C., Lindeman G., Pachter N., Sexton A., Visvader J., Taylor J., Winship I., Brennan M., Brown M., French J., Edwards S., Burgess M., Burke J., Patterson B., Butow P., Culling B., Caldon L., Callen D., Chauhan D., Eisenbruch M., Heiniger L., Chauhan M., Christian A., Dixon J., Kidd A., Cohen P., Colley A., Fenton G., Crook A., Dickson R., Field M., Cui J., Cummings M., Dawson S.-J., DeFazio A., Delatycki M., Dudding T., Edkins T., Farshid G., Flanagan J., Fong P., Forrest L., Gallego-Ortega D., George P., Gill G., Kollias J., Haan E., Hart S., Jenkins M., Hunt C., Lakhani S., Lipton L., Lobb L., Mann G., McLachlan S.A., O'Connell S., O'Sullivan S., Pieper E., Robinson B., Saunus J., Scott E., Shelling A., Williams R., Young M.A., Isaacs C., Jakimovska M., Jakubowska A., James P., Janavicius R., Janni W., John E.M., Jones M.E., Jung A., Kaaks R., Karlan B.Y., Khusnutdinova E., Kitahara C.M., Konstantopoulou I., Koutros S., Kraft P., Lambrechts D., Lazaro C., Le Marchand L., Lester J., Lesueur F., Lilyquist J., Loud J.T., Lu K.H., Luben R.N., Lubinski J., Mannermaa A., Manoochehri M., Manoukian S., Margolin S., Martens J.W.M., Maurer T., Mavroudis D., Mebirouk N., Meindl A., Menon U., Miller A., Montagna M., Nathanson K.L., Neuhausen S.L., Newman W.G., Nguyen-Dumont T., Nielsen F.C., Nielsen S., Nikitina-Zake L., Offit K., Olah E., Olopade O.I., Olshan A.F., Olson J.E., Olsson H., Osorio A., Ottini L., Peissel B., Peixoto A., Peto J., Plaseska-Karanfilska D., Pocza T., Presneau N., Pujana M.A., Punie K., Rack B., Boutry-Kryza N., Rantala J., Rashid M.U., Rau-Murthy R., Rennert G., Lejbkowicz F., Rhenius V., Romero A., Rookus M.A., Ross E.A., Rossing M., Rudaitis V., Ruebner M., Saloustros E., Sanden K., Santamarina M., Scheuner M.T., Schmutzler R.K., Schneider M., Scott C., Senter L., Shah M., Sharma P., Shu X.-O., Simard J., Singer C.F., Sohn C., Soucy P., Southey M.C., Spinelli J.J., Steele L., Stoppa-Lyonnet D., Tapper W.J., Teixeira M.R., Terry M.B., Thomassen M., Thompson J., Thull D.L., Tischkowitz M., Tollenaar R.A.E.M., Torres D., Troester M.A., Truong T., Tung N., Untch M., Vachon C.M., van Rensburg E.J., van Veen E.M., Vega A., Viel A., Wappenschmidt B., Weitzel J.N., Wendt C., Wieme G., Wolk A., Yang X.R., Zheng W., Ziogas A., Zorn K.K., Dunning A.M., Lush M., Wang Q., McGuffog L., Parsons M.T., Pharoah P.D.P., Fostira F., Toland A.E., Andrulis I.L., Ramus S.J., Swerdlow A.J., Greene M.H., Chung W.K., Milne R.L., Chenevix-Trench G., Dork T., Schmidt M.K., Easton D.F., Radice P., Hahnen E., Antoniou A.C., Couch F.J., Nevanlinna H., Surralles J., Peterlongo P., Harris M., Figlioli G., Bogliolo M., Catucci I., Caleca L., Lasheras S.V., Pujol R., Kiiski J.I., Muranen T.A., Barnes D.R., Dennis J., Michailidou K., Bolla M.K., Leslie G., Aalfs C.M., Balleine R., Baxter R., Braye S., Carpenter J., Dahlstrom J., Forbes J., Lee C.S., Marsh D., Morey A., Pathmanathan N., Scott R., Simpson P., Spigelman A., Wilcken N., Yip D., Zeps N., Adank M.A., Adlard J., Agata S., Cadoo K., Agnarsson B.A., Ahearn T., Aittomaki K., Ambrosone C.B., Andrews L., Anton-Culver H., Antonenkova N.N., Arndt V., Arnold N., Aronson K.J., Arun B.K., Asseryanis E., Auber B., Auvinen P., Azzollini J., Balmana J., Barkardottir R.B., Barrowdale D., Barwell J., Beane Freeman L.E., Beauparlant C.J., Beckmann M.W., Behrens S., Benitez J., Berger R., Bermisheva M., Blanco A.M., Blomqvist C., Bogdanova N.V., Bojesen A., Bojesen S.E., Bonanni B., Borg A., Brady A.F., Brauch H., Brenner H., Bruning T., Burwinkel B., Buys S.S., Caldes T., Caliebe A., Caligo M.A., Campa D., Campbell I.G., Canzian F., Castelao J.E., Chang-Claude J., Chanock S.J., Claes K.B.M., Clarke C.L., Collavoli A., Conner T.A., Cox D.G., Cybulski C., Czene K., Daly M.B., de la Hoya M., Devilee P., Diez O., Ding Y.C., Dite G.S., Ditsch N., Domchek S.M., Dorfling C.M., dos-Santos-Silva I., Durda K., Dwek M., Eccles D.M., Ekici A.B., Eliassen A.H., Ellberg C., Eriksson M., Evans D.G., Fasching P.A., Figueroa J., Flyger H., Foulkes W.D., Friebel T.M., Friedman E., Gabrielson M., Gaddam P., Gago-Dominguez M., Gao C., Gapstur S.M., Garber J., Garcia-Closas M., Garcia-Saenz J.A., Gaudet M.M., Gayther S.A., Belotti M., Bertrand O., Birot A.-M., Buecher B., Caputo S., Dupre A., Fourme E., Gauthier-Villars M., Golmard L., Le Mentec M., Moncoutier V., de Pauw A., Saule C., Calender A., Giraud S., Leone M., Bressac-de-Paillerets B., Caron O., Guillaud-Bataille M., Bignon Y.-J., Uhrhammer N., Bonadona V., Lasset C., Berthet P., Castera L., Vaur D., Bourdon V., Nogues C., Noguchi T., Popovici C., Remenieras A., Sobol H., Coupier I., Pujol P., Adenis C., Dumont A., Revillion F., Muller D., Barouk-Simonet E., Bonnet F., Bubien V., Longy M., Sevenet N., Gladieff L., Guimbaud R., Feillel V., Toulas C., Dreyfus H., Leroux C.D., Peysselon M., Rebischung C., Legrand C., Baurand A., Bertolone G., Coron F., Faivre L., Jacquot C., Lizard S., Kientz C., Lebrun M., Prieur F., Fert-Ferrer S., Mari V., Venat-Bouvet L., Bezieau S., Delnatte C., Mortemousque I., Colas C., Coulet F., Soubrier F., Warcoin M., Bronner M., Sokolowska J., Collonge-Rame M.-A., Damette A., Gesta P., Lallaoui H., Chiesa J., Molina-Gomes D., Ingster O., Manouvrier-Hanu S., Lejeune S., Giles G.G., Glendon G., Godwin A.K., Goldberg M.S., Goldgar D.E., Guenel P., Gutierrez-Barrera A.M., Haeberle L., Haiman C.A., Hakansson N., Hall P., Hamann U., Harrington P.A., Hein A., Heyworth J., Hillemanns P., Hollestelle A., Hopper J.L., Hosgood H.D., Howell A., Hu C., Hulick P.J., Hunter D.J., Imyanitov E.N., Aghmesheh M., Greening S., Amor D., Gattas M., Botes L., Buckley M., Friedlander M., Koehler J., Meiser B., Saleh M., Salisbury E., Trainer A., Tucker K., Antill Y., Dobrovic A., Fellows A., Fox S., Nightingale S., Phillips K., Sambrook J., Thorne H., Armitage S., Arnold L., Kefford R., Kirk J., Rickard E., Bastick P., Beesley J., Hayward N., Spurdle A., Walker L., Beilby J., Saunders C., Bennett I., Blackburn A., Bogwitz M., Gaff C., Lindeman G., Pachter N., Sexton A., Visvader J., Taylor J., Winship I., Brennan M., Brown M., French J., Edwards S., Burgess M., Burke J., Patterson B., Butow P., Culling B., Caldon L., Callen D., Chauhan D., Eisenbruch M., Heiniger L., Chauhan M., Christian A., Dixon J., Kidd A., Cohen P., Colley A., Fenton G., Crook A., Dickson R., Field M., Cui J., Cummings M., Dawson S.-J., DeFazio A., Delatycki M., Dudding T., Edkins T., Farshid G., Flanagan J., Fong P., Forrest L., Gallego-Ortega D., George P., Gill G., Kollias J., Haan E., Hart S., Jenkins M., Hunt C., Lakhani S., Lipton L., Lobb L., Mann G., McLachlan S.A., O'Connell S., O'Sullivan S., Pieper E., Robinson B., Saunus J., Scott E., Shelling A., Williams R., Young M.A., Isaacs C., Jakimovska M., Jakubowska A., James P., Janavicius R., Janni W., John E.M., Jones M.E., Jung A., Kaaks R., Karlan B.Y., Khusnutdinova E., Kitahara C.M., Konstantopoulou I., Koutros S., Kraft P., Lambrechts D., Lazaro C., Le Marchand L., Lester J., Lesueur F., Lilyquist J., Loud J.T., Lu K.H., Luben R.N., Lubinski J., Mannermaa A., Manoochehri M., Manoukian S., Margolin S., Martens J.W.M., Maurer T., Mavroudis D., Mebirouk N., Meindl A., Menon U., Miller A., Montagna M., Nathanson K.L., Neuhausen S.L., Newman W.G., Nguyen-Dumont T., Nielsen F.C., Nielsen S., Nikitina-Zake L., Offit K., Olah E., Olopade O.I., Olshan A.F., Olson J.E., Olsson H., Osorio A., Ottini L., Peissel B., Peixoto A., Peto J., Plaseska-Karanfilska D., Pocza T., Presneau N., Pujana M.A., Punie K., and Rack B.
Abstract: Breast cancer is a common disease partially caused by genetic risk factors. Germline pathogenic variants in DNA repair genes BRCA1, BRCA2, PALB2, ATM, and CHEK2 are associated with breast cancer risk. FANCM, which encodes for a DNA translocase, has been proposed as a breast cancer predisposition gene, with greater effects for the ER-negative and triple-negative breast cancer (TNBC) subtypes. We tested the three recurrent protein-truncating variants FANCM:p.Arg658*, p.Gln1701*, and p.Arg1931* for association with breast cancer risk in 67,112 cases, 53,766 controls, and 26,662 carriers of pathogenic variants of BRCA1 or BRCA2. These three variants were also studied functionally by measuring survival and chromosome fragility in FANCM-/- patient-derived immortalized fibroblasts treated with diepoxybutane or olaparib. We observed that FANCM:p.Arg658* was associated with increased risk of ER-negative disease and TNBC (OR = 2.44, P = 0.034 and OR = 3.79; P = 0.009, respectively). In a country-restricted analysis, we confirmed the associations detected for FANCM:p.Arg658* and found that also FANCM:p.Arg1931* was associated with ER-negative breast cancer risk (OR = 1.96; P = 0.006). The functional results indicated that all three variants were deleterious affecting cell survival and chromosome stability with FANCM:p.Arg658* causing more severe phenotypes. In conclusion, we confirmed that the two rare FANCM deleterious variants p.Arg658* and p.Arg1931* are risk factors for ER-negative and TNBC subtypes. Overall our data suggest that the effect of truncating variants on breast cancer risk may depend on their position in the gene. Cell sensitivity to olaparib exposure, identifies a possible therapeutic option to treat FANCM-associated tumors.Copyright © 2019, The Author(s).
Published: 2019

9. Genome-wide association study of germline variants and breast cancer-specific mortality.

Author: Garcia-Closas M., Moreno F., Mulligan A.M., Mulot C., Nassir R., Neuhausen S.L., Newman W.T., Nielsen S.F., Nordestgaard B.G., Norman A., Olsson H., Orr N., Pankratz V.S., Park-Simon T.-W., Perez J.I.A., Perez-Barrios C., Peterlongo P., Petridis C., Pinchev M., Prajzendanc K., Prentice R., Presneau N., Prokofieva D., Pylkas K., Rack B., Radice P., Ramachandran D., Rennert G., Rennert H.S., Rhenius V., Romero A., Roylance R., Saloustros E., Sawyer E.J., Schmidt D.F., Schmutzler R.K., Schneeweiss A., Schoemaker M.J., Schumacher F., Schwentner L., Scott R.J., Scott C., Seynaeve C., Shah M., Simard J., Smeets A., Sohn C., Southey M.C., Swerdlow A.J., Talhouk A., Tamimi R.M., Tapper W.J., Teixeira M.R., Tengstrom M., Terry M.B., Thone K., Tollenaar R.A.E.M., Tomlinson I., Torres D., Truong T., Turman C., Turnbull C., Ulmer H.-U., Untch M., Vachon C., van Asperen C.J., van den Ouweland A.M.W., van Veen E.M., Wendt C., Whittemore A.S., Willett W., Winqvist R., Wolk A., Yang X.R., Zhang Y., Easton D.F., Fasching P.A., Nevanlinna H., Eccles D.M., Pharoah P.D.P., Schmidt M.K., Escala-Garcia M., Guo Q., Dork T., Canisius S., Keeman R., Dennis J., Beesley J., Lecarpentier J., Bolla M.K., Wang Q., Abraham J., Andrulis I.L., Anton-Culver H., Arndt V., Auer P.L., Beckmann M.W., Behrens S., Benitez J., Bermisheva M., Bernstein L., Blomqvist C., Boeckx B., Bojesen S.E., Bonanni B., Borresen-Dale A.-L., Brauch H., Brenner H., Brentnall A., Brinton L., Broberg P., Brock I.W., Brucker S.Y., Burwinkel B., Caldas C., Caldes T., Campa D., Canzian F., Carracedo A., Carter B.D., Castelao J.E., Chang-Claude J., Chanock S.J., Chenevix-Trench G., Cheng T.-Y.D., Chin S.-F., Clarke C.L., Cordina-Duverger E., Couch F.J., Cox D.G., Cox A., Cross S.S., Czene K., Daly M.B., Devilee P., Dunn J.A., Dunning A.M., Durcan L., Dwek M., Earl H.M., Ekici A.B., Eliassen A.H., Ellberg C., Engel C., Eriksson M., Evans D.G., Figueroa J., Flesch-Janys D., Flyger H., Gabrielson M., Gago-Dominguez M., Galle E., Gapstur S.M., Garcia-Saenz J.A., Gaudet M.M., George A., Georgoulias V., Giles G.G., Glendon G., Goldgar D.E., Gonzalez-Neira A., Alnaes G.I.G., Grip M., Guenel P., Haeberle L., Hahnen E., Haiman C.A., Hakansson N., Hall P., Hamann U., Hankinson S., Harkness E.F., Harrington P.A., Hart S.N., Hartikainen J.M., Hein A., Hillemanns P., Hiller L., Holleczek B., Hollestelle A., Hooning M.J., Hoover R.N., Hopper J.L., Howell A., Huang G., Humphreys K., Hunter D.J., Janni W., John E.M., Jones M.E., Jukkola-Vuorinen A., Jung A., Kaaks R., Kabisch M., Kaczmarek K., Kerin M.J., Khan S., Khusnutdinova E., Kiiski J.I., Kitahara C.M., Knight J.A., Ko Y.-D., Koppert L.B., Kosma V.-M., Kraft P., Kristensen V.N., Kruger U., Kuhl T., Lambrechts D., Le Marchand L., Lee E., Lejbkowicz F., Li L., Lindblom A., Lindstrom S., Linet M., Lissowska J., Lo W.-Y., Loibl S., Lubinski J., Lux M.P., MacInnis R.J., Maierthaler M., Maishman T., Makalic E., Mannermaa A., Manoochehri M., Manoukian S., Margolin S., Martinez M.E., Mavroudis D., McLean C., Meindl A., Middha P., Miller N., Milne R.L., Garcia-Closas M., Moreno F., Mulligan A.M., Mulot C., Nassir R., Neuhausen S.L., Newman W.T., Nielsen S.F., Nordestgaard B.G., Norman A., Olsson H., Orr N., Pankratz V.S., Park-Simon T.-W., Perez J.I.A., Perez-Barrios C., Peterlongo P., Petridis C., Pinchev M., Prajzendanc K., Prentice R., Presneau N., Prokofieva D., Pylkas K., Rack B., Radice P., Ramachandran D., Rennert G., Rennert H.S., Rhenius V., Romero A., Roylance R., Saloustros E., Sawyer E.J., Schmidt D.F., Schmutzler R.K., Schneeweiss A., Schoemaker M.J., Schumacher F., Schwentner L., Scott R.J., Scott C., Seynaeve C., Shah M., Simard J., Smeets A., Sohn C., Southey M.C., Swerdlow A.J., Talhouk A., Tamimi R.M., Tapper W.J., Teixeira M.R., Tengstrom M., Terry M.B., Thone K., Tollenaar R.A.E.M., Tomlinson I., Torres D., Truong T., Turman C., Turnbull C., Ulmer H.-U., Untch M., Vachon C., van Asperen C.J., van den Ouweland A.M.W., van Veen E.M., Wendt C., Whittemore A.S., Willett W., Winqvist R., Wolk A., Yang X.R., Zhang Y., Easton D.F., Fasching P.A., Nevanlinna H., Eccles D.M., Pharoah P.D.P., Schmidt M.K., Escala-Garcia M., Guo Q., Dork T., Canisius S., Keeman R., Dennis J., Beesley J., Lecarpentier J., Bolla M.K., Wang Q., Abraham J., Andrulis I.L., Anton-Culver H., Arndt V., Auer P.L., Beckmann M.W., Behrens S., Benitez J., Bermisheva M., Bernstein L., Blomqvist C., Boeckx B., Bojesen S.E., Bonanni B., Borresen-Dale A.-L., Brauch H., Brenner H., Brentnall A., Brinton L., Broberg P., Brock I.W., Brucker S.Y., Burwinkel B., Caldas C., Caldes T., Campa D., Canzian F., Carracedo A., Carter B.D., Castelao J.E., Chang-Claude J., Chanock S.J., Chenevix-Trench G., Cheng T.-Y.D., Chin S.-F., Clarke C.L., Cordina-Duverger E., Couch F.J., Cox D.G., Cox A., Cross S.S., Czene K., Daly M.B., Devilee P., Dunn J.A., Dunning A.M., Durcan L., Dwek M., Earl H.M., Ekici A.B., Eliassen A.H., Ellberg C., Engel C., Eriksson M., Evans D.G., Figueroa J., Flesch-Janys D., Flyger H., Gabrielson M., Gago-Dominguez M., Galle E., Gapstur S.M., Garcia-Saenz J.A., Gaudet M.M., George A., Georgoulias V., Giles G.G., Glendon G., Goldgar D.E., Gonzalez-Neira A., Alnaes G.I.G., Grip M., Guenel P., Haeberle L., Hahnen E., Haiman C.A., Hakansson N., Hall P., Hamann U., Hankinson S., Harkness E.F., Harrington P.A., Hart S.N., Hartikainen J.M., Hein A., Hillemanns P., Hiller L., Holleczek B., Hollestelle A., Hooning M.J., Hoover R.N., Hopper J.L., Howell A., Huang G., Humphreys K., Hunter D.J., Janni W., John E.M., Jones M.E., Jukkola-Vuorinen A., Jung A., Kaaks R., Kabisch M., Kaczmarek K., Kerin M.J., Khan S., Khusnutdinova E., Kiiski J.I., Kitahara C.M., Knight J.A., Ko Y.-D., Koppert L.B., Kosma V.-M., Kraft P., Kristensen V.N., Kruger U., Kuhl T., Lambrechts D., Le Marchand L., Lee E., Lejbkowicz F., Li L., Lindblom A., Lindstrom S., Linet M., Lissowska J., Lo W.-Y., Loibl S., Lubinski J., Lux M.P., MacInnis R.J., Maierthaler M., Maishman T., Makalic E., Mannermaa A., Manoochehri M., Manoukian S., Margolin S., Martinez M.E., Mavroudis D., McLean C., Meindl A., Middha P., Miller N., and Milne R.L.
Abstract: Background: We examined the associations between germline variants and breast cancer mortality using a large meta-analysis of women of European ancestry. Method(s): Meta-analyses included summary estimates based on Cox models of twelve datasets using ~10.4 million variants for 96,661 women with breast cancer and 7697 events (breast cancer-specific deaths). Oestrogen receptor (ER)-specific analyses were based on 64,171 ER-positive (4116) and 16,172 ER-negative (2125) patients. We evaluated the probability of a signal to be a true positive using the Bayesian false discovery probability (BFDP). Result(s): We did not find any variant associated with breast cancer-specific mortality at P < 5 x 10-8. For ER-positive disease, the most significantly associated variant was chr7:rs4717568 (BFDP = 7%, P = 1.28 x 10-7, hazard ratio [HR] = 0.88, 95% confidence interval [CI] = 0.84-0.92); the closest gene is AUTS2. For ER-negative disease, the most significant variant was chr7:rs67918676 (BFDP = 11%, P = 1.38 x 10-7, HR = 1.27, 95% CI = 1.16-1.39); located within a long intergenic non-coding RNA gene (AC004009.3), close to the HOXA gene cluster. Conclusion(s): We uncovered germline variants on chromosome 7 at BFDP < 15% close to genes for which there is biological evidence related to breast cancer outcome. However, the paucity of variants associated with mortality at genome-wide significance underpins the challenge in providing genetic-based individualised prognostic information for breast cancer patients.Copyright © 2019, The Author(s).
Published: 2019

10. Polygenic Risk Scores for Prediction of Breast Cancer and Breast Cancer Subtypes.

Author: Giles G.G., Bonanni B., Pinchev M., Plaseska-Karanfilska D., Polley E.C., Prentice R., Presneau N., Prokofyeva D., Purrington K., Pylkas K., Rack B., Radice P., Rau-Murthy R., Rennert G., Rennert H.S., Rhenius V., Robson M., Romero A., Ruddy K.J., Ruebner M., Saloustros E., Sandler D.P., Sawyer E.J., Schmidt D.F., Schmutzler R.K., Schneeweiss A., Schoemaker M.J., Schumacher F., Schurmann P., Schwentner L., Scott C., Scott R.J., Seynaeve C., Shah M., Sherman M.E., Shrubsole M.J., Shu X.-O., Slager S., Smeets A., Sohn C., Soucy P., Southey M.C., Spinelli J.J., Stegmaier C., Stone J., Swerdlow A.J., Tamimi R.M., Tapper W.J., Taylor J.A., Terry M.B., Thone K., Tollenaar R.A.E.M., Tomlinson I., Truong T., Tzardi M., Ulmer H.-U., Untch M., Vachon C.M., van Veen E.M., Vijai J., Weinberg C.R., Wendt C., Whittemore A.S., Wildiers H., Willett W., Winqvist R., Wolk A., Yang X.R., Yannoukakos D., Zhang Y., Zheng W., Ziogas A., Dunning A.M., Thompson D.J., Chenevix-Trench G., Chang-Claude J., Schmidt M.K., Hall P., Milne R.L., Pharoah P.D.P., Antoniou A.C., Chatterjee N., Kraft P., Garcia-Closas M., Simard J., Easton D.F., Allen J., Mavaddat N., Michailidou K., Dennis J., Lush M., Fachal L., Lee A., Tyrer J.P., Chen T.-H., Wang Q., Bolla M.K., Yang X., Adank M.A., Ahearn T., Aittomaki K., Andrulis I.L., Anton-Culver H., Antonenkova N.N., Arndt V., Aronson K.J., Auer P.L., Auvinen P., Barrdahl M., Beane Freeman L.E., Beckmann M.W., Behrens S., Benitez J., Bermisheva M., Bernstein L., Blomqvist C., Bogdanova N.V., Bojesen S.E., Borresen-Dale A.-L., Brauch H., Bremer M., Brenner H., Brentnall A., Brock I.W., Brooks-Wilson A., Brucker S.Y., Bruning T., Burwinkel B., Campa D., Carter B.D., Castelao J.E., Chanock S.J., Chlebowski R., Christiansen H., Clarke C.L., Collee J.M., Cordina-Duverger E., Cornelissen S., Couch F.J., Cox A., Cross S.S., Czene K., Daly M.B., Devilee P., Dork T., dos-Santos-Silva I., Dumont M., Durcan L., Dwek M., Eccles D.M., Ekici A.B., Eliassen A.H., Ellberg C., Engel C., Eriksson M., Evans D.G., Fasching P.A., Figueroa J., Fletcher O., Flyger H., Forsti A., Fritschi L., Gabrielson M., Gago-Dominguez M., Gapstur S.M., Garcia-Saenz J.A., Gaudet M.M., Georgoulias V., Gilyazova I.R., Glendon G., Goldberg M.S., Goldgar D.E., Gonzalez-Neira A., Grenaker Alnaes G.I., Grip M., Gronwald J., Grundy A., Guenel P., Haeberle L., Hahnen E., Haiman C.A., Hakansson N., Hamann U., Hankinson S.E., Harkness E.F., Hart S.N., He W., Hein A., Heyworth J., Hillemanns P., Hollestelle A., Hooning M.J., Hoover R.N., Hopper J.L., Howell A., Huang G., Humphreys K., Hunter D.J., Jakimovska M., Jakubowska A., Janni W., John E.M., Johnson N., Jones M.E., Jukkola-Vuorinen A., Jung A., Kaaks R., Kaczmarek K., Kataja V., Keeman R., Kerin M.J., Khusnutdinova E., Kiiski J.I., Knight J.A., Ko Y.-D., Kosma V.-M., Koutros S., Kristensen V.N., Kruger U., Kuhl T., Lambrechts D., Le Marchand L., Lee E., Lejbkowicz F., Lilyquist J., Lindblom A., Lindstrom S., Lissowska J., Lo W.-Y., Loibl S., Long J., Lubinski J., Lux M.P., MacInnis R.J., Maishman T., Makalic E., Maleva Kostovska I., Mannermaa A., Manoukian S., Margolin S., Martens J.W.M., Martinez M.E., Mavroudis D., McLean C., Meindl A., Menon U., Middha P., Miller N., Moreno F., Mulligan A.M., Mulot C., Munoz-Garzon V.M., Neuhausen S.L., Nevanlinna H., Neven P., Newman W.G., Nielsen S.F., Nordestgaard B.G., Norman A., Offit K., Olson J.E., Olsson H., Orr N., Pankratz V.S., Park-Simon T.-W., Perez J.I.A., Perez-Barrios C., Peterlongo P., Peto J., Giles G.G., Bonanni B., Pinchev M., Plaseska-Karanfilska D., Polley E.C., Prentice R., Presneau N., Prokofyeva D., Purrington K., Pylkas K., Rack B., Radice P., Rau-Murthy R., Rennert G., Rennert H.S., Rhenius V., Robson M., Romero A., Ruddy K.J., Ruebner M., Saloustros E., Sandler D.P., Sawyer E.J., Schmidt D.F., Schmutzler R.K., Schneeweiss A., Schoemaker M.J., Schumacher F., Schurmann P., Schwentner L., Scott C., Scott R.J., Seynaeve C., Shah M., Sherman M.E., Shrubsole M.J., Shu X.-O., Slager S., Smeets A., Sohn C., Soucy P., Southey M.C., Spinelli J.J., Stegmaier C., Stone J., Swerdlow A.J., Tamimi R.M., Tapper W.J., Taylor J.A., Terry M.B., Thone K., Tollenaar R.A.E.M., Tomlinson I., Truong T., Tzardi M., Ulmer H.-U., Untch M., Vachon C.M., van Veen E.M., Vijai J., Weinberg C.R., Wendt C., Whittemore A.S., Wildiers H., Willett W., Winqvist R., Wolk A., Yang X.R., Yannoukakos D., Zhang Y., Zheng W., Ziogas A., Dunning A.M., Thompson D.J., Chenevix-Trench G., Chang-Claude J., Schmidt M.K., Hall P., Milne R.L., Pharoah P.D.P., Antoniou A.C., Chatterjee N., Kraft P., Garcia-Closas M., Simard J., Easton D.F., Allen J., Mavaddat N., Michailidou K., Dennis J., Lush M., Fachal L., Lee A., Tyrer J.P., Chen T.-H., Wang Q., Bolla M.K., Yang X., Adank M.A., Ahearn T., Aittomaki K., Andrulis I.L., Anton-Culver H., Antonenkova N.N., Arndt V., Aronson K.J., Auer P.L., Auvinen P., Barrdahl M., Beane Freeman L.E., Beckmann M.W., Behrens S., Benitez J., Bermisheva M., Bernstein L., Blomqvist C., Bogdanova N.V., Bojesen S.E., Borresen-Dale A.-L., Brauch H., Bremer M., Brenner H., Brentnall A., Brock I.W., Brooks-Wilson A., Brucker S.Y., Bruning T., Burwinkel B., Campa D., Carter B.D., Castelao J.E., Chanock S.J., Chlebowski R., Christiansen H., Clarke C.L., Collee J.M., Cordina-Duverger E., Cornelissen S., Couch F.J., Cox A., Cross S.S., Czene K., Daly M.B., Devilee P., Dork T., dos-Santos-Silva I., Dumont M., Durcan L., Dwek M., Eccles D.M., Ekici A.B., Eliassen A.H., Ellberg C., Engel C., Eriksson M., Evans D.G., Fasching P.A., Figueroa J., Fletcher O., Flyger H., Forsti A., Fritschi L., Gabrielson M., Gago-Dominguez M., Gapstur S.M., Garcia-Saenz J.A., Gaudet M.M., Georgoulias V., Gilyazova I.R., Glendon G., Goldberg M.S., Goldgar D.E., Gonzalez-Neira A., Grenaker Alnaes G.I., Grip M., Gronwald J., Grundy A., Guenel P., Haeberle L., Hahnen E., Haiman C.A., Hakansson N., Hamann U., Hankinson S.E., Harkness E.F., Hart S.N., He W., 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Park-Simon T.-W., Perez J.I.A., Perez-Barrios C., Peterlongo P., and Peto J.
Abstract: Stratification of women according to their risk of breast cancer based on polygenic risk scores (PRSs) could improve screening and prevention strategies. Our aim was to develop PRSs, optimized for prediction of estrogen receptor (ER)-specific disease, from the largest available genome-wide association dataset and to empirically validate the PRSs in prospective studies. The development dataset comprised 94,075 case subjects and 75,017 control subjects of European ancestry from 69 studies, divided into training and validation sets. Samples were genotyped using genome-wide arrays, and single-nucleotide polymorphisms (SNPs) were selected by stepwise regression or lasso penalized regression. The best performing PRSs were validated in an independent test set comprising 11,428 case subjects and 18,323 control subjects from 10 prospective studies and 190,040 women from UK Biobank (3,215 incident breast cancers). For the best PRSs (313 SNPs), the odds ratio for overall disease per 1 standard deviation in ten prospective studies was 1.61 (95%CI: 1.57-1.65) with area under receiver-operator curve (AUC) = 0.630 (95%CI: 0.628-0.651). The lifetime risk of overall breast cancer in the top centile of the PRSs was 32.6%. Compared with women in the middle quintile, those in the highest 1% of risk had 4.37- and 2.78-fold risks, and those in the lowest 1% of risk had 0.16- and 0.27-fold risks, of developing ER-positive and ER-negative disease, respectively. Goodness-of-fit tests indicated that this PRS was well calibrated and predicts disease risk accurately in the tails of the distribution. This PRS is a powerful and reliable predictor of breast cancer risk that may improve breast cancer prevention programs.Copyright © 2018 The Authors
Published: 2019

11. A new test for plant bioaccessibility in sulphidic wastes and soils: A case study from the Wheal Maid historic tailings repository in Cornwall, UK

Author: van Veen, E.M., primary, Lottermoser, B.G., additional, Parbhakar-Fox, A., additional, Fox, N., additional, and Hunt, J., additional
Published: 2016
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11 results on '"van Veen E.M."'

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

2. Breast cancer risk genes - Association analysis in more than 113,000 women.

3. CYP3A7*1C allele: linking premenopausal oestrone and progesterone levels with risk of hormone receptor-positive breast cancers.

4. Combined Associations of a Polygenic Risk Score and Classical Risk Factors with Breast Cancer Risk.

5. Genome-wide association study identifies 32 novel breast cancer susceptibility loci from overall and subtype-specific analyses.

6. Breast Cancer Polygenic Risk Score and Contralateral Breast Cancer Risk.

7. Genome-wide association study of germline variants and breast cancer-specific mortality

8. The FANCM:p.Arg658* truncating variant is associated with risk of triple-negative breast cancer.

9. Genome-wide association study of germline variants and breast cancer-specific mortality.

10. Polygenic Risk Scores for Prediction of Breast Cancer and Breast Cancer Subtypes.

11. A new test for plant bioaccessibility in sulphidic wastes and soils: A case study from the Wheal Maid historic tailings repository in Cornwall, UK

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