A Likelihood Ratio Approach for Utilizing Case-Control Data in the Clinical Classification of Rare Sequence Variants: Application to BRCA1 and BRCA2

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Fältnamn	Indikatorer	Metadata
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003		SwePub
008		240119s2023 \| \|\|\|\|\|\|\|\|\|\|\|000 \|\|eng\|
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024	7	a https://urn.kb.se/resolve?urn=urn:nbn:se:uu:diva-5212112 URI
024	7	a https://doi.org/10.1155/2023/99613412 DOI
024	7	a http://kipublications.ki.se/Default.aspx?queryparsed=id:1545765512 URI
024	7	a https://lup.lub.lu.se/record/6e4d0eae-2b6b-4a36-ac2f-123fd9df45002 URI
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100	1	a Zanti, Mariau Cyprus Inst Neurol & Genet, Biostat Unit, Nicosia, Cyprus.,Cyprus Institute of Neurology and Genetics4 aut
245	1 0	a A Likelihood Ratio Approach for Utilizing Case-Control Data in the Clinical Classification of Rare Sequence Variants :b Application to BRCA1 and BRCA2
264	1	b John Wiley & Sons,c 2023
338		a electronic2 rdacarrier
520		a A large number of variants identified through clinical genetic testing in disease susceptibility genes are of uncertain significance (VUS). Following the recommendations of the American College of Medical Genetics and Genomics (ACMG) and Association for Molecular Pathology (AMP), the frequency in case-control datasets (PS4 criterion) can inform their interpretation. We present a novel case-control likelihood ratio-based method that incorporates gene-specific age-related penetrance. We demonstrate the utility of this method in the analysis of simulated and real datasets. In the analysis of simulated data, the likelihood ratio method was more powerful compared to other methods. Likelihood ratios were calculated for a case-control dataset of BRCA1 and BRCA2 variants from the Breast Cancer Association Consortium (BCAC) and compared with logistic regression results. A larger number of variants reached evidence in favor of pathogenicity, and a substantial number of variants had evidence against pathogenicity-findings that would not have been reached using other case-control analysis methods. Our novel method provides greater power to classify rare variants compared with classical case-control methods. As an initiative from the ENIGMA Analytical Working Group, we provide user-friendly scripts and preformatted Excel calculators for implementation of the method for rare variants in BRCA1, BRCA2, and other high-risk genes with known penetrance.
650	7	a MEDICIN OCH HÄLSOVETENSKAPx Klinisk medicinx Cancer och onkologi0 (SwePub)302032 hsv//swe
650	7	a MEDICAL AND HEALTH SCIENCESx Clinical Medicinex Cancer and Oncology0 (SwePub)302032 hsv//eng
650	7	a MEDICIN OCH HÄLSOVETENSKAPx Medicinska och farmaceutiska grundvetenskaperx Medicinsk genetik0 (SwePub)301072 hsv//swe
650	7	a MEDICAL AND HEALTH SCIENCESx Basic Medicinex Medical Genetics0 (SwePub)301072 hsv//eng
700	1	a O'Mahony, Denise G.u Cyprus Inst Neurol & Genet, Biostat Unit, Nicosia, Cyprus.,Canc Council Victoria, Canc Epidemiol Div, Melbourne, Vic, Australia.;Univ Melbourne, Melbourne Sch Populat & Global Hlth, Ctr Epidemiol & Biostat, Melbourne, Vic, Australia.;Monash Univ, Sch Clin Sci, Precis Med, Monash Hlth, Clayton, Vic, Australia.,Mt Sinai Hosp, Lunenfeld Tanenbaum Res Inst, Fred A Litwin Ctr Canc Genet, Toronto, ON, Canada.4 aut
700	1	a Parsons, Michael T.u QIMR Berghofer Med Res Inst, Populat Hlth Program, Brisbane, Qld, Australia.4 aut
700	1	a Li, Hongyanu Univ Utah, Huntsman Canc Inst, Canc Control & Populat Sci, Salt Lake City, UT USA.4 aut
700	1	a Dennis, Joeu Univ Cambridge, Dept Publ Hlth & Primary Care, Ctr Canc Genet Epidemiol, Cambridge, England.4 aut
700	1	a Aittomakkiki, Kristiinau Univ Helsinki, Dept Clin Genet, Helsinki Univ Hosp, Helsinki, Finland.4 aut
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700	1	a Anton-Culver, Hodau Univ Calif Irvine, Dept Med, Genet Epidemiol Res Inst, Irvine, CA 92717 USA.4 aut
700	1	a Aronson, Kristan J.u Queens Univ, Dept Publ Hlth Sci, Kingston, ON, Canada.;Queens Univ, Canc Res Inst, Kingston, ON, Canada.4 aut
700	1	a Augustinsson, A.u Lund University,Lunds universitet,LUCC: Lunds universitets cancercentrum,Övriga starka forskningsmiljöer,LUCC: Lund University Cancer Centre,Other Strong Research Environments4 aut0 (Swepub:lu)med-aea
700	1	a Becher, Heikou Univ Med Ctr Hamburg Eppendorf, Inst Med Biometry & Epidemiol, Hamburg, Germany.4 aut
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700	1	a Gentry-Maharaj, Aleksandrau UCL, MRC Clin Trials Unit, Inst Clin Trials & Methodol, London, England.4 aut
700	1	a Geurts-Giele, Willemina R. R.u Erasmus Univ, Dept Clin Genet, Med Ctr, Rotterdam, Netherlands.4 aut
700	1	a Giles, Graham G.u Canc Council Victoria, Canc Epidemiol Div, Melbourne, Vic, Australia.;Univ Melbourne, Melbourne Sch Populat & Global Hlth, Ctr Epidemiol & Biostat, Melbourne, Vic, Australia.;Monash Univ, Sch Clin Sci, Precis Med, Monash Hlth, Clayton, Vic, Australia.,Univ Manchester, Manchester Acad Hlth Sci Ctr, Fac Biol Med & Hlth, Div Evolut & Genom Sci,Sch Biol Sci, Manchester, Lancs, England.;Manchester Univ NHS Fdn Trust, St Marys Hosp, Manchester Acad Hlth Sci Ctr, North West Genom Lab Hub,Manchester Ctr Genom Med, Manchester, Lancs, England.,Leiden Univ, Dept Human Genet, Med Ctr, Leiden, Netherlands.4 aut
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700	1	a Hahnen, Ericu Univ Cologne, Fac Med, Ctr Familial Breast & Ovarian Canc, Cologne, Germany.;Univ Cologne, Univ Hosp Cologne, Cologne, Germany.;Univ Cologne, Fac Med, Ctr Integrated Oncol CIO, Cologne, Germany.4 aut
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700	1	a Hogervorst, Frans B. L.u Antoni van Leeuwenhoek Hosp, Netherlands Canc Inst, Family Canc Clin, Amsterdam, Netherlands.4 aut
700	1	a Hollestelle, Antoinetteu Erasmus MC Canc Inst, Dept Med Oncol, Rotterdam, Netherlands.4 aut
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700	1	a Houdayer, Claudeu Dept Genet, F-76000 Rouen, France.;Normandy Univ, UNIROUEN, Inserm U1245, Rouen Univ Hosp,Normandy Ctr Genom & Personalized, Rouen, France.4 aut
700	1	a Houlston, Richard S.u Inst Canc Res, Div Genet & Epidemiol, London, England.4 aut
700	1	a Howell, Anthonyu Univ Manchester, Div Canc Sci, Manchester, Lancs, England.4 aut
700	1	a Investigators, Abctbu Univ Sydney, Westmead Inst Med Res, Australian Breast Canc Tissue Bank, Sydney, NSW, Australia.4 aut
700	1	a Jakimovska, Milenau MASA, Res Ctr Genet Engn & Biotechnol Georgi D Efremov, Skopje, North Macedonia.4 aut
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700	1	a Jernström, H.u Lund University,Lunds universitet,Epidemiologi och farmakogenetik,Forskargrupper vid Lunds universitet,LUCC: Lunds universitets cancercentrum,Övriga starka forskningsmiljöer,Cancerepidemiologi & strål,Sektion I,Institutionen för kliniska vetenskaper, Lund,Medicinska fakulteten,Epidemiology and pharmacogenetics,Lund University Research Groups,LUCC: Lund University Cancer Centre,Other Strong Research Environments,Cancerepidemiology and radiation,Section I,Department of Clinical Sciences, Lund,Faculty of Medicine4 aut0 (Swepub:lu)onk-hje
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700	1	a Lambrechts, Dietheru Katholieke Univ Leuven, Dept Human Genet, Lab Translat Genet, Leuven, Belgium.;VIB, VIB Ctr Canc Biol, Leuven, Belgium.4 aut
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700	1	a Mannermaa, Artou Univ Eastern Finland, Translat Canc Res Area, Kuopio, Finland.;Univ Eastern Finland, Inst Clin Med Pathol & Forens Med, Kuopio, Finland.;Kuopio Univ Hosp, Biobank Eastern Finland, Kuopio, Finland.4 aut
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700	1	a Martinez, Maria Elenau Univ Calif San Diego, Moores Canc Ctr, La Jolla, CA 92093 USA.;Univ Calif San Diego, Herbert Wertheim Sch Publ Hlth & Human Longev Sci, La Jolla, CA 92093 USA.4 aut
700	1	a Menon, Ushau UCL, MRC Clin Trials Unit, Inst Clin Trials & Methodol, London, England.4 aut
700	1	a Milne, Roger L.u Canc Council Victoria, Canc Epidemiol Div, Melbourne, Vic, Australia.;Univ Melbourne, Melbourne Sch Populat & Global Hlth, Ctr Epidemiol & Biostat, Melbourne, Vic, Australia.;Monash Univ, Sch Clin Sci, Precis Med, Monash Hlth, Clayton, Vic, Australia.4 aut
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700	1	a Murphy, Rachel A.u Univ British Columbia, Sch Populat & Publ Hlth, Vancouver, BC, Canada.;BC Canc, Canc Control Res, Vancouver, BC, Canada.4 aut
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700	1	a Stone, Jenniferu Univ Melbourne, Melbourne Sch Populat & Global Hlth, Ctr Epidemiol & Biostat, Melbourne, Vic, Australia.;Univ Western Australia, Sch Populat & Global Hlth, Genet Epidemiol Grp, Perth, WA, Australia.4 aut
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700	1	a Vega, Anau Ctr Invest Red Enfermedades Raras CIBERER, Madrid, Spain.;Fdn Publ Galega Med Xenom, Santiago De Compostela, Spain.;Complejo Hosp Univ Santiago, SERGAS, Inst Invest Sanitaria Santiago de Compostela IDIS, Santiago De Compostela, Spain.4 aut
700	1	a Vreeswijk, Maaike P. G.u Leiden Univ, Dept Human Genet, Med Ctr, Leiden, Netherlands.4 aut
700	1	a Wang, Qinu Univ Cambridge, Dept Publ Hlth & Primary Care, Ctr Canc Genet Epidemiol, Cambridge, England.4 aut
700	1	a Wappenschmidt, Barbarau Univ Cologne, Fac Med, Ctr Familial Breast & Ovarian Canc, Cologne, Germany.;Univ Cologne, Univ Hosp Cologne, Cologne, Germany.;Univ Cologne, Fac Med, Ctr Integrated Oncol CIO, Cologne, Germany.4 aut
700	1	a Weinberg, Clarice R.u NIEHS, Biostat & Computat Biol Branch, NIH, POB 12233, Res Triangle Pk, NC 27709 USA.4 aut
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700	1	a Zheng, Weiu Vanderbilt Univ, Dept Med, Vanderbilt Ingram Canc Ctr, Vanderbilt Epidemiol Ctr,Sch Med,Div Epidemiol, Nashville, TN USA.4 aut
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700	1	a Spurdle, Amanda B.u QIMR Berghofer Med Res Inst, Populat Hlth Program, Brisbane, Qld, Australia.4 aut
700	1	a Easton, Douglas F.u Univ Cambridge, Dept Publ Hlth & Primary Care, Ctr Canc Genet Epidemiol, Cambridge, England.;Univ Cambridge, Dept Oncol, Ctr Canc Genet Epidemiol, Cambridge, England.4 aut
700	1	a Goldgar, David E.u Univ Utah, Sch Med, Dept Dermatol, Huntsman Canc Inst, Salt Lake City, UT USA.4 aut
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710	2	a et al.
773	0	t Human Mutationd : John Wiley & Sonsg 2023q 2023x 1059-7794x 1098-1004
856	4	u https://doi.org/10.1155/2023/9961341y Fulltext
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856	4	u http://dx.doi.org/10.1155/2023/9961341x freey FULLTEXT
856	4 8	u https://urn.kb.se/resolve?urn=urn:nbn:se:uu:diva-521211
856	4 8	u https://doi.org/10.1155/2023/9961341
856	4 8	u http://kipublications.ki.se/Default.aspx?queryparsed=id:154576551
856	4 8	u https://lup.lub.lu.se/record/6e4d0eae-2b6b-4a36-ac2f-123fd9df4500

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Human Mutation (Sök värdpublikationen i LIBRIS)

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Av författaren/redakt...: Zanti, Maria; O'Mahony, Denise ...; Parsons, Michael ...; Li, Hongyan; Dennis, Joe; Aittomakkiki, Kr ...; visa fler...; Andrulis, Irene ...; Anton-Culver, Ho ...; Aronson, Kristan ...; Augustinsson, A.; Becher, Heiko; Bojesen, Stig E.; Bolla, Manjeet K ...; Brenner, Hermann; Brown, Melissa A ...; Buys, Saundra S.; Canzian, Federic ...; Caputo, Sandrine ...; Castelao, Jose E ...; Chang-Claude, Je ...; Czene, Kamila; Daly, Mary B.; De Nicolo, Arcan ...; Devilee, Peter; Dork, Thilo; Dunning, Alison ...; Dwek, Miriam; Eccles, Diana M.; Engel, Christoph; Evans, D. Gareth; Fasching, Peter ...; Gago-Dominguez, ...; Garcia-Closas, M ...; Garcia-Saenz, Jo ...; Gentry-Maharaj, ...; Geurts-Giele, Wi ...; Giles, Graham G.; Glendon, Gord; Goldberg, Mark S ...; Garcia, Encarna ...; Guendert, Melani ...; Guenel, Pascal; Hahnen, Eric; Haiman, Christop ...; Hall, Per; Hamann, Ute; Harkness, Elaine ...; Hogervorst, Fran ...; Hollestelle, Ant ...; Hoppe, Reiner; Hopper, John L.; Houdayer, Claude; Houlston, Richar ...; Howell, Anthony; Investigators, A ...; Jakimovska, Mile ...; Jakubowska, Anna; Jernström, H.; John, Esther M.; Kaaks, Rudolf; Kitahara, Cari M ...; Koutros, Stella; Kraft, Peter; Kristensen, Vess ...; Lacey, James, V; Lambrechts, Diet ...; Leone, Melanie; Lindblom, Annika; Lush, Michael; Mannermaa, Arto; Manoochehri, Meh ...; Manoukian, Siran ...; Margolin, Sara; Martinez, Maria ...; Menon, Usha; Milne, Roger L.; Monteiro, Alvaro ...; Murphy, Rachel A ...; Neuhausen, Susan ...; Nevanlinna, Heli; Newman, William ...; Offit, Kenneth; Park, Sue K.; James, Paul; Peterlongo, Paol ...; Peto, Julian; Plaseska-Karanfi ...; Punie, Kevin; Radice, Paolo; Rashid, Muhammad ...; Rennert, Gad; Romero, Atocha; Rosenberg, Efrai ...; Saloustros, Emma ...; Sandler, Dale P.; Schmidt, Marjank ...; Schmutzler, Rita ...; Shu, Xiao-Ou; Simard, Jacques; Southey, Melissa ...; Stone, Jennifer; Stoppa-Lyonnet, ...; Tamimi, Rulla M.; Tapper, William ...; Taylor, Jack A.; Teo, Soo Hwang; Teras, Lauren R.; Terry, Mary Beth; Thomassen, Mads; Troester, Meliss ...; Vachon, Celine M ...; Vega, Ana; Vreeswijk, Maaik ...; Wang, Qin; Wappenschmidt, B ...; Weinberg, Claric ...; Wolk, Alicja; Zheng, Wei; Feng, Bingjian; Couch, Fergus J.; Spurdle, Amanda ...; Easton, Douglas ...; Goldgar, David E ...; Michailidou, Kyr ...; visa färre...

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MEDICIN OCH HÄLSOVETENSKAP: MEDICIN OCH HÄLS ...; och Klinisk medicin; och Cancer och onkol ...

MEDICIN OCH HÄLSOVETENSKAP: MEDICIN OCH HÄLS ...; och Medicinska och f ...; och Medicinsk geneti ...

Artiklar i publikationen: Human Mutation

Av lärosätet: Uppsala universitet; Karolinska Institutet; Lunds universitet

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