U.S. flag

An official website of the United States government

Format

Send to:

Choose Destination

Increased risk in heterozygotes

MedGen UID:
395307
Concept ID:
C1859622
Finding

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVIncreased risk in heterozygotes

Professional guidelines

PubMed

Capalbo A, Valero RA, Jimenez-Almazan J, Pardo PM, Fabiani M, Jiménez D, Simon C, Rodriguez JM
PLoS Genet 2019 Oct;15(10):e1008409. Epub 2019 Oct 7 doi: 10.1371/journal.pgen.1008409. PMID: 31589614Free PMC Article
Kowdley KV, Brown KE, Ahn J, Sundaram V
Am J Gastroenterol 2019 Aug;114(8):1202-1218. doi: 10.14309/ajg.0000000000000315. PMID: 31335359
Nordestgaard BG, Chapman MJ, Humphries SE, Ginsberg HN, Masana L, Descamps OS, Wiklund O, Hegele RA, Raal FJ, Defesche JC, Wiegman A, Santos RD, Watts GF, Parhofer KG, Hovingh GK, Kovanen PT, Boileau C, Averna M, Borén J, Bruckert E, Catapano AL, Kuivenhoven JA, Pajukanta P, Ray K, Stalenhoef AF, Stroes E, Taskinen MR, Tybjærg-Hansen A; European Atherosclerosis Society Consensus Panel
Eur Heart J 2013 Dec;34(45):3478-90a. Epub 2013 Aug 15 doi: 10.1093/eurheartj/eht273. PMID: 23956253Free PMC Article

Recent clinical studies

Etiology

Polgreen PM, Comellas AP
Annu Rev Med 2022 Jan 27;73:563-574. doi: 10.1146/annurev-med-042120-020148. PMID: 35084992Free PMC Article
Bacchelli E, Cameli C, Viggiano M, Igliozzi R, Mancini A, Tancredi R, Battaglia A, Maestrini E
Sci Rep 2020 Feb 21;10(1):3198. doi: 10.1038/s41598-020-59922-3. PMID: 32081867Free PMC Article
Kotchetkoff ECA, Souza FIS, Fonseca FLA, Hix S, Ajzen SA, Shigueoka DC, Carvalho BTC, Sarni ROS
Rev Assoc Med Bras (1992) 2018 Feb;64(2):148-153. doi: 10.1590/1806-9282.64.02.148. PMID: 29641672
Zakaria S, Degnim AC
Surg Clin North Am 2007 Apr;87(2):317-31, viii. doi: 10.1016/j.suc.2007.01.009. PMID: 17498529
Fouchier SW, Kastelein JJ, Defesche JC
Hum Mutat 2005 Dec;26(6):550-6. doi: 10.1002/humu.20256. PMID: 16250003

Diagnosis

Polgreen PM, Comellas AP
Annu Rev Med 2022 Jan 27;73:563-574. doi: 10.1146/annurev-med-042120-020148. PMID: 35084992Free PMC Article
Gunnarsdottir SR, Bjarnason H, Thorvaldsdottir B, Paland F, Steinarsdottir M, Eyfjörd JE, Bödvarsdottir SK
Genes (Basel) 2021 Dec 28;13(1) doi: 10.3390/genes13010083. PMID: 35052422Free PMC Article
Yang X, Song H, Leslie G, Engel C, Hahnen E, Auber B, Horváth J, Kast K, Niederacher D, Turnbull C, Houlston R, Hanson H, Loveday C, Dolinsky JS, LaDuca H, Ramus SJ, Menon U, Rosenthal AN, Jacobs I, Gayther SA, Dicks E, Nevanlinna H, Aittomäki K, Pelttari LM, Ehrencrona H, Borg Å, Kvist A, Rivera B, Hansen TVO, Djursby M, Lee A, Dennis J, Bowtell DD, Traficante N, Diez O, Balmaña J, Gruber SB, Chenevix-Trench G, Investigators K, Jensen A, Kjær SK, Høgdall E, Castéra L, Garber J, Janavicius R, Osorio A, Golmard L, Vega A, Couch FJ, Robson M, Gronwald J, Domchek SM, Culver JO, de la Hoya M, Easton DF, Foulkes WD, Tischkowitz M, Meindl A, Schmutzler RK, Pharoah PDP, Antoniou AC
J Natl Cancer Inst 2020 Dec 14;112(12):1242-1250. doi: 10.1093/jnci/djaa030. PMID: 32107557Free PMC Article
Nordestgaard BG, Chapman MJ, Humphries SE, Ginsberg HN, Masana L, Descamps OS, Wiklund O, Hegele RA, Raal FJ, Defesche JC, Wiegman A, Santos RD, Watts GF, Parhofer KG, Hovingh GK, Kovanen PT, Boileau C, Averna M, Borén J, Bruckert E, Catapano AL, Kuivenhoven JA, Pajukanta P, Ray K, Stalenhoef AF, Stroes E, Taskinen MR, Tybjærg-Hansen A; European Atherosclerosis Society Consensus Panel
Eur Heart J 2013 Dec;34(45):3478-90a. Epub 2013 Aug 15 doi: 10.1093/eurheartj/eht273. PMID: 23956253Free PMC Article
Fouchier SW, Kastelein JJ, Defesche JC
Hum Mutat 2005 Dec;26(6):550-6. doi: 10.1002/humu.20256. PMID: 16250003

Therapy

Steenbeek MP, van Bommel MHD, Bulten J, Hulsmann JA, Bogaerts J, Garcia C, Cun HT, Lu KH, van Beekhuizen HJ, Minig L, Gaarenstroom KN, Nobbenhuis M, Krajc M, Rudaitis V, Norquist BM, Swisher EM, Mourits MJE, Massuger LFAG, Hoogerbrugge N, Hermens RPMG, IntHout J, de Hullu JA
J Clin Oncol 2022 Jun 10;40(17):1879-1891. Epub 2022 Mar 18 doi: 10.1200/JCO.21.02016. PMID: 35302882Free PMC Article
Harper AR, Goel A, Grace C, Thomson KL, Petersen SE, Xu X, Waring A, Ormondroyd E, Kramer CM, Ho CY, Neubauer S; HCMR Investigators, Tadros R, Ware JS, Bezzina CR, Farrall M, Watkins H
Nat Genet 2021 Feb;53(2):135-142. Epub 2021 Jan 25 doi: 10.1038/s41588-020-00764-0. PMID: 33495597Free PMC Article
Jonsson P, Bandlamudi C, Cheng ML, Srinivasan P, Chavan SS, Friedman ND, Rosen EY, Richards AL, Bouvier N, Selcuklu SD, Bielski CM, Abida W, Mandelker D, Birsoy O, Zhang L, Zehir A, Donoghue MTA, Baselga J, Offit K, Scher HI, O'Reilly EM, Stadler ZK, Schultz N, Socci ND, Viale A, Ladanyi M, Robson ME, Hyman DM, Berger MF, Solit DB, Taylor BS
Nature 2019 Jul;571(7766):576-579. Epub 2019 Jul 10 doi: 10.1038/s41586-019-1382-1. PMID: 31292550Free PMC Article
van Vlijmen EF, Wiewel-Verschueren S, Monster TB, Meijer K
J Thromb Haemost 2016 Jul;14(7):1393-403. Epub 2016 Jun 16 doi: 10.1111/jth.13349. PMID: 27121914
Nordestgaard BG, Chapman MJ, Humphries SE, Ginsberg HN, Masana L, Descamps OS, Wiklund O, Hegele RA, Raal FJ, Defesche JC, Wiegman A, Santos RD, Watts GF, Parhofer KG, Hovingh GK, Kovanen PT, Boileau C, Averna M, Borén J, Bruckert E, Catapano AL, Kuivenhoven JA, Pajukanta P, Ray K, Stalenhoef AF, Stroes E, Taskinen MR, Tybjærg-Hansen A; European Atherosclerosis Society Consensus Panel
Eur Heart J 2013 Dec;34(45):3478-90a. Epub 2013 Aug 15 doi: 10.1093/eurheartj/eht273. PMID: 23956253Free PMC Article

Prognosis

Fox S, Speirs V, Shaaban AM
Virchows Arch 2022 Jan;480(1):85-93. Epub 2021 Aug 30 doi: 10.1007/s00428-021-03190-7. PMID: 34458944
Burn J, Sheth H, Elliott F, Reed L, Macrae F, Mecklin JP, Möslein G, McRonald FE, Bertario L, Evans DG, Gerdes AM, Ho JWC, Lindblom A, Morrison PJ, Rashbass J, Ramesar R, Seppälä T, Thomas HJW, Pylvänäinen K, Borthwick GM, Mathers JC, Bishop DT; CAPP2 Investigators
Lancet 2020 Jun 13;395(10240):1855-1863. doi: 10.1016/S0140-6736(20)30366-4. PMID: 32534647Free PMC Article
Yang X, Song H, Leslie G, Engel C, Hahnen E, Auber B, Horváth J, Kast K, Niederacher D, Turnbull C, Houlston R, Hanson H, Loveday C, Dolinsky JS, LaDuca H, Ramus SJ, Menon U, Rosenthal AN, Jacobs I, Gayther SA, Dicks E, Nevanlinna H, Aittomäki K, Pelttari LM, Ehrencrona H, Borg Å, Kvist A, Rivera B, Hansen TVO, Djursby M, Lee A, Dennis J, Bowtell DD, Traficante N, Diez O, Balmaña J, Gruber SB, Chenevix-Trench G, Investigators K, Jensen A, Kjær SK, Høgdall E, Castéra L, Garber J, Janavicius R, Osorio A, Golmard L, Vega A, Couch FJ, Robson M, Gronwald J, Domchek SM, Culver JO, de la Hoya M, Easton DF, Foulkes WD, Tischkowitz M, Meindl A, Schmutzler RK, Pharoah PDP, Antoniou AC
J Natl Cancer Inst 2020 Dec 14;112(12):1242-1250. doi: 10.1093/jnci/djaa030. PMID: 32107557Free PMC Article
Zakaria S, Degnim AC
Surg Clin North Am 2007 Apr;87(2):317-31, viii. doi: 10.1016/j.suc.2007.01.009. PMID: 17498529
King MC, Marks JH, Mandell JB; New York Breast Cancer Study Group
Science 2003 Oct 24;302(5645):643-6. doi: 10.1126/science.1088759. PMID: 14576434

Clinical prediction guides

Yang X, Song H, Leslie G, Engel C, Hahnen E, Auber B, Horváth J, Kast K, Niederacher D, Turnbull C, Houlston R, Hanson H, Loveday C, Dolinsky JS, LaDuca H, Ramus SJ, Menon U, Rosenthal AN, Jacobs I, Gayther SA, Dicks E, Nevanlinna H, Aittomäki K, Pelttari LM, Ehrencrona H, Borg Å, Kvist A, Rivera B, Hansen TVO, Djursby M, Lee A, Dennis J, Bowtell DD, Traficante N, Diez O, Balmaña J, Gruber SB, Chenevix-Trench G, Investigators K, Jensen A, Kjær SK, Høgdall E, Castéra L, Garber J, Janavicius R, Osorio A, Golmard L, Vega A, Couch FJ, Robson M, Gronwald J, Domchek SM, Culver JO, de la Hoya M, Easton DF, Foulkes WD, Tischkowitz M, Meindl A, Schmutzler RK, Pharoah PDP, Antoniou AC
J Natl Cancer Inst 2020 Dec 14;112(12):1242-1250. doi: 10.1093/jnci/djaa030. PMID: 32107557Free PMC Article
Bacchelli E, Cameli C, Viggiano M, Igliozzi R, Mancini A, Tancredi R, Battaglia A, Maestrini E
Sci Rep 2020 Feb 21;10(1):3198. doi: 10.1038/s41598-020-59922-3. PMID: 32081867Free PMC Article
Hooper AJ, Hegele RA, Burnett JR
Curr Opin Lipidol 2020 Apr;31(2):80-84. doi: 10.1097/MOL.0000000000000669. PMID: 32022754
Kotchetkoff ECA, Souza FIS, Fonseca FLA, Hix S, Ajzen SA, Shigueoka DC, Carvalho BTC, Sarni ROS
Rev Assoc Med Bras (1992) 2018 Feb;64(2):148-153. doi: 10.1590/1806-9282.64.02.148. PMID: 29641672
Roberts R
Methodist Debakey Cardiovasc J 2014 Jan-Mar;10(1):7-12. doi: 10.14797/mdcj-10-1-7. PMID: 24932356Free PMC Article

Recent systematic reviews

Steenbeek MP, van Bommel MHD, Bulten J, Hulsmann JA, Bogaerts J, Garcia C, Cun HT, Lu KH, van Beekhuizen HJ, Minig L, Gaarenstroom KN, Nobbenhuis M, Krajc M, Rudaitis V, Norquist BM, Swisher EM, Mourits MJE, Massuger LFAG, Hoogerbrugge N, Hermens RPMG, IntHout J, de Hullu JA
J Clin Oncol 2022 Jun 10;40(17):1879-1891. Epub 2022 Mar 18 doi: 10.1200/JCO.21.02016. PMID: 35302882Free PMC Article
Huber D, Seitz S, Kast K, Emons G, Ortmann O
J Cancer Res Clin Oncol 2021 Jul;147(7):2035-2045. Epub 2021 Apr 22 doi: 10.1007/s00432-021-03629-z. PMID: 33885953Free PMC Article
Matanes E, Volodarsky-Perel A, Eisenberg N, Rottenstreich M, Yasmeen A, Mitric C, Lau S, Salvador S, Gotlieb WH, Kogan L
J Minim Invasive Gynecol 2021 May;28(5):947-956. Epub 2020 Nov 27 doi: 10.1016/j.jmig.2020.11.023. PMID: 33249269
Ludwig KK, Neuner J, Butler A, Geurts JL, Kong AL
Am J Surg 2016 Oct;212(4):660-669. Epub 2016 Jul 18 doi: 10.1016/j.amjsurg.2016.06.010. PMID: 27649974
van Vlijmen EF, Wiewel-Verschueren S, Monster TB, Meijer K
J Thromb Haemost 2016 Jul;14(7):1393-403. Epub 2016 Jun 16 doi: 10.1111/jth.13349. PMID: 27121914

Supplemental Content

Table of contents

    Practice guidelines

    • PubMed
      See practice and clinical guidelines in PubMed. The search results may include broader topics and may not capture all published guidelines. See the FAQ for details.
    • Bookshelf
      See practice and clinical guidelines in NCBI Bookshelf. The search results may include broader topics and may not capture all published guidelines. See the FAQ for details.

    Recent activity

    Your browsing activity is empty.

    Activity recording is turned off.

    Turn recording back on

    See more...