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Familial ovarian cancer

MedGen UID:
1803368
•Concept ID:
C5679802
•
Neoplastic Process
Synonyms: Familial cancer of ovary; Familial malignant neoplasm of ovary; familial ovarian cancer; Familial ovarian malignant tumor; familial ovarian malignant tumor; familial ovarian malignant tumour; hereditary ovarian cancer
SNOMED CT: Familial ovarian cancer (1196879002); Familial malignant neoplasm of ovary (1196879002); Familial cancer of ovary (1196879002)
 
Monarch Initiative: MONDO:0016248
Orphanet: ORPHA213517

Definition

An instance of ovarian cancer that is caused by an inherited modification of the individual's genome. [from MONDO]

Professional guidelines

PubMed

High detection rate from genetic testing in BRCA-negative women with familial epithelial ovarian cancer.
Flaum N, Crosbie EJ, Edmondson R, Woodward ER, Lalloo F, Smith MJ, Schlecht H, Evans DG
Genet Med 2022 Dec;24(12):2578-2586. Epub 2022 Sep 28 doi: 10.1016/j.gim.2022.08.022. PMID: 36169650
No. 366-Gynaecologic Management of Hereditary Breast and Ovarian Cancer.
Jacobson M, Bernardini M, Sobel ML, Kim RH, McCuaig J, Allen L
J Obstet Gynaecol Can 2018 Nov;40(11):1497-1510. doi: 10.1016/j.jogc.2018.05.046. PMID: 30473125
Genetic screening by DNA technology: a systematic review of health economic evidence.
Rogowski W
Int J Technol Assess Health Care 2006 Summer;22(3):327-37. doi: 10.1017/s0266462306051221. PMID: 16984061

Curated

NCCN Clinical Practice Guidelines in Oncology (NCCN Guidelines®), Ovarian Cancer Including Fallopian Tube Cancer and Primary Peritoneal Cancer, 2024

UK NICE Clinical guideline (CG122), Ovarian cancer: recognition and initial management, 2023

NCCN Clinical Practice Guidelines in Oncology, Genetic/Familial High-Risk Assessment: Breast, Ovarian, and Pancreatic version 2.2022

Recent clinical studies

Etiology

A decade of RAD51C and RAD51D germline variants in cancer.
Boni J, Idani A, Roca C, Feliubadaló L, Tomiak E, Weber E, Foulkes WD, Orthwein A, El Haffaf Z, Lazaro C, Rivera B
Hum Mutat 2022 Mar;43(3):285-298. Epub 2021 Dec 30 doi: 10.1002/humu.24319. PMID: 34923718
Ovarian cancer population screening and mortality after long-term follow-up in the UK Collaborative Trial of Ovarian Cancer Screening (UKCTOCS): a randomised controlled trial.
Menon U, Gentry-Maharaj A, Burnell M, Singh N, Ryan A, Karpinskyj C, Carlino G, Taylor J, Massingham SK, Raikou M, Kalsi JK, Woolas R, Manchanda R, Arora R, Casey L, Dawnay A, Dobbs S, Leeson S, Mould T, Seif MW, Sharma A, Williamson K, Liu Y, Fallowfield L, McGuire AJ, Campbell S, Skates SJ, Jacobs IJ, Parmar M
Lancet 2021 Jun 5;397(10290):2182-2193. Epub 2021 May 12 doi: 10.1016/S0140-6736(21)00731-5. PMID: 33991479Free PMC Article
Contribution of Germline Mutations in the RAD51B, RAD51C, and RAD51D Genes to Ovarian Cancer in the Population.
Song H, Dicks E, Ramus SJ, Tyrer JP, Intermaggio MP, Hayward J, Edlund CK, Conti D, Harrington P, Fraser L, Philpott S, Anderson C, Rosenthal A, Gentry-Maharaj A, Bowtell DD, Alsop K, Cicek MS, Cunningham JM, Fridley BL, Alsop J, Jimenez-Linan M, Høgdall E, Høgdall CK, Jensen A, Kjaer SK, Lubiński J, Huzarski T, Jakubowska A, Gronwald J, Poblete S, Lele S, Sucheston-Campbell L, Moysich KB, Odunsi K, Goode EL, Menon U, Jacobs IJ, Gayther SA, Pharoah PD
J Clin Oncol 2015 Sep 10;33(26):2901-7. Epub 2015 Aug 10 doi: 10.1200/JCO.2015.61.2408. PMID: 26261251Free PMC Article
Familial ovarian cancer.
Volm T
Curr Womens Health Rep 2002 Feb;2(1):34-8. PMID: 12112981
Familial ovarian cancer. Update and clinical applications.
Claus EB, Schwartz PE
Cancer 1995 Nov 15;76(10 Suppl):1998-2003. doi: 10.1002/1097-0142(19951115)76:10+<1998::aid-cncr2820761316>3.0.co;2-9. PMID: 8634991

Diagnosis

Ovarian cancer population screening and mortality after long-term follow-up in the UK Collaborative Trial of Ovarian Cancer Screening (UKCTOCS): a randomised controlled trial.
Menon U, Gentry-Maharaj A, Burnell M, Singh N, Ryan A, Karpinskyj C, Carlino G, Taylor J, Massingham SK, Raikou M, Kalsi JK, Woolas R, Manchanda R, Arora R, Casey L, Dawnay A, Dobbs S, Leeson S, Mould T, Seif MW, Sharma A, Williamson K, Liu Y, Fallowfield L, McGuire AJ, Campbell S, Skates SJ, Jacobs IJ, Parmar M
Lancet 2021 Jun 5;397(10290):2182-2193. Epub 2021 May 12 doi: 10.1016/S0140-6736(21)00731-5. PMID: 33991479Free PMC Article
Peripheral blood BRCA1 methylation profiling to predict familial ovarian cancer.
Jung Y, Hur S, Liu J, Lee S, Kang BS, Kim M, Choi YJ
J Gynecol Oncol 2021 Mar;32(2):e23. Epub 2021 Jan 7 doi: 10.3802/jgo.2021.32.e23. PMID: 33470065Free PMC Article
Prophylactic surgery and other strategies for reducing the risk of familial ovarian cancer.
Swisher E
Curr Treat Options Oncol 2003 Apr;4(2):105-10. doi: 10.1007/s11864-003-0011-1. PMID: 12594936
Familial ovarian cancer and early ovarian cancer: biologic, pathologic, and clinical features.
Werness BA, Eltabbakh GH
Int J Gynecol Pathol 2001 Jan;20(1):48-63. doi: 10.1097/00004347-200101000-00005. PMID: 11192072
Familial ovarian cancer.
Buller RE, Anderson B, Connor JP, Robinson R
Gynecol Oncol 1993 Nov;51(2):160-6. doi: 10.1006/gyno.1993.1265. PMID: 7903948

Therapy

Ovarian cancer population screening and mortality after long-term follow-up in the UK Collaborative Trial of Ovarian Cancer Screening (UKCTOCS): a randomised controlled trial.
Menon U, Gentry-Maharaj A, Burnell M, Singh N, Ryan A, Karpinskyj C, Carlino G, Taylor J, Massingham SK, Raikou M, Kalsi JK, Woolas R, Manchanda R, Arora R, Casey L, Dawnay A, Dobbs S, Leeson S, Mould T, Seif MW, Sharma A, Williamson K, Liu Y, Fallowfield L, McGuire AJ, Campbell S, Skates SJ, Jacobs IJ, Parmar M
Lancet 2021 Jun 5;397(10290):2182-2193. Epub 2021 May 12 doi: 10.1016/S0140-6736(21)00731-5. PMID: 33991479Free PMC Article
Contribution of Germline Mutations in the RAD51B, RAD51C, and RAD51D Genes to Ovarian Cancer in the Population.
Song H, Dicks E, Ramus SJ, Tyrer JP, Intermaggio MP, Hayward J, Edlund CK, Conti D, Harrington P, Fraser L, Philpott S, Anderson C, Rosenthal A, Gentry-Maharaj A, Bowtell DD, Alsop K, Cicek MS, Cunningham JM, Fridley BL, Alsop J, Jimenez-Linan M, Høgdall E, Høgdall CK, Jensen A, Kjaer SK, Lubiński J, Huzarski T, Jakubowska A, Gronwald J, Poblete S, Lele S, Sucheston-Campbell L, Moysich KB, Odunsi K, Goode EL, Menon U, Jacobs IJ, Gayther SA, Pharoah PD
J Clin Oncol 2015 Sep 10;33(26):2901-7. Epub 2015 Aug 10 doi: 10.1200/JCO.2015.61.2408. PMID: 26261251Free PMC Article
Familial ovarian cancer.
Elit L
Can Fam Physician 2001 Apr;47:778-84. PMID: 11340759Free PMC Article
Etiology, biology, and epidemiology of ovarian cancer.
Baker TR, Piver MS
Semin Surg Oncol 1994 Jul-Aug;10(4):242-8. doi: 10.1002/ssu.2980100403. PMID: 8091065
Should women with familial ovarian cancer undergo prophylactic oophorectomy?
Kerlikowske K, Brown JS, Grady DG
Obstet Gynecol 1992 Oct;80(4):700-7. PMID: 1407898

Prognosis

Ovarian cancer population screening and mortality after long-term follow-up in the UK Collaborative Trial of Ovarian Cancer Screening (UKCTOCS): a randomised controlled trial.
Menon U, Gentry-Maharaj A, Burnell M, Singh N, Ryan A, Karpinskyj C, Carlino G, Taylor J, Massingham SK, Raikou M, Kalsi JK, Woolas R, Manchanda R, Arora R, Casey L, Dawnay A, Dobbs S, Leeson S, Mould T, Seif MW, Sharma A, Williamson K, Liu Y, Fallowfield L, McGuire AJ, Campbell S, Skates SJ, Jacobs IJ, Parmar M
Lancet 2021 Jun 5;397(10290):2182-2193. Epub 2021 May 12 doi: 10.1016/S0140-6736(21)00731-5. PMID: 33991479Free PMC Article
Peripheral blood BRCA1 methylation profiling to predict familial ovarian cancer.
Jung Y, Hur S, Liu J, Lee S, Kang BS, Kim M, Choi YJ
J Gynecol Oncol 2021 Mar;32(2):e23. Epub 2021 Jan 7 doi: 10.3802/jgo.2021.32.e23. PMID: 33470065Free PMC Article
Contribution of Germline Mutations in the RAD51B, RAD51C, and RAD51D Genes to Ovarian Cancer in the Population.
Song H, Dicks E, Ramus SJ, Tyrer JP, Intermaggio MP, Hayward J, Edlund CK, Conti D, Harrington P, Fraser L, Philpott S, Anderson C, Rosenthal A, Gentry-Maharaj A, Bowtell DD, Alsop K, Cicek MS, Cunningham JM, Fridley BL, Alsop J, Jimenez-Linan M, Høgdall E, Høgdall CK, Jensen A, Kjaer SK, Lubiński J, Huzarski T, Jakubowska A, Gronwald J, Poblete S, Lele S, Sucheston-Campbell L, Moysich KB, Odunsi K, Goode EL, Menon U, Jacobs IJ, Gayther SA, Pharoah PD
J Clin Oncol 2015 Sep 10;33(26):2901-7. Epub 2015 Aug 10 doi: 10.1200/JCO.2015.61.2408. PMID: 26261251Free PMC Article
Familial ovarian cancer and early ovarian cancer: biologic, pathologic, and clinical features.
Werness BA, Eltabbakh GH
Int J Gynecol Pathol 2001 Jan;20(1):48-63. doi: 10.1097/00004347-200101000-00005. PMID: 11192072
Familial ovarian cancer.
Buller RE, Anderson B, Connor JP, Robinson R
Gynecol Oncol 1993 Nov;51(2):160-6. doi: 10.1006/gyno.1993.1265. PMID: 7903948

Clinical prediction guides

Ovarian cancer population screening and mortality after long-term follow-up in the UK Collaborative Trial of Ovarian Cancer Screening (UKCTOCS): a randomised controlled trial.
Menon U, Gentry-Maharaj A, Burnell M, Singh N, Ryan A, Karpinskyj C, Carlino G, Taylor J, Massingham SK, Raikou M, Kalsi JK, Woolas R, Manchanda R, Arora R, Casey L, Dawnay A, Dobbs S, Leeson S, Mould T, Seif MW, Sharma A, Williamson K, Liu Y, Fallowfield L, McGuire AJ, Campbell S, Skates SJ, Jacobs IJ, Parmar M
Lancet 2021 Jun 5;397(10290):2182-2193. Epub 2021 May 12 doi: 10.1016/S0140-6736(21)00731-5. PMID: 33991479Free PMC Article
Peripheral blood BRCA1 methylation profiling to predict familial ovarian cancer.
Jung Y, Hur S, Liu J, Lee S, Kang BS, Kim M, Choi YJ
J Gynecol Oncol 2021 Mar;32(2):e23. Epub 2021 Jan 7 doi: 10.3802/jgo.2021.32.e23. PMID: 33470065Free PMC Article
Contribution of Germline Mutations in the RAD51B, RAD51C, and RAD51D Genes to Ovarian Cancer in the Population.
Song H, Dicks E, Ramus SJ, Tyrer JP, Intermaggio MP, Hayward J, Edlund CK, Conti D, Harrington P, Fraser L, Philpott S, Anderson C, Rosenthal A, Gentry-Maharaj A, Bowtell DD, Alsop K, Cicek MS, Cunningham JM, Fridley BL, Alsop J, Jimenez-Linan M, Høgdall E, Høgdall CK, Jensen A, Kjaer SK, Lubiński J, Huzarski T, Jakubowska A, Gronwald J, Poblete S, Lele S, Sucheston-Campbell L, Moysich KB, Odunsi K, Goode EL, Menon U, Jacobs IJ, Gayther SA, Pharoah PD
J Clin Oncol 2015 Sep 10;33(26):2901-7. Epub 2015 Aug 10 doi: 10.1200/JCO.2015.61.2408. PMID: 26261251Free PMC Article
Familial ovarian cancer and early ovarian cancer: biologic, pathologic, and clinical features.
Werness BA, Eltabbakh GH
Int J Gynecol Pathol 2001 Jan;20(1):48-63. doi: 10.1097/00004347-200101000-00005. PMID: 11192072
Familial ovarian cancer.
van Eijkeren MA, de Graaff J, van Etten FH
Eur J Obstet Gynecol Reprod Biol 1992 Dec 28;47(3):263-6. doi: 10.1016/0028-2243(92)90164-t. PMID: 1294418

Recent systematic reviews

Effectiveness of decision aids for female BRCA1 and BRCA2 mutation carriers: a systematic review.
Krassuski L, Vennedey V, Stock S, Kautz-Freimuth S
BMC Med Inform Decis Mak 2019 Aug 1;19(1):154. doi: 10.1186/s12911-019-0872-2. PMID: 31370837Free PMC Article
Prevalence of BRCA mutations among hereditary breast and/or ovarian cancer patients in Arab countries: systematic review and meta-analysis.
Abdulrashid K, AlHussaini N, Ahmed W, Thalib L
BMC Cancer 2019 Mar 21;19(1):256. doi: 10.1186/s12885-019-5463-1. PMID: 30898109Free PMC Article

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    Clinical resources

    Practice guidelines

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      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.

    Curated

    • NCCN, 2024
      NCCN Clinical Practice Guidelines in Oncology (NCCN Guidelines®), Ovarian Cancer Including Fallopian Tube Cancer and Primary Peritoneal Cancer, 2024
    • NICE, 2023
      UK NICE Clinical guideline (CG122), Ovarian cancer: recognition and initial management, 2023
    • NCCN, 2022
      NCCN Clinical Practice Guidelines in Oncology, Genetic/Familial High-Risk Assessment: Breast, Ovarian, and Pancreatic version 2.2022

    Reviews

    Related information

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      Related medical variations
    • GTR
      Related information in GTR
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      Clinical tests in GTR
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      Related literature resources in PubMed

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