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Hereditary site-specific ovarian cancer syndrome

MedGen UID:
1650574
•Concept ID:
C4749652
•
Disease or Syndrome
Synonym: hereditary site-specific ovarian cancer syndrome
Modes of inheritance:
Autosomal dominant inheritance
MedGen UID:
141047
•Concept ID:
C0443147
•
Intellectual Product
Source: Orphanet
A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in heterozygotes. In the context of medical genetics, an autosomal dominant disorder is caused when a single copy of the mutant allele is present. Males and females are affected equally, and can both transmit the disorder with a risk of 50% for each child of inheriting the mutant allele.
Autosomal dominant inheritance (Orphanet)
 
Monarch Initiative: MONDO:0016249
Orphanet: ORPHA213524

Definition

Hereditary site-specific ovarian cancer syndrome refers to ovarian cancer caused by germline mutations in various genes, usually associated with additional cancer risks. The most common are breast and ovarian cancer syndrome (HBOC) due to mutations in <i>BRCA1</i> and <i>BRCA2</i> genes and hereditary nonpolyposis colorectal cancer (HNPCC) due to mutations in DNA mismatch-repair genes. Mutations in <i>STK11</i> gene, causing Peutz-Jeghers syndrome, are also associated with a risk of ovarian cancer (typically sex cord stromal tumors). Mutations in other genes, including <i>RAD51C</i>, <i>RAD51D</i>, <i>PALB2</i>, confer an elevated ovarian cancer risk in a minority of patients. [from ORDO]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • Hereditary site-specific ovarian cancer syndrome

Professional guidelines

PubMed

Genetic testing and prevention of hereditary cancer at the MMCI--over 10 years of experience.
Foretova L, Petrakova K, Palacova M, Kalabova R, Svoboda M, Navratilova M, Schneiderova M, Bolcak K, Krejci E, Drazan L, Mikova M, Hazova J, Vasickova P, Machackova E
Klin Onkol 2010;23(6):388-400. PMID: 21348412

Recent clinical studies

Etiology

Genetic testing and prevention of hereditary cancer at the MMCI--over 10 years of experience.
Foretova L, Petrakova K, Palacova M, Kalabova R, Svoboda M, Navratilova M, Schneiderova M, Bolcak K, Krejci E, Drazan L, Mikova M, Hazova J, Vasickova P, Machackova E
Klin Onkol 2010;23(6):388-400. PMID: 21348412
Hereditary ovarian cancer.
Russo A, Calò V, Bruno L, Rizzo S, Bazan V, Di Fede G
Crit Rev Oncol Hematol 2009 Jan;69(1):28-44. Epub 2008 Jul 24 doi: 10.1016/j.critrevonc.2008.06.003. PMID: 18656380
Hereditary ovarian cancer.
Prat J, Ribé A, Gallardo A
Hum Pathol 2005 Aug;36(8):861-70. doi: 10.1016/j.humpath.2005.06.006. PMID: 16112002
Hereditary breast cancer and family cancer syndromes.
Lynch HT, Lynch J, Conway T, Watson P, Feunteun J, Lenoir G, Narod S, Fitzgibbons R Jr
World J Surg 1994 Jan-Feb;18(1):21-31. doi: 10.1007/BF00348188. PMID: 8197773
Hereditary ovarian carcinoma.
Gallion HH, Smith SA
Semin Surg Oncol 1994 Jul-Aug;10(4):249-54. doi: 10.1002/ssu.2980100404. PMID: 8091066

Diagnosis

Genetic testing and prevention of hereditary cancer at the MMCI--over 10 years of experience.
Foretova L, Petrakova K, Palacova M, Kalabova R, Svoboda M, Navratilova M, Schneiderova M, Bolcak K, Krejci E, Drazan L, Mikova M, Hazova J, Vasickova P, Machackova E
Klin Onkol 2010;23(6):388-400. PMID: 21348412
Hereditary ovarian cancer.
Russo A, Calò V, Bruno L, Rizzo S, Bazan V, Di Fede G
Crit Rev Oncol Hematol 2009 Jan;69(1):28-44. Epub 2008 Jul 24 doi: 10.1016/j.critrevonc.2008.06.003. PMID: 18656380
Hereditary ovarian cancer.
Prat J, Ribé A, Gallardo A
Hum Pathol 2005 Aug;36(8):861-70. doi: 10.1016/j.humpath.2005.06.006. PMID: 16112002
Familial pancreatic carcinoma in Jews.
Lynch HT, Deters CA, Lynch JF, Brand RE
Fam Cancer 2004;3(3-4):233-40. doi: 10.1007/s10689-004-9549-8. PMID: 15516847
Hereditary ovarian cancer: a clinicopathological study.
Bewtra C, Watson P, Conway T, Read-Hippee C, Lynch HT
Int J Gynecol Pathol 1992 Jul;11(3):180-7. doi: 10.1097/00004347-199207000-00003. PMID: 1399227

Prognosis

Hereditary ovarian cancer.
Russo A, Calò V, Bruno L, Rizzo S, Bazan V, Di Fede G
Crit Rev Oncol Hematol 2009 Jan;69(1):28-44. Epub 2008 Jul 24 doi: 10.1016/j.critrevonc.2008.06.003. PMID: 18656380
Familial pancreatic carcinoma in Jews.
Lynch HT, Deters CA, Lynch JF, Brand RE
Fam Cancer 2004;3(3-4):233-40. doi: 10.1007/s10689-004-9549-8. PMID: 15516847
BRCA1 and BRCA2 mutations among Finnish ovarian carcinoma families.
Sarantaus L, Auranen A, Nevanlinna H
Int J Oncol 2001 Apr;18(4):831-5. doi: 10.3892/ijo.18.4.831. PMID: 11251181
Hereditary ovarian carcinoma.
Gallion HH, Smith SA
Semin Surg Oncol 1994 Jul-Aug;10(4):249-54. doi: 10.1002/ssu.2980100404. PMID: 8091066
Hereditary ovarian cancer. Heterogeneity in age at diagnosis.
Lynch HT, Watson P, Bewtra C, Conway TA, Hippee CR, Kaur P, Lynch JF, Ponder BA
Cancer 1991 Mar 1;67(5):1460-6. doi: 10.1002/1097-0142(19910301)67:5<1460::aid-cncr2820670534>3.0.co;2-s. PMID: 1991314

Clinical prediction guides

Is uterine papillary serous adenocarcinoma a manifestation of the hereditary breast-ovarian cancer syndrome?
Goshen R, Chu W, Elit L, Pal T, Hakimi J, Ackerman I, Fyles A, Mitchell M, Narod SA
Gynecol Oncol 2000 Dec;79(3):477-81. doi: 10.1006/gyno.2000.6003. PMID: 11104623
Is hereditary site-specific ovarian cancer a distinct genetic condition?
Liede A, Tonin PN, Sun CC, Serruya C, Daly MB, Narod SA, Foulkes WD
Am J Med Genet 1998 Jan 6;75(1):55-8. doi: 10.1002/(sici)1096-8628(19980106)75:1<55::aid-ajmg12>3.0.co;2-r. PMID: 9450858
Linkage analysis of early-onset breast and ovarian cancer families, with markers on the long arm of chromosome 17.
Spurr NK, Kelsell DP, Black DM, Murday VA, Turner G, Crockford GP, Solomon E, Cartwright RA, Bishop DT
Am J Hum Genet 1993 Apr;52(4):777-85. PMID: 8460643Free PMC Article
Hereditary ovarian cancer. Heterogeneity in age at diagnosis.
Lynch HT, Watson P, Bewtra C, Conway TA, Hippee CR, Kaur P, Lynch JF, Ponder BA
Cancer 1991 Mar 1;67(5):1460-6. doi: 10.1002/1097-0142(19910301)67:5<1460::aid-cncr2820670534>3.0.co;2-s. PMID: 1991314

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