Hereditary ovarian carcinoma

Heterogeneity, molecular genetics, pathology, and management

Henry T. Lynch, Murray J. Casey, Carrie L. Snyder, Chhanda Bewtra, Jane F. Lynch, Matthew Butts, Andrew K. Godwin

Research output: Contribution to journalReview article

113 Citations (Scopus)

Abstract

Hereditary ovarian cancer accounts for at least 5% of the estimated 22,000 new cases of this disease during 2009. During this same time, over 15,000 will die from malignancy ascribed to ovarian origin. The bulk of these hereditary cases fits the hereditary breast-ovarian cancer syndrome, while virtually all of the remainder will be consonant with the Lynch syndrome, disorders which are autosomal dominantly inherited. Advances in molecular genetics have led to the identification of BRCA1 and BRCA2 gene mutations which predispose to the hereditary breast-ovarian cancer syndrome, and mutations in mismatch repair genes, the most common of which are MSH2 and MLH1, which predispose to Lynch syndrome. These discoveries enable relatively certain diagnosis, limited only by their variable penetrance, so that identification of mutation carriers through a comprehensive cancer family history might be possible. This paper reviews the subject of hereditary ovarian cancer, with particular attention to its molecular genetic basis, its pathology, and its phenotypic/genotypic heterogeneity.

Original languageEnglish
Pages (from-to)97-137
Number of pages41
JournalMolecular Oncology
Volume3
Issue number2
DOIs
StatePublished - Apr 2009

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Molecular Pathology
Hereditary Breast and Ovarian Cancer Syndrome
Hereditary Nonpolyposis Colorectal Neoplasms
Molecular Biology
Carcinoma
Ovarian Neoplasms
Mutation
BRCA2 Gene
BRCA1 Gene
DNA Mismatch Repair
Penetrance
Neoplasms
Pathology
Genes

All Science Journal Classification (ASJC) codes

  • Cancer Research
  • Genetics
  • Molecular Medicine

Cite this

Hereditary ovarian carcinoma : Heterogeneity, molecular genetics, pathology, and management. / Lynch, Henry T.; Casey, Murray J.; Snyder, Carrie L.; Bewtra, Chhanda; Lynch, Jane F.; Butts, Matthew; Godwin, Andrew K.

In: Molecular Oncology, Vol. 3, No. 2, 04.2009, p. 97-137.

Research output: Contribution to journalReview article

Lynch, Henry T. ; Casey, Murray J. ; Snyder, Carrie L. ; Bewtra, Chhanda ; Lynch, Jane F. ; Butts, Matthew ; Godwin, Andrew K. / Hereditary ovarian carcinoma : Heterogeneity, molecular genetics, pathology, and management. In: Molecular Oncology. 2009 ; Vol. 3, No. 2. pp. 97-137.
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