Current and future role of genetic screening in gynecologic malignancies

  title={Current and future role of genetic screening in gynecologic malignancies},
  author={Kari L Ring and Christine Garcia and Martha H Thomas and Susan C. Modesitt},
  journal={American Journal of Obstetrics and Gynecology},

Tables from this paper

Genetic counseling referral for ovarian cancer patients: a call to action

As only 68% of women with epithelial ovarian cancer were referred in 2015 innovative strategies such as Medicare coverage for counseling are still needed to universalize testing.

Beyond BRCA: Review of Hereditary Syndromes Predisposing to Breast Cancer

The 11 genes associated with high breast cancer risk discussed in the National Comprehensive Cancer Network Genetic/Familial High-Risk: Breast and Ovarian (version 3.2019) are outlined here to serve as a guide for breast cancer screening and risk reduction, as well as recommendations for surveillance of nonbreast cancers.

BRCA1/2 mutation status in patients with metachronous breast and ovarian malignancies: clues towards the implementation of genetic counseling

Pilot evidence that BRCA1/2 mutations are common in Taiwanese patients with metachronous breast and ovarian malignancies is provided, supporting the clinical utility of genetic counseling.

Germline and Somatic Tumor Testing in Gynecologic Cancer Care.

Ovarian cancer predisposition beyond BRCA1 and BRCA2 genes

The goal of this manuscript is to summarize the published data regarding the molecular pathways involved in the pathogenesis of non-BRCA related hereditary ovarian cancer and to provide a tool that might be useful in discussing risk assessment, genetic testing, prevention strategies, as well as clinical and therapeutic implications for patients with ovarian cancer.

Current Testing Guidelines: A Retrospective Analysis of a Community-Based Hereditary Cancer Program

A retrospective review of clinical histories of patients who had multigene panel testing between September 2015 and February 2019 through a cancer outreach and risk assessment (CORA) program to identify carriers of pathogenic variants or hereditary cancer syndrome who do not meet NCCN criteria for testing and compare the results with previous studies.

Frequency of mutations in 21 hereditary breast and ovarian cancer susceptibility genes among high-risk Chinese individuals

The results highlighted the genetic heterogeneity of HBOC and the efficiency of multigene panel in performing risk assessment and the genetic consistency of BRCA2 susceptibility genes in this cohort.

Prevalence of hereditary breast and ovarian cancer (HBOC) predisposition gene mutations among 882 HBOC high‐risk Chinese individuals

The results highlighted the genetic heterogeneity of HBOC and the efficiency of a multigene panel in carrying out risk assessment as well as the prevalence and clinical prediction factors for HBOC syndrome.

Fertility preservation in women harboring deleterious BRCA mutations: ready for prime time?

Based on the current knowledge, a univocal approach cannot be recommended; in depth patient counseling is warranted and a policy of oocyte cryopreservation in young healthy carriers deserves consideration.



Identifying Lynch Syndrome in Patients With Ovarian Carcinoma: The Significance of Tumor Subtype

The clinical and histomorphologic features of LS-associated/MMR-deficient ovarian epithelial cancers are summarized and reflex testing be performed on the basis of tumor subtype, with a recurring observation is the overrepresentation of endometriosis-associated tumors in the group of ovarian tumors with MMR deficiency.

Inherited Mutations in Women With Ovarian Carcinoma.

To determine the frequency and importance of germline mutations in cancer-associated genes in OC, a study population of 1915 women with OC and available germline DNA was identified and mutations were compared with the National Heart, Lung, and Blood Institute GO Exome Sequencing Project (ESP) and the Exome Aggregation Consortium (ExAC).

Gynecologic Cancer Prevention in Lynch Syndrome/Hereditary Nonpolyposis Colorectal Cancer Families

Risk-reducing hysterectomy and bilateral salpingo-oophorectomy may be considered in women with Lynch/HNPCC to prevent gynecologic cancers and their associated morbidities.

Lynch syndrome in the 21st century: clinical perspectives.

There has been a recent push towards universally testing, especially in case of colorectal cancers, through immunohistochemistry for expression of MMR proteins or through molecular tests for MSI, in order to identify LS mutation carriers and subject them to genetic testing to ascertain the specific gene implicated.

The Histomorphology of Lynch Syndrome–associated Ovarian Carcinomas: Toward a Subtype-specific Screening Strategy

There is a strong association between endometrioid and clear cell ovarian carcinomas and hereditary predisposition due to MMR gene mutation, and MMR-IHC reflex testing was performed on all consecutive non-serous OCs diagnosed at 1 academic hospital over a 2-year period.

Lifetime Cancer Risks in Individuals with Germline PTEN Mutations

Lifetime risks for a variety of cancers, now extending to colorectal cancer, kidney cancer, and melanoma, are increased in patients with PTEN mutations, and a comprehensive approach is proposed to surveillance of patients withPTEN mutations.

Prophylactic surgery to reduce the risk of gynecologic cancers in the Lynch syndrome.

It is suggested that prophylactic hysterectomy with bilateral salpingo-oophorectomy is an effective strategy for preventing endometrial and ovarian cancer in women with the Lynch syndrome.

Surveillance for endometrial cancer in hereditary nonpolyposis colorectal cancer syndrome

EC surveillance in HNPCC seems more effective with endometrial biopsies than with TVUS alone, and the detection of early cancer stages and premalignant lesions offers the opportunity to avoid extensive adjuvant treatment.