Genetic Testing For Ovarian Cancer Research Articles

Hereditary breast and ovarian cancer genetic testing in unselected patients: example of private supplementation of public healthcare service.

In the Emilia-Romagna region (Northern Italy), the identification and management of women at familial/hereditary risk of breast and ovarian cancer is guided by a well-established regional protocol. Here we report the results of the experience of private supplementation of public healthcare service in offering the possibility to undergo BRCA1/2 testing and/or multigene panel testing (MGPT) within a well-defined pathway to women unfulfilling regional criteria. Out of 177 patients referred to our center who underwent BRCA1/2 testing, 175 tested negative while two (1.1%) resulted carriers of pathogenic variants in BRCA2; 69 patients also underwent MGPT, and in four cases (5.8%) a pathogenic variant were found (two in ATM and one in CHEK2 and RAD51C, respectively). Overall, this private supplementation of territorial public healthcare system has made it possible to confirm the validity of regional criteria for genetic testing access (concordance: 98.9%), but also to identify carriers of pathogenic variants of BRCA1/2 that would have escaped regional protocol, to support the effectiveness of MGPT for the identification of rare cases (not BRCA) at mild/high risk, and to provide reassurance to women who were found to be non-carriers of pathogenic variants, who may benefit from a more accurate assessment of their risk.

Germline and somatic testing for ovarian Cancer: An SGO clinical practice statement

Germline and somatic genetic testing have become critical components of care for people with ovarian cancer. The identification of germline and somatic pathogenic variants as well as homologous recombination deficiency can contribute to the prediction of treatment response, prognostic outcome, and suitability for targeted agents (e.g. poly (ADP-ribose) polymerase (PARP) inhibitors). Furthermore, identifying germline pathogenic variants can prompt cascade genetic testing for at-risk relatives. Despite the clinical benefits and consensus recommendations from several organizations calling for universal genetic testing in ovarian cancer, only about one third of patients complete germline or somatic genetic testing. The members of the Society of Gynecologic Oncology (SGO) Clinical Practice Committee have composed this statement to provide an overview of germline and somatic genetic testing for patients with epithelial ovarian cancer, focusing on available testing modalities and options for care delivery.

Abstract A067: Perceptions and experiences of Black women on hereditary breast and ovarian cancer genetic testing

Abstract Black women experience significant disparities in morbidity and mortality related to hereditary breast and ovarian cancer (HBOC). Early identification of women with HBOC is essential for proactive screening and timely diagnosis but evidence suggests that Black women receive genetic testing for HBOC at lower rates than their White counterparts. To understand Black women’s perspectives on HBOC genetic testing and potential factors influencing this decision, we conducted in-depth qualitative interviews with 107 Black women with a personal or family history of breast or ovarian cancer. Participants were recruited via the networks of patient support organizations and sororities as well as at a family medicine safety net clinic in Jacksonville, FL. Participants frequently expressed a lack of awareness about their family cancer history; many cancer patients stated that they only became aware of extensive family history upon their own diagnosis. Lack of family history sharing was attributed to a culture of silence around medical issues and a desire to protect family members from difficult information. However, most participants indicated a strong desire to understand their own risk of HBOC and were interested in genetic testing. Participants with a personal diagnosis were motivated to undergo HBOC genetic testing to reduce the risk for future generations. Clinical experiences with the offer of HBOC genetic testing were variable, with a few expressing that they had to make repeated inquiries from a provider to understand the relevance of the test to their own health. These findings suggest that investigation into alternative clinical modalities to collect family health history may be beneficial to identify Black women who meet NCCN Guidelines for HBOC testing. In contrast to the literature suggesting hesitancy for HBOC genetic testing, many participants perceived genetic results as having a positive impact for their medical decision-making and family's health. The development of patient materials and provider education on cultural and social factors that influence the uptake of HBOC genetic testing is also needed. Citation Format: Kirsten A. Riggan, Michele Halyard, Sarah E. James, Marion Kelly, Daphne Phillips, Megan A. Allyse. Perceptions and experiences of Black women on hereditary breast and ovarian cancer genetic testing [abstract]. In: Proceedings of the 16th AACR Conference on the Science of Cancer Health Disparities in Racial/Ethnic Minorities and the Medically Underserved; 2023 Sep 29-Oct 2;Orlando, FL. Philadelphia (PA): AACR; Cancer Epidemiol Biomarkers Prev 2023;32(12 Suppl):Abstract nr A067.

Protocol to evaluate sequential electronic health record-based strategies to increase genetic testing for breast and ovarian cancer risk across diverse patient populations in gynecology practices

BackgroundGermline genetic testing is recommended by the National Comprehensive Cancer Network (NCCN) for individuals including, but not limited to, those with a personal history of ovarian cancer, young-onset (< 50 years) breast cancer, and a family history of ovarian cancer or male breast cancer. Genetic testing is underused overall, and rates are consistently lower among Black and Hispanic populations. Behavioral economics-informed implementation strategies, or nudges, directed towards patients and clinicians may increase the use of this evidence-based clinical practice.MethodsPatients meeting eligibility for germline genetic testing for breast and ovarian cancer will be identified using electronic phenotyping algorithms. A pragmatic cohort study will test three sequential strategies to promote genetic testing, two directed at patients and one directed at clinicians, deployed in the electronic health record (EHR) for patients in OB-GYN clinics across a diverse academic medical center. We will use rapid cycle approaches informed by relevant clinician and patient experiences, health equity, and behavioral economics to optimize and de-risk our strategies and methods before trial initiation. Step 1 will send patients messages through the health system patient portal. For non-responders, step 2 will reach out to patients via text message. For non-responders, Step 3 will contact patients’ clinicians using a novel “pend and send” tool in the EHR. The primary implementation outcome is engagement with germline genetic testing for breast and ovarian cancer predisposition, defined as a scheduled genetic counseling appointment. Patient data collected through the EHR (e.g., race/ethnicity, geocoded address) will be examined as moderators of the impact of the strategies.DiscussionThis study will be one of the first to sequentially examine the effects of patient- and clinician-directed strategies informed by behavioral economics on engagement with breast and ovarian cancer genetic testing. The pragmatic and sequential design will facilitate a large and diverse patient sample, allow for the assessment of incremental gains from different implementation strategies, and permit the assessment of moderators of strategy effectiveness. The findings may help determine the impact of low-cost, highly transportable implementation strategies that can be integrated into healthcare systems to improve the use of genomic medicine.Trial registrationClinicalTrials.gov. NCT05721326. Registered February 10, 2023. https://www.clinicaltrials.gov/study/NCT05721326

Closing the testing gap: Trends in germline and somatic genetic testing in ovarian cancer (2165)

Closing the testing gap: Trends in germline and somatic genetic testing in ovarian cancer (2165)

The most efficient and effective BRCA1/2 testing strategy in epithelial ovarian cancer: Tumor-First or Germline-First?

ObjectiveGenetic testing in epithelial ovarian cancer (OC) is essential to identify a hereditary cause like a germline BRCA1/2 pathogenic variant (PV). An efficient strategy for genetic testing in OC is highly desired. We evaluated costs and effects of two strategies; (i) Tumor-First strategy, using a tumor DNA test as prescreen to germline testing, and (ii) Germline-First strategy, referring all patients to the clinical geneticist for germline testing. MethodsTumor-First and Germline-First were compared in two scenarios; using real-world uptake of testing and setting implementation to 100%. Decision analytic models were built to analyze genetic testing costs (including counseling) per OC patient and per family as well as BRCA1/2 detection probabilities. With a Markov model, the life years gained among female relatives with a germline BRCA1/2 PV was investigated. ResultsFocusing on real-world uptake, with the Tumor-First strategy more OC patients and relatives with a germline BRCA1/2 PV are detected (70% versus 49%), at lower genetic testing costs (€1898 versus €2502 per patient, and €2511 versus €2930 per family). Thereby, female relatives with a germline BRCA1/2 PV can live on average 0.54 life years longer with Tumor-First compared to Germline-First. Focusing on 100% uptake, the genetic testing costs per OC patient are substantially lower in the Tumor-First strategy (€2257 versus €4986). ConclusionsThe Tumor-First strategy in OC patients is more effective in identifying germline BRCA1/2 PV at lower genetic testing costs per patient and per family. Optimal implementation of Tumor-First can further improve detection of heredity in OC patients.

Molecular genetic testing in ovarian cancer

Ovarian cancer (OC) remains to be a leading cause of mortality among oncogynaecological patients. The low five-year survival rate of OC patients is associated with a lack of highly sensitive screening, early diagnostics and preventive methods, as well as high metastasis, recurrence and chemoresistance rates. Molecular genetic techniques for OC diagnosis based on standardized genetic panels can be used to detect a limited range of mutations in the BRCA1 and BRCA2 genes. However, the spectrum of genes potentially responsible for OC development is much wider. Recent data emphasize the importance of personalized approaches to account for ethno-population specifics in molecular genetic testing. This paper reviews recent data on the pathogenesis, molecular genetic diagnostic methods, and preventive strategies for OC.

Development of an interactive precision medicine dashboard to aid in completion of germline and homologous recombination deficiency (HRD) tumor testing for newly diagnosed ovarian cancer patients to improve the use of PARP inhibitor frontline maintenance (583)

Development of an interactive precision medicine dashboard to aid in completion of germline and homologous recombination deficiency (HRD) tumor testing for newly diagnosed ovarian cancer patients to improve the use of PARP inhibitor frontline maintenance (583)

Genetic Testing for All: Overcoming Disparities in Ovarian Cancer Genetic Testing.

Nearly 3% of the population carries genetic variants that lead to conditions that include hereditary breast and ovarian cancer and Lynch syndrome. These pathogenic variants account for approximately 20% of ovarian cancer cases, and those with germline pathogenic variants have an odds ratio between 4 and 40 for developing ovarian cancer compared with noncarriers. Given the high prevalence of genetic variants, multiple organizations, including ASCO, recommend universal genetic counseling and testing for women diagnosed with epithelial ovarian cancer. Unfortunately, most individuals with a hereditary ovarian cancer syndrome are unaware of their underlying mutation, and racial and ethnic minority individuals as well as patients of low socioeconomic status experience disproportionate rates of underrecognition, leading to late and missed diagnoses. In this article, we review the current understanding of disparities in genetic testing for people with ovarian cancer, the role of population-based genetic testing, and innovative strategies to overcome the critical inequities present in current cancer genetic medicine. Underuse and disparities related to accessing recommended genetic services are complex and multifactorial, requiring improvements in processes related to provider identification, genetic counseling and testing referral, and patient uptake/adherence. Through the expansion of remote genetic counseling, offering online strategies for genetic testing, and reaching at-risk relatives through direct relative contact cascade testing and population-based genetic testing, there are a growing number of innovations in the field of genetic medicine, many of which emphasize health equity and offer promising alternatives to the current paradigm of genetic testing.

New approaches in ovarian cancer based on genetics and carcinogenesis hypotheses (Review).

Ovarian cancer is the leading cause of death among gynecological malignancies and its incidence is rising in the last decades especially in developed countries. High-grade serous ovarian cancer (HGSOC) represents 70% of ovarian cancers. Oral contraceptive use and salpingo-oophorectomy or salpingectomy are well known protective factors against development of ovarian cancer. Identification of specific mutations associated with a high risk of developing ovarian cancer, especially BRCA1/2 mutation and TP53 mutations, has paved the way for implementation of new strategies for early diagnosis and therapy. Hereditary forms of ovarian cancer account for 5-10% and have BRCA1/2 gene mutations or TP53 mutations. BRCA1/2 gene mutations appear in 22% of HGSOC and are associated with the defective homologous repair (HR)/DNA repair pathway. Genetic testing in ovarian cancer is important for risk assessment and therapeutic options. Although 'universal genetic testing' is not recommended yet, the procedure remains highly recommended in women with high risk. Genes involved in the development of ovarian cancer as TP53 may be targeted by gene therapy. Poly (ADP-ribose) polymerase (PARP) inhibitors may enhance the cytotoxic effect of DNA-damaging chemotherapy, and induce synthetic lethality in cases with BRCA1/2 mutations. Other strategies are designed to target pathways driven by various gene mutations, including the use of tyrosine kinase inhibitors in low-grade serous ovarian cancer (LGSOC), or the use of drugs, which target growth factors, or epigenetic events including methylation, and acetylation of genes. The tubal involvement in ovarian carcinogenesis provides an important tool for the clinician to implement risk-reducing strategies including salpingo-oophorectomy or salpingectomy in high-risk cases at appropriate ages.

BRCA mutations: Implications of genetic testing in ovarian cancer.

Ovarian cancer (OC) is one of the most lethal gynecological cancers with a 5-year survival rate that ranges from 30% to 40%. Breast cancer genes (BRCA1 and BRCA2) play a key role in maintaining genomic stability. Mutations in BRCA1/2 genes lead to the accumulation of double-strand breaks, resulting in tumorigenesis. The risk of developing OC in women with BRCA1 and BRCA2 mutations is 39% and 11%, respectively, by 70 years of age. BRCA1/2 mutation testing is thus important to identify women at greatest risk of developing OC in addition to its impact on diagnosis, prognosis, and targeted therapy. Genetic testing is required to identify the BRCA mutations and thus select patients who can benefit from polyadenosine diphosphate (ADP)-ribose polymerase (PARP) inhibitor therapy. Tumor BRCA mutation testing can detect both germline and somatic mutations allowing implementation of preventive strategies on a broader population. Various international guidelines recommend BRCA1/2 mutation genetic testing in all OC patients irrespective of age and family history. This review focuses on the role of BRCA mutation testing in OC.

Germline mutations in Black women with ovarian, fallopian tube and primary peritoneal carcinomas

Routine genetic testing for ovarian cancer and identification of germline mutations can help improve early detection of cancer as well as guide treatment. Knowledge of genetic counseling and referral rates for genetic testing has been lower for Black women, compared to Caucasian women. We aimed to describe the demographics and presence of germline mutations in Black women with ovarian, fallopian tube or peritoneal carcinoma at two large academic institutions.

Germline mutations in Black patients with ovarian, fallopian tube and primary peritoneal carcinomas

ObjectiveRoutine genetic testing for ovarian cancer and identification of germline mutations can help improve early detection of cancer as well as guide treatment. Knowledge of genetic counseling and referral rates for genetic testing has been lower for Black patients, compared to White patients. We aimed to describe the demographics and presence of germline mutations in Black individuals with ovarian, fallopian tube or peritoneal carcinoma at two large academic institutions. MethodsFifty-one Black patients with invasive epithelial ovarian, fallopian tube, or primary peritoneal carcinoma were identified via institutional tissue banks over a 20-year time-period. Germline DNA was sequenced using BROCA, a targeted capture and parallel sequencing assay that identified pathogenic germline mutations in ovarian carcinoma susceptibility genes. ResultsGermline mutations in ovarian cancer susceptibility genes were found in 25.5% of women, most commonly BRCA1 and BRCA2. This mutation frequency mirrors those previously described among predominantly White populations. Our data suggests there may be an advantage in survival among those with germline mutations, although this was not statistically significant. ConclusionsGiven similar frequencies of germline mutations between Black and White patients with ovarian cancer, we conclude that there are not major differences in the genetic predisposition to ovarian carcinoma. Equitable access to genomic advancements including germline and tumor sequencing would facilitate equal access to PARP inhibitors, the standard of care for patients with BRCA mutated advanced ovarian cancer.

A systematic review and meta-analysis of genetic assessment for women with ovarian cancer: how can we do better?

<h3>Objectives:</h3> Despite clear consensus guidelines recommending universal germline genetic testing in ovarian cancer patients and a growing appreciation of the significant health implications for patients and their relatives, fewer than 50% of women with ovarian cancer undergo genetic testing. We aim to use systematic review and meta-analysis to assess the status of genetic testing in ovarian cancer and identify strategies that can improve uptake of genetic assessment in this high-risk population. <h3>Methods:</h3> A complete systematic search of online databases (PubMed, EMBASE, MEDLINE, and the Cochrane Library) for studies reporting on genetic testing in ovarian cancer without date restriction was performed. Random effects pooled proportions were calculated using the logit transformation and 95% confidence intervals for individual study proportions were calculated using the Clopper-Pearson exact method. <h3>Results:</h3> The comprehensive search produced 3026 studies, among which 38 met inclusion criteria. Among studies listing mean age of diagnosis, stage, and histology data, the median of the mean age of diagnoses across the studies was 60.5 years. The median proportion of patients with early stage (I/II) ovarian cancer was 22.8%, late stage (III/IV) 70%, and unknown stage 3.6%. The median proportion of patients with serous histology was 74.6%, endometrioid 8.6%, mucinous 6%, clear cell 7%, mixed 3.6%, carcinosarcoma 3.4%, adenocarcinoma 5.8%, and other/unknown histology 7.9%. Twenty-one papers described rates of referral to genetic counseling and found, among 9,629 women, a referral rate of 56% [CI 32-78%]. Twenty-three papers described genetic testing uptake without a specified intervention and found, among 16,412 women, 34% [CI 23-47%] underwent genetic testing (Figure 1). For patients completing genetic testing, 27% [CI 22-32%] had a pathogenic mutation and 7% [CI 3-16%] a variant of uncertain significance. The most successful strategy aimed at improving rates of genetic testing was ‘mainstreaming,' the process of providing counseling and testing in the oncology clinic by trained non-genetics specialists. With mainstreaming, 99% [CI 86-100%] of patients completed genetic testing. Other strategies described in the literature included the use of telemedicine for genetic services (75% underwent genetic testing [CI 43-93%]), embedding a genetic counselor in the clinic (67% [CI 32-90%]), reflex somatic tumor <i>BRCA1/2</i> testing to triage to germline testing (64% [17-94%]), practice recommendation for universal testing of all ovarian cancer patients (42% [CI 15-74%]), and incorporating dedicated referral forms into practice (26% [CI 10-53%]). <h3>Conclusions:</h3> Identifying causative germline mutations in ovarian cancer can impact treatment decisions, inform risk of other malignancies and guide disease prevention and early detection in at-risk relatives. Rates of both referral to genetic counseling and testing remain low, 56% and 34% respectively, despite broad recommendations for universal testing. Mainstreaming, use of telemedicine, embedding genetic counselors in the clinic, and triage via reflex somatic <i>BRCA1/2</i> assessment are all strategies demonstrating success in this patient population and should be considered for those providing care to women with ovarian cancer.

Patient experience and understanding of genetic testing in ovarian cancer

<h3>Objectives:</h3> New advances in ovarian cancer (OC) treatment have solidified the importance of genetic testing in the management of ovarian cancer. As part of a larger quality improvement project aimed to increase somatic tumor testing in the upfront setting, we aimed to understand the OC patient experience with genetic testing through qualitative research methodology. <h3>Methods:</h3> We identified 23 patients who underwent surgery and adjuvant chemotherapy for advanced OC from January 2019 - January 2020 at a large volume single institution. Patients participated in a semi-structured phone interview exploring their experience with both germline and somatic testing for ovarian cancer and their understanding of the difference in testing, why it is performed, and the relevance to their care. The interviews were audio-recorded and transcribed verbatim and were analyzed by an independent reviewer with expertise in qualitative research using a two-stage process. First, a <i>deductive content analysis</i> provided a comprehensive overview of participant responses to the interview questions. Several new questions emerging from the content analysis then guided a second stage of <i>thematic analysis</i> to provide a more fine-grained understanding of key factors influencing patients' experience with and knowledge of genetic testing. <h3>Results:</h3> All 23 patients underwent genetic counseling, germline testing and somatic testing, 22/23 recalled provider education regarding genetic testing and 20/23 recalled seeing a genetics provider. Most patients (22/23) voiced understanding that test results would have implications for family members and their treatment, though two-thirds of patients (15/23) did not have a good understanding of available genetic tests for ovarian cancer and only 4 patients reported being aware of germline or somatic testing. Of the 23 patients, only 2 patients stated they received germline and/or somatic testing, 6 said testing had not been performed and 15 did not know if either had been performed. During the thematic analysis, several themes surrounding patient experience with and knowledge of genetic testing emerged from the interviews; patient passivity during medical consultation, patient desire to understand more regarding their diagnosis and low sense of entitlement (Table). <h3>Conclusions:</h3> We observed that patients appear to have a weak understanding of genetic testing for ovarian cancer. These data offer questions to understand patient wishes regarding genetics education and opportunities for patient care improvement. This data ultimately culminates in the question of why do patients not know much about genetic testing for ovarian cancer and subsequently does this lack of understanding pose a problem for the quality of patient care.

Disparities in genetic testing for women with ovarian cancer: a systematic review

<h3>Objectives:</h3> Despite the recommendation for genetic assessment for all women with ovarian cancer, the limited available data suggest significant disparities in referral and uptake of genetic services in minority populations. Additionally, the COVID-19 pandemic has exacerbated many existing health care disparities, making it even more critical that inequalities be identified and addressed. We sought to evaluate differences in genetic counseling and genetic testing among women with ovarian cancer based on race and insurance status. <h3>Methods:</h3> A complete systematic search of online databases (PubMed, EMBASE, MEDLINE, and the Cochrane Library) for studies reporting on genetic testing in ovarian cancer without date restriction was performed. Random effects pooled proportions were calculated using the logit transformation and 95% confidence intervals for individual study proportions were calculated using the Clopper-Pearson exact method. <h3>Results:</h3> The comprehensive search produced 3026 studies, among which 38 met inclusion criteria. Eight studies included analysis by self-reported race/ethnicity and 6 included analysis by insurance status. Among studies listing mean age of diagnosis, stage, and histology data, the median of the mean age of diagnoses across the studies was 63.3 years. The median proportion of patients with early stage (I/II) ovarian cancer was 14.7%, late stage (III/IV) 68.6%, and unknown stage 9.3%. The median proportion of patients with serous histology was 81.8%, endometrioid 12.6%, mucinous 5%, clear cell 5.8%, mixed 3.7%, carcinosarcoma 3%, and other/unknown histology 81.8%. Among 7,862 patients, 6,469 reported being White, 599 Black, and 794 Asian. Random-effects pooled proportions by race/ethnicity to follow: Among White patients, 43% [CI 26-62%] were referred for genetic counseling and 40% [CI 25-57%] completed testing, and for Black patients, 24% [CI 13-42%] were referred for counseling and 26% [CI 17-38%] completed testing. For Asian patients, 23% [CI 2-83%] were referred for counseling and 14% [CI 2-51%] completed testing, although only two studies included referral and testing proportions in Asian patients, with the majority of patient data coming from one study with referral proportion of 39% and another study with testing proportion of 31%. Among 7,681 patients, 5,320 (69%) had private insurance, 2,078 (27%) had Medicare/Medicaid, and 283 (4%) were uninsured. Random-effects pooled proportions by insurance status to follow: Among patients with private insurance, 39% [CI 26-54%] were referred for genetic counseling and 47% [CI 30-64%] completed testing. Among patients with Medicare/Medicaid, 27% [CI 18-38%] were referred for counseling and 26% [CI 16-40%] completed testing, and among uninsured patients, 24% [CI 13-41%] were referred for counseling and 23% [CI 18-28%] completed testing. Small sample and high study heterogeneity observed in the race and insurance data resulted in large confidence intervals in the pooled proportions of interest. <h3>Conclusions:</h3> Rates of genetic counseling and genetic testing are below national guidelines for all women with ovarian cancer. Our systematic review of the existing literature on this topic suggests that minority women and patients without private insurance may be disproportionally affected by lower referral rates and more limited access to genetic testing. This disparity is concerning as it can have significant impact on the health of the affected patient and her at-risk relatives.

EP078 - Divergent payor medical policy leads to gross disparities in access to hereditary breast and ovarian cancer genetic testing

eP078 - Divergent payor medical policy leads to gross disparities in access to hereditary breast and ovarian cancer genetic testing

EP076 - Evaluating the impact of an artificial intelligence tool: Improving high-risk patient identification for hereditary breast and ovarian cancer genetic testing

eP076 - Evaluating the impact of an artificial intelligence tool: Improving high-risk patient identification for hereditary breast and ovarian cancer genetic testing

Current practices on genetic testing in ovarian cancer.

Epithelial ovarian cancer (EOC) is probably the tumor type with the highest percentage of hereditary cases observed, irrespectively of selection criteria. A fourth to a fifth of unselected epithelial EOC patients carry pathogenic variants (PVs) in a number of genes, the majority of which encode for proteins involved in DNA repair pathways. BRCA1 and BRCA2 predisposing PVs were the first to be associated to ovarian cancer, with the advent in DNA sequencing technologies leading to the discovery and association of additional genes which compromise the homologous recombination (HR) pathway. In addition, PVs genes involved in mismatch repair (MMR) pathway, account for 10–15% of hereditary EOC. The identification of women with HR deficient ovarian cancers has significant clinical implications concerning chemotherapy regimen planning and development and use of targeted therapies as well. More specifically, in patients with BRCA1/2 PVs or HR deficiency maintenance treatment with poly(ADP-ribose) polymerase (PARP) inhibitors, either in the first line setting or in recurrent disease, improves the progression-free survival. But also patients with HR proficient tumors show a benefit. Therefore, genetic testing in ovarian cancer has a prognostic and predictive value. In this review, we discuss which ovarian cancer patients should be referred for genetic counseling and how to perform genetic testing. We also discuss the timing of genetic testing and its clinical relevance to BRCA status.

Mainstreamed genetic testing in ovarian cancer: patient experience of the testing process

ObjectivePathogenic BRCA variants account for 5.8–24.8% of ovarian cancers. The identification of such a variant can have a significant impact on the affected individual and their relatives, determining eligibility for...