A multi-center study to evaluate the impact of germline BRCA1 and BRCA2 mutations on ovarian cancer survival

Bolton, KL; Chenevix-Trench, G.; Goh, C.; Sadetzki, Siegal; Ramus, Susan J.; Gayther, SA; Chanock, SJ; Antoniou, Antonios; Pd, Pharoah

doi:10.1186/1897-4287-10-s2-a27

Cited by 2 publications

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“…For many years, the biological impact of these mutations was used in the oncologic diagnostic and therapeutic practice. The effect of BRCA1/2 mutations on higher sensitivity of the cytotoxic chemotherapeutical regimes has been utilized for the adjuvant therapy of HGSC patients [9,10].…”

Section: Discussionmentioning

confidence: 99%

“…These changes may result in genomic instability, carcinogenesis, or cell death [8]. However, an impaired repair system in DDR pathway ensures higher sensitivity of carcinoma response to platinum-derived chemotherapeutics [9,10]. The action of these drugs results in a more pronounced effect on tumor cells deficient in HR and relatively less damage to non-tumor cells [11].…”

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confidence: 99%

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High-grade serous ovarian carcinoma and detection of inactivated BRCA genes from biopsy material of Slovak patients

Janíková¹,

Váňová²,

Grendár³

et al. 2021

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Ovarian cancer is the leading cause of mortality among all gynecological cancers in developed countries and its most common and most lethal type is the high-grade serous ovarian carcinoma (HGSC). At the molecular level, nearly half of all HGSCs exhibit ineffective homologous DNA recombination and disruption of DNA damage/repair pathway inactivation caused often by BRCA1 and BRCA2 gene mutation. Recently, the detection of BRCA1/2 mutations became important for personalized treatment of HGSC patients with the PARP-inhibitors in the defined clinical setting of relapse after positive adjuvant platinum-based chemotherapeutic response. Based on the selection of patients by regional oncologists, we attempted to verify the possibilities of BRCA1/2 mutation testing on archival formalin-fixed paraffin-embedded (FFPE) biopsy material from regional hospitals. In the study we used: a/ FFPE tumor resections of 97 patients sent to our laboratory, originally stored in archives of regional departments for a period of 1 -3 years and retrieved on the principle to contain a maximum of non-necrotic tumor tissue, b/ next-generation sequencing (NGS) assay covering all known mutations in the BRCA1/2 genes on MiSeq (Illumina® platform), and c/ Sophia DDM® bioinformatics platform. After processing of FFPE samples, 5 cases were excluded due to the insufficient genomic DNA quantity. Bioinformatics results of NGS analyses of 92 patients' samples indicated 17.39 % pathogenic mutations and 32.61 % potentially pathogenic mutations in genes BRCA1/2. Overall, 50 % pathogenic and potentially pathogenic mutations were detected in the patient's cohort. The relatively high incidence of BRCA1/2 mutations in our series may be influenced by various indicators including the selection of patients based on adjuvant therapy response as well as regional or population heterogeneity in their frequency. Based on the interdisciplinary cooperation, the use of archival biopsy material processed primarily and stored for longer period in different laboratories without uniformly defined pre-analytical conditions allows identifying the HGSC patients who might better respond to the PARP-inhibition therapy.

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Section: Discussionmentioning

confidence: 99%

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confidence: 99%

High-grade serous ovarian carcinoma and detection of inactivated BRCA genes from biopsy material of Slovak patients

Janíková¹,

Váňová²,

Grendár³

et al. 2021

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“…22 Survival rate of BRCA2 -associated ovarian cancers is known to be better (52%) than BRCA1 -associated (44%) and sporadic (36%) cancers. 23…”

Section: Hereditary Breast and Ovarian Cancer Syndromementioning

confidence: 99%

Imaging Recommendations for Diagnosis, Staging, and Management of Hereditary Malignancies

Majithia

Mahajan

Vaish

et al. 2023

Indian J Med Paediatr Oncol

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Hereditary cancer syndromes, characterized by genetically distinct neoplasms developing in specific organs in more than one family members, predispose an individual to early onset of distinct site-specific tumors. Early age of onset, multiorgan involvement, multiple and bilateral tumors, advanced disease at presentation, and aggressive tumor histology are few characteristic features of hereditary cancer syndromes. A multidisciplinary approach to hereditary cancers has led to a paradigm shift in the field of preventive oncology and precision medicine. Imaging plays a pivotal role in the screening, testing, and follow-up of individuals and their first- and second-degree relatives with hereditary cancers. In fact, a radiologist is often the first to apprise the clinician about the possibility of an underlying hereditary cancer syndrome based on pathognomonic imaging findings. This article focuses on the imaging spectrum of few common hereditary cancer syndromes with specific mention of the imaging features of associated common and uncommon tumors in each syndrome. The screening and surveillance recommendations for each condition with specific management approaches, in contrast to sporadic cases, have also been described.

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A multi-center study to evaluate the impact of germline BRCA1 and BRCA2 mutations on ovarian cancer survival

Abstract: Approximately 10 percent of women with invasive epithelial ovarian cancer (EOC) carry deleterious germline mutations in BRCA1 or BRCA2. However, the impact of these mutations on ovarian cancer prognosis remains unclear.

Cited by 2 publications

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High-grade serous ovarian carcinoma and detection of inactivated BRCA genes from biopsy material of Slovak patients

High-grade serous ovarian carcinoma and detection of inactivated BRCA genes from biopsy material of Slovak patients

Imaging Recommendations for Diagnosis, Staging, and Management of Hereditary Malignancies

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