Incidence of germline BRCA1 and BRCA2 mutations among Filipinos.

Que, F.V.F.; Ang, Daphne; Andal, Jose Jasper; Madrid, Manuelito; Lo, Raymundo; Imasa, Marcelo Severino B.; Enriquez, Ma. Luisa D.; Tria, Francisco; Cabral, Loraine Kay; Dimalibot, Rosil; Li, Rubi Khaw

doi:10.1200/jco.2018.36.15_suppl.e13628

Cited by 2 publications

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“…Biologic mechanisms for the observed differences in ovarian cancer outcomes could explain our findings. Variations in the BRCA gene, which are linked to breast and ovarian cancer, exist among different racial groups (26) and Asian ethnicities (15,27,28). Currently, BRCA testing is recommended by the American College of Obstetrics and Gynecology (29) and the National Comprehensive Cancer Network (30) for women with a personal history of EOC.…”

Section: Discussionmentioning

confidence: 99%

Risks of Second Primary Gynecologic Cancers following Ovarian Cancer Treatment in Asian Ethnic Subgroups in the United States, 2000–2016

Mukand¹,

Zolekar²,

Ko³

et al. 2020

Cancer Epidemiology, Biomarkers &Amp; Prevention

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Background: The differential occurrence of second primary cancers by race following ovarian cancer is poorly understood. Our objective was to determine the incidence of second primary gynecologic cancers (SPGC) following definitive therapy for ovarian cancer. Specifically, we aimed to determine differences in SPGC incidence by Asian ethnic subgroups.Methods: We identified 27,602 women ages 20 years and older and diagnosed with first primary epithelial ovarian cancer between 2000 and 2016 who received surgery and chemotherapy in 18 populationbased Surveillance, Epidemiology and End Results Program registries. We compared the incidence of SPGC with expected incidence rates in the general population of women using estimated standardized incidence ratios (SIR) and 95% confidence intervals (CI).Results: The incidence of SPGC was lower among White women (SIR ¼ 0.73; 95% CI, 0.59-0.89), and higher among Black (SIR ¼ 1.80; 95% CI, 0.96-3.08) and Asian/Pacific Islander (API) women (SIR ¼ 1.83; 95% CI, 1.07-2.93). Increased risk of vaginal cancers was observed among all women, although risk estimates were highest among API women (SIR ¼ 26.76; 95% CI, 5.52-78.2) and were also significant for risk of uterine cancers (SIR ¼ 2.53; 95% CI, 1.35-4.33). Among API women, only Filipinas had significantly increased incidence of SPGC overall including both uterine and vaginal cancers.Conclusions: Risk of SPGC following treatment of ovarian cancer differs by race and ethnicity, with Filipina women having the highest rates of second gynecologic cancers among Asian women.Impact: Ensuring access and adherence to surveillance may mitigate ethnic differences in the early detection and incidence of second gynecologic cancers.

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Section: Discussionmentioning

confidence: 99%

Risks of Second Primary Gynecologic Cancers following Ovarian Cancer Treatment in Asian Ethnic Subgroups in the United States, 2000–2016

Mukand¹,

Zolekar²,

Ko³

et al. 2020

Cancer Epidemiology, Biomarkers &Amp; Prevention

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“…Due to heterogeneity in chemotherapeutic response, there is a need to custom-fit treatment with the genetic profile of patients as part of precision medicine. In the Philippines, however, only a few genetic studies have been done on ovarian cancer, focusing on BRCA 1/2 mutations associated with hereditary breast-ovarian cancer (De Leon Matsuda et al, 2002;Nato, 2003;Que et al, 2018). This pioneering study described genetic variations in chemosensitive and chemoresistant ovarian specimens from Filipino patients that may be associated with pathogenesis or chemotherapeutic response via targeted next-generation sequencing of hotspot regions of common tumor suppressor genes and oncogenes.…”

Section: Genetic Characterization Of Ovarian Tumor Tissues Frommentioning

confidence: 99%

Genetic Characterization of Ovarian Tumor Tissues from Patients with Epithelial Ovarian Cancer in a Philippine Tertiary Hospital: A Descriptive Study

Lintao

Padua

Nakura

et al. 2023

Asian Pac J Cancer Prev

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Objective: This study identified genetic variations in ovarian tumor specimens from Filipino epithelial ovarian cancer (EOC) patients using next-generation sequencing. Methods: Genomic DNA was isolated from formalin-fixed paraffin-embedded ovarian specimens from 8 chemosensitive and 8 chemoresistant EOC patients. Targeted next-generation sequencing was done to identify mutations in hotspot regions of common oncogenes and tumor-suppressor genes. The mutations were cross-referenced with dbSNP and ClinVar databases to identify previously reported alterations, and potentially damaging variants were predicted using PolyPhen-2. Results: Our study has identified 85 unique variants, 35 in chemosensitive EOC, 22 in chemoresistant EOC, and 28 in both. Chemosensitive EOC specimens had more exonic single nucleotide variants than chemoresistant EOC specimens. Of the 50 oncogenes and tumor suppressor genes, KDR gene had the most frequent variations in EOC patients. Two of the unique KDR variants identified were novel mutations. Thirty-nine unique protein-modifying genetic variants were identified in all specimens, the majority of which have been previously reported in dbSNP and ClinVar. Conclusion: This study was the first non-BRCA genetic analysis done on ovarian cancer in Filipino patients. Next-generation sequencing was able to identify previously reported alterations with known therapeutic implications which may benefit from targeted therapy instead of standard chemotherapy regimen.

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Incidence of germline BRCA1 and BRCA2 mutations among Filipinos.

Cited by 2 publications

References 0 publications

Risks of Second Primary Gynecologic Cancers following Ovarian Cancer Treatment in Asian Ethnic Subgroups in the United States, 2000–2016

Risks of Second Primary Gynecologic Cancers following Ovarian Cancer Treatment in Asian Ethnic Subgroups in the United States, 2000–2016

Genetic Characterization of Ovarian Tumor Tissues from Patients with Epithelial Ovarian Cancer in a Philippine Tertiary Hospital: A Descriptive Study

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