BRCA1 germline mutations in women with uterine serous papillary carcinoma☆
Section snippets
Materials and methods
We reviewed all cases that fulfilled the International Federation of Gynecology and Obstetrics pathologic criteria for uterine serous papillary carcinoma, treated at either the Shaare Zedek Medical Center or Kaplan Medical Center between September 1994 and February 1999. Written informed consent was obtained for collection of epidemiologic information and blood samples. Participants received genetic counseling at their respective institutions. Information on ethnic backgrounds and medical and
Results
Twelve cases that met pathologic criteria for uterine serous papillary carcinoma were identified. The average age of the study population was 67.8 years (range 56–77 years). Women were diagnosed at advanced stages (IIB–IV), with grades 2 to 3 tumors. Nine of 12 women were of Ashkenazi origin and the three others were of Iraqi origin. Five of 12 had histories of breast cancer, diagnosed 1–14 years earlier. Eight of 12 had family histories of cancer (family history was defined as either personal
Discussion
Uterine serous papillary carcinoma is a histologic subtype of endometrial adenocarcinoma that shares morphologic and biochemical features with ovarian papillary serous carcinoma. Both neoplasms have aggressive biologic behavior and are diagnosed typically at advanced stages. In Israel, 30% of ovarian cancers in Ashkenazi Jews are associated with one of the three common BRCA1 and BRCA2 mutations.19, 20 BRCA1 germline mutations were recently associated with primary peritoneal serous papillary
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Cited by (55)
Concomitant diagnosis of endometrial and breast cancer - does the sequence matters?
2021, Gynecologic Oncology ReportsCitation Excerpt :Our study illustrated a higher percentage of patients with a BRCA mutation in the BC first group than in the EC first group, although this difference was not statistically significant. The majority of these patients (73%) had a serous histology, in further support of increasing evidence that uterine serous carcinoma (USC) could be a manifestation of the hereditary breast/ovarian cancer syndrome (Lavie, 2000). This higher percentage of BRCA mutations might partially explain the larger number of USC cases in the BC first group.
BRCA1 and BRCA2 pathogenic variant carriers and endometrial cancer risk: A cohort study
2020, European Journal of CancerPrior breast cancer and tamoxifen exposure does not influence outcomes in women with uterine papillary serous carcinoma
2017, Gynecologic OncologyCitation Excerpt :Thus, our UPSCBR + comparison groups may contain a mix of BRCA + and BRCA − patients, which limits full interpretation of our survival data. Considering the current study findings and results from previous BRCA studies [10,22–24], we would recommend genetic counseling, full family history, and consideration of genetic testing in UPSCBR + women. Additionally, hysterectomy could be considered as part of risk-reducing surgery for BRCA1 affected patients.
Linking uterine serous carcinoma to BRCA1/2-associated cancer syndrome: A meta-analysis and case report
2017, European Journal of CancerCitation Excerpt :Molecular and functional analysis of tumour DNA demonstrated complete LOH of the BRCA1 wild-type allele, causing a functional defect in HR, supporting a causal relationship. Of the included studies that additionally analysed LOH, the majority of cases (7/9, 77.8%) demonstrated LOH [15,16,38] of the BRCA1 wild-type allele, further stressing a potential causal relationship between germline BRCA1/2-PMs and USC. Aforementioned relationship has potentially important clinical implications.
Uterine papillary serous cancer: A review of the literature
2012, Gynecologic OncologyManagement of women with uterine papillary serous cancer: A Society of Gynecologic Oncology (SGO) review
2009, Gynecologic Oncology
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Supported in part by a grant from the Israel Cancer Research Fund and by a gift from the Basker family, in loving memory of Eileen Basker.