Fallopian Tube and Primary Peritoneal Carcinomas Associated With BRCA Mutations

2003 ◽  
Vol 21 (22) ◽  
pp. 4222-4227 ◽  
Author(s):  
Douglas A. Levine ◽  
Peter A. Argenta ◽  
Cindy J. Yee ◽  
David S. Marshall ◽  
Narciso Olvera ◽  
...  
Keyword(s):  
Fallopian Tube ◽  
Survival Data ◽  
Statistical Tests ◽  
Brca Mutation ◽  
Ashkenazi Jewish ◽  
Founder Mutations ◽  
Peritoneal Carcinoma ◽  
Brca Mutations ◽  
Mutation Carriers ◽  
Brca Mutation Carriers

Purpose: The aims of this study were to determine the incidence of BRCA mutations among Ashkenazi Jewish patients with fallopian tube carcinoma (FTC) or primary peritoneal carcinoma (PPC), to study the clinicopathologic features of these cancers, and to estimate the risks of these cancers in association with a BRCA mutation. Patients and Methods: A retrospective review at two institutions identified 29 Jewish patients with FTC and 22 Jewish patients with PPC. These patients were genotyped for the three Ashkenazi Jewish BRCA founder mutations (185delAG and 5382insC in BRCA1 and 6174delT in BRCA2). Surgical and pathologic information, family history, and survival data were obtained from hospital records. All statistical tests were two sided. Results: Germline BRCA mutations were identified in five of 29 patients with FTC (17%) and nine of 22 patients with PPC (41%). Mutation carriers had a younger mean age at diagnosis than patients without a mutation (60 v 70 years; P = .002). The overall median survival was 148 months for mutation carriers and 41 months for patients without a mutation (P = .04). For BRCA mutation carriers, the lifetime risks of FTC and PPC were 0.6% and 1.3%, respectively. Conclusion: Substantial proportions of Ashkenazi Jewish patients with FTC or PPC are BRCA mutation carriers. Patients with BRCA-associated FTC or PPC are younger at diagnosis and have improved survival compared with patients without a BRCA mutation. Although the lifetime risks of FTC or PPC for patients with BRCA heterozygotes are greater than those for the general population, the absolute risks seem relatively low.

Assessment of cancer screening practices after BRCA testing in Michigan.

2013 ◽  
Vol 31 (15_suppl) ◽  
pp. 1557-1557
Author(s):  
Julie Zenger Hain ◽  
Sarah Mange ◽  
Janice Bach ◽  
Debra Duquette ◽  
Jennifer McLosky ◽  
...  
Keyword(s):  
Genetic Counseling ◽  
Brca Mutation ◽  
Ca 125 ◽  
Brca Mutations ◽  
Cancer History ◽  
Screening Guidelines ◽  
Screening Practices ◽  
Mutation Carriers ◽  
Post Test ◽  
Brca Mutation Carriers

1557 Background: Women who harbor BRCA1/2 mutations are at increased risk for breast and ovarian cancer and are advised to undergo high risk surveillance and/or preventative surgery. The compliance with screening guidelines in these women is not well known. This study aims to evaluate the uptake and screening practices of women with known deleterious BRCA mutations and BRCA true negatives who received genetic counseling in the state of Michigan. Methods: A telephone survey coordinated by the Michigan Department of Community Health was conducted on pts seen at 8 genetics clinics between 10/07 to 10/09. Each center was staffed by board certified genetics professionals who provided pre and post-test genetic counseling. Pts who were found to carry a deleterious BRCA mutation, or to be negative for a known familial mutation, were queried regarding adherence to NCCN guidelines. Results: 138 of 253 (55%) pts responded to the phone survey, with an elapsed time of 1.7 to 4.6 years from post-test counseling session. Among BRCA mutation carriers over age 25 years with no cancer history or mastectomy, 11 of 21 pts (52%) adhered to MRI screening guidelines, 3 pts (14%) reported two MRIs, and 7 (33%) pts had no MRI screening in the preceding year. 18 of 21 pts (86%) reported having a screening mammogram in the preceding year and the remaining 3 had two or more. 8 of 20 (40%) pts had two clinical breast exams. Of the women who had breast cancer and no mastectomy, 5 of 9 (56%) pts did not have MRI screening. Of the BRCA true negatives with no cancer history, CA-125 or transvaginal ultrasound was performed in 7 (19%) and 8 (20%) of 37 pts, respectively. Conclusions: This study reveals sub-optional compliance with screening guidelines in women who were identified to be carriers of BRCA mutations or those who were true negatives, despite pre and post-test genetic counseling and communication of established management guidelines. Some recommended screening measures were under-utilized in BRCA mutation carriers, and some were over-utilized in the true negatives. Additional interventions are needed to improve adherence to evidence-based screening guidelines aimed at promoting early detection, with an emphasis on appropriate utilization of limited healthcare resources.

Comparison of risk-reducing surgery in women with BRCA and non-BRCA ovarian cancer susceptibility genes.

2019 ◽  
Vol 37 (15_suppl) ◽  
pp. 1547-1547
Author(s):  
Zachary Phillip Schwartz ◽  
Mae Zakhour ◽  
Andrew John Li ◽  
Christine S. Walsh ◽  
Bj Rimel ◽  
...  
Keyword(s):  
Ovarian Cancer ◽  
Cancer Susceptibility ◽  
Brca Mutation ◽  
Susceptibility Genes ◽  
Brca Mutations ◽  
Cancer Susceptibility Genes ◽  
Mutation Carriers ◽  
Brca Mutation Carriers ◽  
History Of ◽  
Risk Reducing

1547 Background: Risk reducing gynecologic surgery (RRSO) is standard of care for women with BRCA mutations. The optimal management for women with non-BRCA ovarian cancer susceptibility mutations remains unclear. We sought to characterize the practice patterns for these women at our two institutions. Methods: Women with germline ovarian cancer susceptibility genes who had a RRSO were identified from 1/2000-1/2019 in an IRB approved study. All patients were asymptomatic with no suspicion for malignancy at time of RRSO. Clinico-pathologic characteristics were extracted from the medical records. Continuous variables were analyzed with Kruskal-Wallis and categorical variables analyzed with chi square and t-tests. Results: 152 BRCA1, 95 BRCA2, and 63 Non-BRCA mutation carriers were identified—50 Lynch (22 MLH1, 13 MSH2, 13 MSH6, 2 PMS2) and 13 Other (6 BRIP1, 2 RAD51C, 5 RAD51D). There was no difference between age at testing, age at RRSO, and interval between testing and RRSO between groups. Genetic counseling was higher in Non-BRCA patients. Family history of ovarian cancer was more common in women with BRCA1 and Other germline mutations compared to BRCA2 and Lynch. Family and personal history of breast cancer was high in all groups except Lynch carriers. Prophylactic mastectomy was seen mostly in BRCA mutation carriers. Concomitant hysterectomy was performed in the majority of women (BRCA1 59%, BRCA2 57%, and Other 62%), with the highest frequency in Lynch carriers (86%, p<.01). Occult cancer was only seen in BRCA mutation carriers: BRCA1 (7%), BRCA2 (2%), Lynch (0%), Other (0%). Conclusions: In this cohort, women with Non-BRCA mutations are managed similarly to women with BRCA mutations. We observed no occult cancers in Non-BRCA patients. The optimal role of surgery as a risk reducing strategy in this group requires further study. [Table: see text]

No association between BRCA mutations and sex ratio in offspring of Pakistani BRCA mutation carriers

2007 ◽  
Vol 107 (1) ◽  
pp. 155-156 ◽  
Author(s):  
Muhammad U. Rashid ◽  
Diana Torres ◽  
Anbreen Zaidi ◽  
Farah Rasheed ◽  
Faisal Sultan ◽  
...  
Keyword(s):  
Sex Ratio ◽  
Brca Mutation ◽  
Brca Mutations ◽  
Mutation Carriers ◽  
Brca Mutation Carriers

scholarly journals Biological Role and Clinical Implications of microRNAs in BRCA Mutation Carriers

2021 ◽  
Vol 11 ◽  
Author(s):  
Chiara Tommasi ◽  
Benedetta Pellegrino ◽  
Daniela Boggiani ◽  
Angelica Sikokis ◽  
Maria Michiara ◽  
...  
Keyword(s):  
Brca Mutation ◽  
Scientific Evidence ◽  
Clinical Implications ◽  
Brca Mutations ◽  
Small Noncoding Rnas ◽  
Mutation Carriers ◽  
Increased Risk ◽  
Modifiable Factors ◽  
Brca Mutation Carriers

Women with pathogenic germline mutations in BRCA1 and BRCA2 genes have an increased risk to develop breast and ovarian cancer. There is, however, a high interpersonal variability in the modality and timing of tumor onset in those subjects, thus suggesting a potential role of other individual’s genetic, epigenetic, and environmental risk factors in modulating the penetrance of BRCA mutations. MicroRNAs (miRNAs) are small noncoding RNAs that can modulate the expression of several genes involved in cancer initiation and progression. MiRNAs are dysregulated at all stages of breast cancer and although they are accessible and evaluable, a standardized method for miRNA assessment is needed to ensure comparable data analysis and accuracy of results. The aim of this review was to highlight the role of miRNAs as potential biological markers for BRCA mutation carriers. In particular, biological and clinical implications of a link between lifestyle and nutritional modifiable factors, miRNA expression and germline BRCA1 and BRCA2 mutations are discussed with the knowledge of the best available scientific evidence.

Prolonged survival among women with BRCA germline mutations and advanced endometrial cancer: a case series

2008 ◽  
Vol 18 (3) ◽  
pp. 546-549 ◽  
Author(s):  
J. S. KWON ◽  
J. LENEHAN ◽  
M. CAREY ◽  
P. AINSWORTH
Keyword(s):  
Endometrial Cancer ◽  
Brca Mutation ◽  
Sarcomatoid Carcinoma ◽  
Case Series ◽  
Serous Carcinoma ◽  
Population Database ◽  
Brca Mutations ◽  
Mutation Carriers ◽  
Brca Mutation Carriers ◽  
Papillary Serous Carcinoma

It is unclear if BRCA mutation carriers diagnosed with advanced endometrial cancer have a better prognosis compared to sporadic cases. From a population database of BRCA1 and 2 mutation carriers in Southwestern Ontario, Canada, we identified three women with advanced-stage endometrial cancer. They were 57, 59, and 64 years of age, and of English/Scottish, Ashkenazi Jewish, and English heritage, respectively. They had different mutations in BRCA1 (Q1240X:C3837T; 68_69delAG; 1961delA). One had a sarcomatoid carcinoma and two had uterine papillary serous carcinoma. All had stage IVB disease, with surgery followed by adjuvant chemotherapy and/or radiotherapy. Follow-up has ranged from 3.3 to 14.6 years. They are still alive and well with no evidence of recurrent disease. This observation raises the question as to whether BRCA mutations may be associated with a better prognosis in patients with advanced endometrial cancer

Fertility in BRCA mutation carriers: counseling BRCA-mutated patients on reproductive issues

2020 ◽  
Vol 0 (0) ◽  
Author(s):  
Laura Knabben ◽  
Franziska Siegenthaler ◽  
Sara Imboden ◽  
Michael D. Mueller
Keyword(s):  
Brca Mutation ◽  
Psychological Impact ◽  
Reproductive Potential ◽  
Epidemiological Studies ◽  
Current Evidence ◽  
Brca Mutations ◽  
Mutation Carriers ◽  
Reproductive Decision Making ◽  
Brca Mutation Carriers ◽  
Fertility Counseling

AbstractObjectivesGenetic testing rates for hereditary breast and ovarian cancer (HBOC) have steadily increased during the past decades resulting in a growing population of young and healthy mutation carriers. Available data on fertility issues in BRCA mutation carriers is rising but the results remain to some extent still conflicting.We have performed a systematic literature review in order to get an overview concerning the current evidence on fertility issues in BRCA mutation carriers. Data were analyzed critically with the aim to deliver physicians a solid basis for (onco) fertility counseling in women with BRCA mutations.ContentWe present the latest data on cancer risks in women with HBOC and analyze the influence of cancer treatment and preventive surgery on the reproductive potential. Epidemiological studies on fertility issues in BRCA mutation carriers showed heterogeneous results. However, several authors showed a decreased ovarian reserve with lower Anti-Müllerien hormone (AMH) levels and poorer response to ovarian stimulation in BRCA positive women. The diagnosis of BRCA mutations influences reproductive decision-making. Additionally, the shortened reproductive window and the need to complete family planning early has a significant psychological impact.Summary and OutlookThis article highlights the importance of fertility counseling in BRCA mutation carriers. Individual fertility counseling is mandatory. Fertility preservation strategies should be discussed.

Abstract DP-005: RNA-SEQUENCING OF FALLOPIAN TUBE – FIMBRIA AND HGSC FROM BRCA MUTATION CARRIERS

2019 ◽  
Author(s):  
Ramlogan Sowamber ◽  
Leah Dodds ◽  
Anca Milea ◽  
Iru Paudel ◽  
Michael Considine ◽  
...  
Keyword(s):  
Rna Sequencing ◽  
Fallopian Tube ◽  
Brca Mutation ◽  
Mutation Carriers ◽  
Brca Mutation Carriers

Uptake of surgical prophylaxis in underserved, ethnic minority BRCA mutation carriers.

2012 ◽  
Vol 30 (27_suppl) ◽  
pp. 45-45
Author(s):  
Heather R. Macdonald ◽  
Charite Ricker ◽  
Neisha Opper ◽  
Grace G. Wong
Keyword(s):  
Cancer Diagnosis ◽  
Brca Mutation ◽  
Medically Underserved ◽  
Prophylactic Surgery ◽  
Underserved Population ◽  
Surgical Prophylaxis ◽  
Brca Mutations ◽  
Mutation Carriers ◽  
Brca Mutation Carriers ◽  
Medically Underserved Population

45 Background: Little data exist regarding uptake of surgical prophylaxis in the underserved clinical setting. This study describes acceptance of surgical prophylaxis amongst BRCA mutation carriers in a primarily Hispanic (60%) and Asian (15%) medically underserved population. Methods: An IRB-approved retrospective chart review of deleterious or suspected deleterious BRCA mutations carriers extracted clinicopathologic data, surgical history, and family cancer history. Patients younger than the recommended age of prophylaxis, undergoing active therapy, or with metastatic cancer were excluded. Results: Forty-six carriers of known or suspected deleterious BRCA mutations expressed decisions regarding prophylactic bilateral salpingo-oophorectomy and/or mastectomy. Thirty nine women identified themselves as Hispanic, 32 from Mexico. Three women were Asian, 2 African American and 1 Middle Eastern. Forty-two patients were previously affected by cancer, with a mean age at first cancer diagnosis of 42. Four patients were unaffected. Thirty-two women with a previous cancer diagnosis accepted prophylaxis: 11 RRM plus RRSO, 10 RRSO only, 11 RRM only. Three unaffected women underwent RRSO only. None of the unaffected patients chose RRM only. Presence of an affected family member younger than 35 at time of cancer diagnosis correlated with uptake of prophylactic surgery (18 accepted vs. 1 declined; p=0.01). There was a trend towards acceptance of prophylaxis among women with earlier TNM stage that did not reach statistical significance. Conclusions: More than 50% of eligible BRCA mutation carriers in this medically underserved population underwent RRM, RRSO, or both. Young family members affected with cancer positively influenced acceptance of surgical prophylaxis. [Table: see text]

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