Follow-up decisions and care after BRCA testing.

2014 ◽  
Vol 32 (26_suppl) ◽  
pp. 52-52
Author(s):  
Hadeel Assad ◽  
Maliha Naseer ◽  
Samira Ahsan
Keyword(s):  
Hormonal Therapy ◽  
Deleterious Mutation ◽  
Brca Mutation ◽  
Family Members ◽  
Personal History ◽  
Prophylactic Surgery ◽  
Brca Testing ◽  
History Of ◽  
Risk Reducing ◽  
History Of Cancer

52 Background: Women with a deleterious mutation in BRCA 1/2 genes have an increased lifetime risk of developing breast and ovarian cancer. A spectrum of risk reducing and early detection strategies exist including clinical and radiographic surveillance, hormonal therapy, and prophylactic surgery. Methods: We studied the pattern of clinicopreventive inclination among patients undergoing BRCA testing in our genetics center via a telephone based questionnaire. Differences in sociodemographic and clinical characteristics were identified using independent sample t-test and Fisher exact test. Results: A total of 320 individuals were seen at the genetics center between October 2007 and February 2013. Twenty-nine were eligible of which 25 agreed to participate; 20 were found to be BRCA positive and 5 were true negatives. Most participants (> 75%) informed family members they were undergoing BRCA testing and all women shared the result of their deleterious mutation. An average of 2.2 (SD: 1.28) subsequent family members were tested which led to the discovery of 1.33 (SD: 1.15) new deleterious BRCA mutation carriers. Of the 20 BRCA positive patients, 13 opted for prophylactic surgery of which 5 underwent prophylactic oophorectomy (PO), 4 had prophylactic mastectomy (PM), and another 4 combined PO with PM. The remaining chose increased surveillance. Hormonal therapy was used as a preventive program in 6 women, 4 combined it with prophylactic surgery. Data subanalysis revealed BRCA carriers who opted for prophylactic surgery were more likely to be white (> 75%), younger, multiparous, live in Detroit suburbs, and have a personal history of cancer (92% versus 83%, respectively). Screening and surveillance practices were variable in timing and modality. Conclusions: 65 % of women with deleterious BRCA mutation underwent prophylactic surgery as their cancer risk reducing method. Decisions regarding adopting least to most aggressive measures remain highly influenced by personal history of cancer as well as individual socioeconomic characteristics. Understanding factors that affect women’s decisions to adopt various risk reduction strategies will aid both mutation carriers and clinicians to decide on optimal management.

Preventive surgery after multiplex genetic panel testing (MGPT).

2019 ◽  
Vol 37 (15_suppl) ◽  
pp. 1525-1525 ◽  
Author(s):  
Gregory Idos ◽  
Allison W. Kurian ◽  
Charité Ricker ◽  
Duveen Sturgeon ◽  
Julie Culver ◽  
...  
Keyword(s):  
Pathogenic Variant ◽  
Personal History ◽  
Prophylactic Surgery ◽  
Cancer History ◽  
Variant Of Uncertain Significance ◽  
Negative Results ◽  
Panel Testing ◽  
Preventive Surgery ◽  
History Of ◽  
History Of Cancer

1525 Background: Guidelines recommend consideration of prophylactic surgery for patients with a germline pathogenic variant in some cancer predisposition genes. We assessed surgery utilization in a prospective, multi-institutional cohort study of MGPT. Methods: 2000 patients had MGPT and completed questionnaires at 3, 6, and 12 months. Patients reported surgical utilization and indication (treatment or prevention). Surgery utilization was assessed according to cancer history and MGPT test results: Positive, pathogenic variant; VUS, variant of uncertain significance; Negative, benign variants. Results: Overall, 12.9% (198/1537) of patients reported surgery after MGPT (median follow-up 13 months). Only 31.3% (62/198) of patients specified that their surgery was preventive. Preventive surgery utilization was significantly higher among patients who tested positive (n=30, 14.9%) compared to those testing negative (n=20, 2.3%, p<0.001) or VUS (n=12, 2.2%, p<0.001). Preventive surgery was very low among patients testing negative or VUS who had no personal history of cancer in the relevant organ (Table). For example, mastectomy was not reported among any patients testing negative or VUS who had no personal history of breast cancer (Table). Conclusions: More than one year after MGPT, prophylactic surgery use was low among patients with VUS or negative results, especially among those with no personal history of cancer at the relevant site. Surgery utilization. [Table: see text]

Clinical Characteristics Affect the Impact of an Uninformative DNA Test Result: The Course of Worry and Distress Experienced by Women Who Apply for Genetic Testing for Breast Cancer

2006 ◽  
Vol 24 (22) ◽  
pp. 3672-3677 ◽  
Author(s):  
Sandra van Dijk ◽  
Daniëlle R.M. Timmermans ◽  
Hanne Meijers-Heijboer ◽  
Aad Tibben ◽  
Christi J. van Asperen ◽  
...  
Keyword(s):  
Breast Cancer ◽  
Brca Mutation ◽  
Personal History ◽  
True Negative ◽  
Dna Test ◽  
Dna Mutation ◽  
Clinical Variables ◽  
History Of ◽  
Test Result ◽  
History Of Cancer

Purpose DNA mutation testing for breast cancer usually yields an uninformative result, which is a negative result in the absence of a known BRCA mutation within the family. However, few data are available on the psychological impact of this result. Moreover, the clinical heterogeneity within this group has not yet been considered. This study provides prospective data about the course of cancer-specific worry and distress for different groups of test applicants. Patients and Methods All DNA test applicants (n = 238) completed three questionnaires: before and 1 and 7 months after disclosure of a DNA mutation test. With repeated-measures analysis of variance, differences were assessed between BRCA1/2-positive women (n = 42), BRCA1/2–true-negative women (n = 43), and women with an uninformative test result (n = 153). Results On the group level, women with an uninformative result seemed to be reassured after disclosure (P < .001), but to a lesser extent than those women who received a true-negative result. However, not all women with an uninformative result reacted similarly: higher levels of worry and distress could be explained by relatively straightforward clinical variables, namely a personal history of cancer (P ≤ .001) and a higher pedigree-based risk (P ≤ .005). Furthermore, these clinical variables determined whether these women were either comparable to women who received a true-negative result or to BRCA mutation carriers. Conclusion Women with an uninformative result form a heterogeneous group of test applicants. The subpopulation of those with both a personal history of cancer and a relatively high pedigree-based risk expressed the highest levels of worry 7 months after DNA testing.

Accuracy of Self-Reported Personal History of Cancer in an Outpatient Breast Center

2007 ◽  
Vol 16 (3) ◽  
pp. 341-345 ◽  
Author(s):  
Francisco J. Dominguez ◽  
Christine Lawrence ◽  
Elkan F. Halpern ◽  
Brian Drohan ◽  
Georges Grinstein ◽  
...  
Keyword(s):  
Personal History ◽  
Breast Center ◽  
History Of ◽  
History Of Cancer

scholarly journals Cost Effectiveness of Risk-Reducing Mastectomy versus Surveillance in BRCA Mutation Carriers with a History of Ovarian Cancer

2017 ◽  
Vol 24 (11) ◽  
pp. 3116-3123 ◽  
Author(s):  
Charlotte Gamble ◽  
Laura J. Havrilesky ◽  
Evan R. Myers ◽  
Junzo P. Chino ◽  
Scott Hollenbeck ◽  
...  
Keyword(s):  
Ovarian Cancer ◽  
Cost Effectiveness ◽  
Brca Mutation ◽  
Mutation Carriers ◽  
Brca Mutation Carriers ◽  
History Of ◽  
Risk Reducing

scholarly journals Family history of cancer, personal history of medical conditions and risk of oral cavity cancer in France: the ICARE study

BMC Cancer ◽  
2013 ◽  
Vol 13 (1) ◽  
Author(s):  
Loredana Radoï ◽  
Sophie Paget-Bailly ◽  
Florence Guida ◽  
Diane Cyr ◽  
Gwenn Menvielle ◽  
...  
Keyword(s):  
Family History ◽  
Oral Cavity ◽  
Oral Cavity Cancer ◽  
Personal History ◽  
Medical Conditions ◽  
Family History Of Cancer ◽  
History Of ◽  
History Of Cancer

Risk-reducing salpingo-oophorectomy and prophylactic mastectomy among BRCA mutation “previvors.”

2012 ◽  
Vol 30 (15_suppl) ◽  
pp. 1518-1518
Author(s):  
Laura L. Holman ◽  
Molly S Daniels ◽  
Amanda C. Brandt ◽  
Banu Arun ◽  
Elizabeth Keeler ◽  
...  
Keyword(s):  
Ovarian Cancer ◽  
Cancer Screening ◽  
High Risk ◽  
Prophylactic Mastectomy ◽  
Brca Mutation ◽  
Premenopausal Women ◽  
Prophylactic Surgery ◽  
Ovarian Cancer Screening ◽  
Brca Mutation Carriers ◽  
Risk Reducing

1518 Background: We prospectively evaluated the timing and uptake of risk-reducing surgery in a cohort of female BRCA mutation carriers that have no personal cancer history (“previvors”). Methods: Patients at high risk of breast and ovarian cancer were enrolled between 2007 and 2011 and followed in a high-risk ovarian cancer screening clinic. Women were offered risk-reducing salpingo-oophorectomy (RRSO) and/or prophylactic mastectomy (PM) per guidelines. Their clinical data were recorded and analyzed using descriptive statistics. Results: Of 260 BRCA mutation carriers enrolled, 73 have no personal history of cancer and are “previvors.” Patients have been followed for a median of 26.5 months (1-50 months). The median age is 38 years, 81.1% are white, 16.2% are Ashkenazi Jewish, and 79.7% are premenopausal. BRCA1 carriers account for 43.2% of participants and 55.4% have a BRCA2 mutation. The majority of patients (77.6%) presented for ovarian cancer screening <1 year after their BRCA testing. In all, 60.8% of women underwent prophylactic surgery: 28.4% chose RRSO, 18.9% chose PM, and 13.5% chose both procedures. Postmenopausal women were more likely to choose RRSO, while uptake for both procedures was common for premenopausal women (Table, p=0.04). RRSO was also more likely in parous than nulliparous premenopausal women (35.2% vs 9% p=0.001). PM was not associated with parity (p=0.79). Of women that had both surgeries, 20% had them concurrently and 20% had PM first. Of the 60% that underwent RRSO first, all had their second surgery within 14 months. Conclusions: BRCA mutation “previvors” have a high overall uptake of prophylactic surgery. Premenopausal women are more likely to choose PM than postmenopausal women; reasons for this are unclear. “Previvors” that choose RRSO and PM typically have both surgeries within a fairly short timeframe. With the growing population of “previvors” in the US, further study of patient preferences regarding preventative surgery and long-term consequences is needed. [Table: see text]

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]

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