Use of Genetic Testing and Prophylactic Mastectomy and Oophorectomy in Women With Breast or Ovarian Cancer From Families With a BRCA1 or BRCA2 Mutation

2003 ◽  
Vol 21 (9) ◽  
pp. 1675-1681 ◽  
Author(s):  
Hanne Meijers-Heijboer ◽  
Cecile T.M. Brekelmans ◽  
Marian Menke-Pluymers ◽  
Caroline Seynaeve ◽  
Astrid Baalbergen ◽  
...  
Keyword(s):  
Ovarian Cancer ◽  
Genetic Testing ◽  
Genetic Test ◽  
Prophylactic Mastectomy ◽  
Brca2 Mutation ◽  
Prophylactic Surgery ◽  
Primary Tumors ◽  
The Family ◽  
Brca1 Brca2 ◽  
Contralateral Mastectomy

Purpose: To analyze the use of genetic testing, prophylactic mastectomy, and oophorectomy among women with breast and/or ovarian cancer from families with a BRCA1 or BRCA2 mutation. Patients and Methods: We examined prospectively the use of BRCA1/BRCA2 testing in all women with a primary breast or ovarian cancer from a consecutive series of 112 high-risk families in which a BRCA1/BRCA2 mutation eventually was identified. The rate of prophylactic bilateral and contralateral mastectomy and prophylactic oophorectomy was analyzed in the women who carried a BRCA1/BRCA2 mutation and who had no metastatic disease at the time of the genetic test disclosure. We examined predictors for genetic test uptake and prophylactic surgery using univariate and multivariate analysis. Results: Overall, 192 of 220 women (87%) with primary tumors underwent genetic testing. Eleven of these 192 tested women (6%) appeared not to carry the family-specific BRCA1/BRCA2 mutation. Genetic testing occurred significantly more frequently at ages younger than 50 years (P = .04) and in persons with multiple primary tumors (P = .02). Among eligible women, 35 of 101 (35%) requested bilateral or contralateral mastectomy, and 47 of 95 (49%) requested oophorectomy. Women aged younger than 50 years and women who developed their first tumor after the initial identification of a BRCA1/BRCA2 mutation in the family were significantly (both P = .01) more likely to opt for prophylactic bilateral or contralateral mastectomy. Conclusion: In a clinical setting, we show a high demand for BRCA1/BRCA2 testing and for prophylactic surgery by women with breast and/or ovarian cancer from high-risk families.

Racial differences in the use of contralateral prophylactic mastectomy among women undergoing BRCA1/BRCA2 genetic testing

2009 ◽  
Vol 27 (15_suppl) ◽  
pp. 6542-6542
Author(s):  
K. Ready ◽  
A. M. Gutierrez-Barrera ◽  
J. Litton ◽  
F. Meric-Bernstam ◽  
A. M. Gonzalez-Angulo ◽  
...  
Keyword(s):  
Genetic Testing ◽  
African Americans ◽  
Genetic Test ◽  
Prophylactic Mastectomy ◽  
Brca2 Mutation ◽  
Contralateral Prophylactic Mastectomy ◽  
Genetic Test Results ◽  
Race Ethnicity ◽  
Brca1 Brca2

6542 Background: Patients often use both positive and negative BRCA1/BRCA2 genetic test results to aid in surgical management decisions, but little is known about the existence of racial/ethnic differences in the use of genetic test results. The objective of this study was to evaluate differences in rates of contralateral prophylactic mastectomy (CPM) by race. Methods: A retrospective chart review was performed. Women with a personal history of breast cancer who underwent genetic testing for the BRCA1 and BRCA2 genes at our institution between 1996 and 2008 and were eligible for CPM were included in the study. Genetic test result, race/ethnicity as reported by the patient, years of follow-up since receipt of test result, and decision regarding CPM were recorded. Pearson chi square analyses and Fisher's exact tests were performed to test for significance. Results: 881 women were included in the study. Twenty percent (n = 180) were found to have a BRCA1 or BRCA2 mutation, while 80% (n = 701) were found to have an uninformative negative result. The study population was 87% (n = 771) Caucasian; 7% (n = 58) African American; and 6% (n = 52) Hispanic. Median follow up time was 3 years. There were no significant differences in either follow up time or percentages of BRCA positivity, based on race/ethnicity. Among those with a positive result, 45% (67/149) of Caucasians, 33% (5/15) of African Americans, and 50% (8/16) of Hispanics underwent CPM, but this was not statistically significant. Caucasians and Hispanics with positive results were significantly more likely than their counterparts with negative results to undergo CPM (Caucasians, 45%; 67/149 vs. 16%; 101/622; p<.001; Hispanics, 50%; 8/16 vs. 11%; 4/36; p = 0.004), but this same trend was not observed among African Americans (positive results, 33%; 5/15 vs. negative results, 14%; 6/43; p = 0.10). Conclusions: Among those with a BRCA1/BRCA2 mutation, there does not appear to be any significant difference in the use of CPM based on race/ethnicity. However, Caucasians and Hispanics appear to be more likely than African Americans to use the results of genetic testing to make surgical management decisions. No significant financial relationships to disclose.

scholarly journals Underestimation of Risk of a BRCA1 or BRCA2 Mutation in Women With High-Grade Serous Ovarian Cancer by BRCAPRO: A Multi-Institution Study

2014 ◽  
Vol 32 (12) ◽  
pp. 1249-1255 ◽  
Author(s):  
Molly S. Daniels ◽  
Sheri A. Babb ◽  
Robin H. King ◽  
Diana L. Urbauer ◽  
Brittany A.L. Batte ◽  
...  
Keyword(s):  
Ovarian Cancer ◽  
Genetic Testing ◽  
Family History ◽  
Brca2 Mutation ◽  
Model Performance ◽  
High Grade ◽  
Serous Ovarian Cancer ◽  
Cancer History ◽  
Family Cancer History ◽  
Brca1 Brca2

Purpose Identification of the 10% to 15% of patients with ovarian cancer who have germline BRCA1 or BRCA2 mutations is important for management of both patients and relatives. The BRCAPRO model, which estimates mutation likelihood based on personal and family cancer history, can inform genetic testing decisions. This study's purpose was to assess the accuracy of BRCAPRO in women with ovarian cancer. Methods BRCAPRO scores were calculated for 589 patients with ovarian cancer referred for genetic counseling at three institutions. Observed mutations were compared with those predicted by BRCAPRO. Analysis of variance was used to assess factors impacting BRCAPRO accuracy. Results One hundred eighty (31%) of 589 patients with ovarian cancer tested positive. At BRCAPRO scores less than 40%, more mutations were observed than expected (93 mutations observed v 34.1 mutations expected; P < .001). If patients with BRCAPRO scores less than 10% had not been tested, 51 (28%) of 180 mutations would have been missed. BRCAPRO underestimated the risk for high-grade serous ovarian cancers but overestimated the risk for other histologies (P < .001), underestimation increased as age at diagnosis decreased (P = .02), and model performance varied by institution (P = .02). Conclusion Patients with ovarian cancer classified as low risk by BRCAPRO are more likely to test positive than predicted. The risk of a mutation in patients with low BRCAPRO scores is high enough to warrant genetic testing. This study demonstrates that assessment of family history by a validated model cannot effectively target testing to a high-risk ovarian cancer patient population, which strongly supports the recommendation to offer BRCA1/BRCA2 genetic testing to all patients with high-grade serous ovarian cancer regardless of family history.

What Would You Do? Specialists’ Perspectives on Cancer Genetic Testing, Prophylactic Surgery, and Insurance Discrimination

2000 ◽  
Vol 18 (12) ◽  
pp. 2484-2492 ◽  
Author(s):  
Ellen T. Matloff ◽  
Heather Shappell ◽  
Karina Brierley ◽  
Barbara A. Bernhardt ◽  
Wendy McKinnon ◽  
...  
Keyword(s):  
Genetic Testing ◽  
Cancer Genetics ◽  
Brca2 Mutation ◽  
Insurance Companies ◽  
Prophylactic Surgery ◽  
Cancer Genetic Counseling ◽  
National Society ◽  
Cancer Genetic ◽  
Prophylactic Oophorectomy ◽  
Brca1 Brca2

PURPOSE: To examine what cancer genetics specialists predict they would do personally if they were at 50% risk of carrying a mutation that predisposes to hereditary breast/ovarian cancer (BRCA1/BRCA2) and hereditary nonpolyposis colon cancer (HNPCC). METHODS: Questionnaire survey of the membership of the National Society of Genetic Counselors (NSGC) Special Interest Group (SIG) in Cancer. RESULTS: Of the 296 active members of the NSGC Cancer-SIG surveyed, 163 (55%) responded. Eighty-five percent predicted that if they had a 50% risk of carrying a BRCA1/BRCA2 mutation, they would pursue genetic testing. If they tested positive for a mutation at age 35, 25% predicted they would pursue prophylactic bilateral mastectomies and 68%, prophylactic oophorectomy. Ninety-one percent of respondents believe they would pursue genetic testing for HNPCC, and 17% would elect prophylactic colectomy; 54%, prophylactic hysterectomy; and 52%, prophylactic oophorectomy if they tested positive for a mutation. The majority (68%) would not bill their insurance companies for genetic testing because of fear of discrimination, and 26% would use an alias when undergoing testing. Fifty-seven percent of counselors would seek professional psychologic support to help them cope with the results of testing. CONCLUSION: A large percentage of cancer genetic counseling providers predicted they would opt for prophylactic surgery at a young age if they carried a BRCA or HNPCC mutation, and most would seek professional psychologic assistance when undergoing testing. More than half of respondents would not bill their insurance companies for genetic testing, largely because of fear of genetic discrimination. The vast majority of those providers most familiar with cancer genetic testing and its associated medical, psychologic, and legal implications would still pursue genetic testing.

Identification and management of familial breast cancer in Austria

2017 ◽  
Vol 32 (2) ◽  
Author(s):  
Christian F. Singer ◽  
Yen Y. Tan ◽  
Christine Rappaport
Keyword(s):  
Breast Cancer ◽  
Ovarian Cancer ◽  
Genetic Counseling ◽  
Genetic Testing ◽  
Familial Breast Cancer ◽  
Prophylactic Surgery ◽  
Management Options ◽  
Counseling And Testing ◽  
Legal Implications

AbstractAimThe aim of this study is to review the legal implications, the technology, the indications and the management of women with a familial background of breast and/or ovarian cancer.MethodsWe have reviewed the literature and national Austrian guidelines to describe the uptake of genetic counseling and the management options offered in Austria.ResultsGenetic testing for theConclusionWhile readily available country-wide counseling has led to an increase in counseling and testing, Austrian legislation mandates “non-directional counseling” resulting in a comparatively low uptake of prophylactic surgery.

Genetic Testing for Women Previously Diagnosed with Breast/Ovarian Cancer: Examining the Impact of BRCA1 and BRCA2 Mutation Searching

2002 ◽  
Vol 6 (2) ◽  
pp. 79-87 ◽  
Author(s):  
N. Hallowell ◽  
C. Foster ◽  
A. Ardern-Jones ◽  
R. Eeles ◽  
V. Murday ◽  
...  
Keyword(s):  
Ovarian Cancer ◽  
Genetic Testing ◽  
Brca2 Mutation ◽  
Brca1 And Brca2 ◽  
The Impact

Intention to communicate BRCA1/BRCA2 genetic test results to the family.

2008 ◽  
Vol 22 (2) ◽  
pp. 303-312 ◽  
Author(s):  
Andrea M. Barsevick ◽  
Susan V. Montgomery ◽  
Karen Ruth ◽  
Eric A. Ross ◽  
Brian L. Egleston ◽  
...  
Keyword(s):  
Genetic Test ◽  
Test Results ◽  
Genetic Test Results ◽  
The Family ◽  
Brca1 Brca2

Moving Toward Personalized Medicine: Treatment-Focused Genetic Testing of Women Newly Diagnosed With Ovarian Cancer

2010 ◽  
Vol 20 (5) ◽  
pp. 704-716 ◽  
Author(s):  
Alison H. Trainer ◽  
Bettina Meiser ◽  
Kaaren Watts ◽  
Gillian Mitchell ◽  
Kathy Tucker ◽  
...  
Keyword(s):  
Ovarian Cancer ◽  
Genetic Testing ◽  
Family History ◽  
Mutation Frequency ◽  
Brca Mutation ◽  
Brca2 Mutation ◽  
Age At Onset ◽  
Prognostic Significance ◽  
Brca1 And Brca2 ◽  
Germline Brca Mutation

Objectives:The presence of a germline BRCA mutation defines a genotype-specific group of women whose invasive ovarian cancer is associated with an increasingly well-defined prognostic and chemosensitivity biological profile. To determine the criteria that may be used to select patients for BRCA treatment-focused genetic testing, we performed a systemic literature search of studies that assessed BRCA1 and BRCA2 mutation frequency in women with ovarian cancer unselected for family history. The results are discussed with regard to the added clinical value gained by identifying a germline BRCA mutation at the time of the ovarian cancer diagnosis.Methods:BRCA-related studies were identified in the CD-ROM databases PubMed (including MEDLINE), PsychINFO, and CINAHL and included in the review if they met the following criteria: they (a) assessed mutation frequency in women with ovarian cancer who were unselected for family history and ethnicity, (b) were published in a peer-review journal, (c) between January 1997 and October 2009, and (d) in the English language.Results:Studies investigating the prevalence of BRCA1 or BRCA2 mutations in ovarian cancer patients unselected for family history or ethnicity have found a pathological BRCA mutation rate of approximately 3% to 17%. Without a significant family history, specific features that may be used to target treatment-focused BRCA testing in the ovarian cancer setting include young age at onset (<50 years), high-grade serous tumor histology, and specific ethnicity associated with known BRCA founder mutations.Conclusions:We believe that given the growing appreciation of the prognostic significance of BRCA mutations and the differential chemosensitivity shown by these tumors, as well as the potential of novel agents such as poly(ADP-ribose) polymerase inhibitors, the identification of a germline BRCA mutation concurrent with a new diagnosis of ovarian cancer will significantly impact on tailoring personalized ovarian management in the future.

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]

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