The use of preventive measures among healthy women who carry a BRCA1 or BRCA2 mutation

Metcalfe, Kelly; Snyder, Carrie; Seidel, Jennifer; Hanna, Danielle; Lynch, Henry T.; Narod, Steven A.

doi:10.1007/s10689-005-4215-3

Cited by 76 publications

(76 citation statements)

References 33 publications

Supporting

Mentioning

Contrasting

Unclassified

Order By: Relevance

“…Life stage, occupation, and educational commitments may also lead to a deferment for some women. The results of this study show that it is inappropriate to assume that uptake after as little as 1 to 3 years of follow-up will be the definitive figure for all women (22)(23)(24)(25)(26)(27)(28)(29)(30). Previous studies show uptakes of between 0% to 54% for BRRM, in BRCA1/2 mutation carriers, but do not discuss the likelihood of further women undergoing the procedure.…”

Section: Discussionmentioning

confidence: 63%

Uptake of Risk-Reducing Surgery in Unaffected Women at High Risk of Breast and Ovarian Cancer Is Risk, Age, and Time Dependent

Evans

Lalloo

Ashcroft

et al. 2009

Cancer Epidemiology, Biomarkers &Amp; Prevention

132

107

View full text Add to dashboard Cite

Purpose: The uptake of risk-reducing surgery in women at increased risk of breast and ovarian cancer is highly variable between countries and centers within countries. We have investigated the rate, timing, and age of uptake of surgery in the northwest of England to report the results after up to 7 years in a Regional Genetics center. Methods: Uptake was documented in 211 known unaffected BRCA1/2 mutation carriers from 509 families and in 3,515 women at >25% lifetime risk of breast cancer without known mutations. Results: Of the 211 mutation carriers, 40% opted for bilateral risk-reducing mastectomy (BRRM) and 45% underwent bilateral risk-reducing salpingo-oophorectomy (BRRSPO). Uptake of BRRM was significantly related to lifetime risk and age but continued over several years. In women not known to carry a BRCA mutation, 6.4% of women at 40% to 45% lifetime risk, 2.5% of women at 33% to 39% lifetime risk, and 1.8% of women at 25% to 32% lifetime risk underwent BRRM (P < 0.005). BRRSPO uptake was greater in BRCA1 (52%) than BRCA2 (28%) carriers but in both groups tended to occur within the first 2 years after gene test (except in the youngest age group) and in women between the ages of 35 and 45. Conclusion: To truly assess the uptake of risk-reducing surgery, longer-term follow-up is necessary particularly in younger women who are likely to delay BRRSPO. Careful risk counseling does seem to influence women's decisions for surgery, although the effect is not immediate. (Cancer Epidemiol Biomarkers Prev 2009;18(8): 2318-24)

show abstract

Section: Discussionmentioning

confidence: 63%

Uptake of Risk-Reducing Surgery in Unaffected Women at High Risk of Breast and Ovarian Cancer Is Risk, Age, and Time Dependent

Evans

Lalloo

Ashcroft

et al. 2009

Cancer Epidemiology, Biomarkers &Amp; Prevention

132

107

View full text Add to dashboard Cite

show abstract

“…Armed with genetic results, physicians may offer risk-reducing options for mutation carriers who have, thus far, not developed cancer, such as prophylactic mastectomy and oophorectomy, prophylactic tamoxifen, or surveillance [24][25][26][27][28].…”

Section: Open Accessmentioning

confidence: 99%

Mutations in BRCA1, BRCA2 and other breast and ovarian cancer susceptibility genes in Central and South American populations

et al. 2017

View full text Add to dashboard Cite

Breast cancer (BC) is the most common malignancy among women worldwide. A major advance in the understanding of the genetic etiology of BC was the discovery of BRCA1 and BRCA2 (BRCA1/2) genes, which are considered high-penetrance BC genes. In non-carriers of BRCA1/2 mutations, disease susceptibility may be explained of a small number of mutations in BRCA1/2 and a much higher proportion of mutations in ethnicity-specific moderate-and/or low-penetrance genes. In Central and South American populations, studied have focused on analyzing the distribution and prevalence of BRCA1/2 mutations and other susceptibility genes that are scarce in Latin America as compared to North America, Europe, Australia, and Israel. Thus, the aim of this review is to present the current state of knowledge regarding pathogenic BRCA variants and other BC susceptibility genes. We conducted a comprehensive review of 47 studies from 12 countries in Central and South America published between 2002 and 2017 reporting the prevalence and/or spectrum of mutations and pathogenic variants in BRCA1/2 and other BC susceptibility genes. The studies on BRCA1/2 mutations screened a total of 5956 individuals, and studies on susceptibility genes analyzed a combined sample size of 11,578 individuals. To date, a total of 190 different BRCA1/2 pathogenic mutations in Central and South American populations have been reported in the literature. Pathogenic mutations or variants that increase BC risk have been reported in the following genes or genomic regions: ATM, BARD1, CHECK2, FGFR2, GSTM1, MAP3K1, MTHFR, PALB2, RAD51, TOX3, TP53, XRCC1, and 2q35.

show abstract

“…In total, 16 studies assessed the impacts of genetic testing for hereditary breast and ovarian cancer (HBOC), [11][12][13][14][15][16][17][18][19][20][21][22][23][24][25][26][27][28][29][30] 11 for HNPCC, [31][32][33][34][35][36][37][38][39][40][41] one for both HBOC and HNPCC, 42 and two for AD. 43,44 In the studies on HBOC, the vast majority of participants were female.…”

Section: Study Characteristicsmentioning

confidence: 99%

“…12,26 Also, two studies examined the impact of genetic testing on general health behaviors. 13,43 Although 43-52% of subjects tested for HBOC reported having made lifestyle changes believed to promote health and/or reduce cancer risk (e.g., change diet, exercise, quit smoking) since being tested, both carriers and noncarriers, and males and females, made similar changes.…”

Section: Use Of Chemotherapeutics and Other Health-related Behaviorsmentioning

confidence: 99%

A systematic review of perceived risks, psychological and behavioral impacts of genetic testing

Heshka

Palleschi

Howley

et al. 2008

Genetics in Medicine

286

255

View full text Add to dashboard Cite

Genetic testing may enable early disease detection, targeted surveillance, and result in effective prevention strategies. Knowledge of genetic risk may also enable behavioral change. However, the impact of carrier status from the psychological, behavior, and perceived risk perspectives is not well understood. We conducted a systematic review to summarize the available literature on these elements. An extensive literature review was performed to identify studies that measured the perceived risk, psychological, and/or behavioral impacts of genetic testing on individuals. The search was not limited to specific diseases but excluded the impacts of testing for single gene disorders. A total of 35 articles and 30 studies were included. The studies evaluated hereditary nonpolyposis colorectal carcinoma, hereditary breast and ovarian cancer, and Alzheimer disease. For affective outcomes, the majority of the studies reported negative effects on carriers but these were short-lived. For behavioral outcomes, an increase in screening behavior of varying rates was demonstrated in carriers but the change in behaviors was less than expected. With respect to perceived risk, there were generally no differences between carriers and noncarriers by 12 months after genetic testing and over time risk perception decreased. Overall, predispositional genetic testing has no significant impact on psychological outcomes, little effect on behavior, and did not change perceived risk. It seems as though better patient education strategies are required. Our data would suggest better knowledge among carriers would not have significant psychological impacts and therefore, it is worth pursuing improved educational strategies. Genet Med 2008:10(1):19 -32.

show abstract

The use of preventive measures among healthy women who carry a BRCA1 or BRCA2 mutation

Cited by 76 publications

References 33 publications

Uptake of Risk-Reducing Surgery in Unaffected Women at High Risk of Breast and Ovarian Cancer Is Risk, Age, and Time Dependent

Uptake of Risk-Reducing Surgery in Unaffected Women at High Risk of Breast and Ovarian Cancer Is Risk, Age, and Time Dependent

Mutations in BRCA1, BRCA2 and other breast and ovarian cancer susceptibility genes in Central and South American populations

A systematic review of perceived risks, psychological and behavioral impacts of genetic testing

Contact Info

Product

Resources

About