Genetic risk assessment for breast and gynecological malignancies

Profato, Jessica; Arun, Banu K.

doi:10.1097/gco.0000000000000142

Cited by 4 publications

(3 citation statements)

References 40 publications

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“…Australian guidelines recommend BRCA gene testing for breast cancer patients with a mutation risk of ⩾10 per cent, as calculated by BRCA probability models or based on breast cancer characteristics, with approximately 25 per cent leakage expected (eviQ, 2017). In this patient cohort, evidence-based guidelines were effective in identifying high risk individuals, however, the 33.33 per cent leakage is not ideal (Profato and Arun, 2015). When applying the more inclusive, updated guidelines, the leakage rate was reduced to 8.33 per cent, confirming the updated guidelines are indeed more effective in identifying BRCA mutations.…”

Section: Discussionmentioning

confidence: 99%

Adherence to referral guidelines

Spigelman

2019

IJHG

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Purpose A significant subset of patients (12 per cent) with triple negative breast cancer (TNBC) is BRCA mutation carriers, which can be identified through genetic testing. The purpose of this paper is to evaluate the referral practice for TNBC patients with reference to New South Wales (NSW) referral guidelines at the time of diagnosis and to assess the effectiveness of such guidelines in identifying BRCA mutations. Robust health governance requires monitoring of adherence to evidence-based guidelines such as those that underpin referral for cancer genetic testing in this clinical scenario. Design/methodology/approach The authors conducted a retrospective clinical audit of identified TNBC patients at St Vincent’s Hospital (SVH) between 2006 and 2016 in NSW, comparing referral practice to guidelines extant at the time of diagnosis. Family history was considered for age guideline-inappropriate referrals to SVH while the results of BRCA gene testing were assessed for all referred. Findings Overall, of the 17 patients eligible for referral based on the age criterion, 10 (58.5 per cent) were referred appropriately; however, there were substantial improvements from 2012 with 100 per cent referred. Of note, 12 (33.4 per cent) of 36 patients referred to SVH were referred outside of guidelines, pointing to other reasons for referral, such as patient age (OR 0.945; 95% CI 0.914–0.978) and calendar year (OR: 1.332; 95% CI: 1.127–1.575) at TNBC diagnosis. Referral guidelines captured 66.67 per cent of identified deleterious BRCA mutations in those tested. Originality/value Substantial under-referral of guideline-eligible patients was identified, with evidence-based guidelines effective in identifying high-risk individuals for BRCA mutation testing. There was, however, a substantial proportion of guideline-inappropriate referrals.

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Section: Discussionmentioning

confidence: 99%

Adherence to referral guidelines

Spigelman

2019

IJHG

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“…Salvatore et al also noted a significant improvement in the quality of life and sexual activity when laser therapy was used in women with VVA. 51 …”

Section: Laser Therapiesmentioning

confidence: 99%

Current treatment options for postmenopausal vaginal atrophy

Naumova

Castelo-Branco

2018

IJWH

101

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Vulvovaginal atrophy (VVA) is a silent epidemic that affects up to 50%–60% of postmenopausal women who are suffering in silence from this condition. Hormonal changes, especially hypoestrogenism inherent in menopause, are characterized by a variety of symptoms. More than half of menopausal women are concerned about the symptoms of VVA, such as dryness, burning, itching, vaginal discomfort, pain and burning when urinating, dyspareunia, and spotting during intercourse. All these manifestations significantly reduce the quality of life and cause discomfort in the sexual sphere. However, according to research, only 25% of patients with the symptoms of VVA receive adequate therapy. This is probably due to the lack of coverage of this problem in the society and the insufficiently active position of specialists in the field of women’s health regarding the detection of symptoms of VVA. Many patients are embarrassed to discuss intimate complaints with a specialist, which makes it difficult to verify the diagnosis in 75% of cases, and some patients regard the symptoms of VVA as manifestations of the natural aging process and do not seek help. Modern medicine has in the arsenal various options for treating this pathological condition, including systemic and topical hormone replacement therapy, the use of selective estrogen receptor modulators, vaginal dehydroepiandrosterone, use of lubricants and moisturizers, as well as non-drug therapies. Timely diagnosis and adequately selected therapy for the main symptoms of VVA lead to restoration and maintenance of the vaginal function and vaginal health.

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“…As a consequence, clinical preventive-prophylactic strategies have been proposed (www.nccn.org) for subjects carrying pathogenic mutations in these genes thus making urgent the individualization of appropriate criteria to candidate woman to BRCA1/2 genetic test [3]. The problem of best criteria for genetic counseling enrollment was debated since the last decade generally concluding that presence of familiarity and high risk for BRCA mutation probability calculated by specific softwares [4] should be utilized in routine clinical practice.…”

Section: Introductionmentioning

confidence: 99%

BRCA germline mutation test for all woman with ovarian cancer?

et al. 2019

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Background Delivering widespread BRCA testing to patients with ovarian cancer has been suggested by several scientists, recommended by professional societies and solicited by patients organizations. However, based on the lack of studies clearly demonstrating the cost-effectiveness of such approach compared to standard practice, we evaluated the possibility to better select subgroups of ovarian cancer (OC) patients with higher probability to be a BRCA mutation carrier’. Methods We analyzed the database of 2222 germline BRCA analyses from OC patients recently published by Song et al. (Song 2014) by applying multivariate and conditional inference regression tree-analyses. Results Overall, 178/2192 (8.1%) evaluable OC women showed pathogenic germline mutations in BRCA genes (84 BRCA1;94 BRCA2). BRCA mutations resulted significantly more frequent in Epithelial tumors (10.7%), less differentiated tumours (11.0%) and younger subjects (13.4%). Regression tree analysis permitted to individualize a subset of 66% OC patients with particularly low risk (3.5%) to carry a BRCA mutation vs a subgroup (24% of the series), with a probability higher than 17% to carry a pathogenic mutation. Younger age, OC and Breast Cancer family history were confirmed powerful factors in selecting subgroups of patients with significantly different BRCA mutation probability. Conclusions Our regression tree-analysis can represent an innovative approach taking into consideration all main clinical pathological information to select OC patients to be candidated for BRCA test.

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Genetic risk assessment for breast and gynecological malignancies

Cited by 4 publications

References 40 publications

Adherence to referral guidelines

Adherence to referral guidelines

Current treatment options for postmenopausal vaginal atrophy

BRCA germline mutation test for all woman with ovarian cancer?

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