Gynecological–endocrinological aspects in women carriers of <i>BRCA1/2</i> gene mutations

Doren, Adriana; Vecchiola, Andrea; Aguirre, B.; Villaseca, Paulina

doi:10.1080/13697137.2018.1514006

Cited by 14 publications

(10 citation statements)

References 50 publications

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“…The low 'Q-sexual well-being' scores might also be explained by the high proportion of women with a risk-reducing ovarian cancer intervention (RRSO or tubectomy). Since RRSO substantially decreases the levels of estrogen and testosterone, it has an effect on quality of life and sexual functioning, among other domains, at an early age [29,30]. However, we also compared mean 'Q-sexual well-being' scores between women with and without RRSO/tubectomy and found slightly higher mean scores in the RRSO/tubectomy group (i.e., 65.04 [60.01-70.07] and 55.90 [49.43-62.38], respectively).…”

Section: Discussionmentioning

confidence: 99%

Patient-Reported Outcome Measures may optimize shared decision-making for cancer risk management in BRCA mutation carriers

et al. 2019

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Purpose The aim of this study was to compare patient-reported outcomes (PROs) of BRCA1/2 mutation carriers, either after bilateral prophylactic mastectomy (BPM) or during breast surveillance, to improve shared decision-making in their cancer risk management. Methods Unaffected BRCA1/2 mutation carriers at least one year after BPM followed by immediate breast reconstruction (BPM-IBR) or one year under surveillance were eligible. After informed consent, the Hospital Anxiety and Depression Scale (HADS) and BREAST-Q were administered and compared between the different strategies. PROs were also compared to available normative data. Results Ninety-six participants were analyzed in this study and showed significant differences between strategies in age, age at genetic testing, and time since BPM or starting breast surveillance. All HADS scores were below 8 suggesting no signs of anxiety or depression in both groups. Higher mean ‘Q-physical well-being’ scores were reported by the surveillance group (81.78 [CI 76.99–86.57]) than the BPM group (76.96 [CI 73.16 – 80.75]; p = 0.011). Overall, for both questionnaires better scores were seen when compared to age-matched normative data. Conclusions No signs of anxiety or depression were seen in the surveillance or BPM-IBR group. Slightly better mean BREAST-Q scores were seen for the surveillance group in comparison to BPM-IBR, except for ‘Q-psychological well-being’. The difference in ‘Q-physical well-being’ was significantly worse for BPM-IBR. Approaches to obtain longitudinal PROs and reference values should be explored in the future, which could add value to shared decision-making in regards to breast cancer risk management in this specific patient population.

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Section: Discussionmentioning

confidence: 99%

Patient-Reported Outcome Measures may optimize shared decision-making for cancer risk management in BRCA mutation carriers

et al. 2019

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“…There are multiple reasons why breast cancer occurs, and most of them are associated with genetic mutations that can be hereditary or resulting from lifestyle or environmental influences on a gene or set of genes. It is understood that 5–10% of breast cancer cases are due to mutations of the breast cancer genes (BRCA1 and 2), with 25% of cases occurring in patients under the age of 30 years [ 3 ]. There are also reproductive factors that contribute, which include early onset of menorrhea before the age of 12 years, delayed childbearing and childbirth after the age of 30 years, nulliparity, and menopause after the age of 55 years [ 3 , 4 ].…”

Section: Breast Cancer Etiopathologymentioning

confidence: 99%

“…It is understood that 5–10% of breast cancer cases are due to mutations of the breast cancer genes (BRCA1 and 2), with 25% of cases occurring in patients under the age of 30 years [ 3 ]. There are also reproductive factors that contribute, which include early onset of menorrhea before the age of 12 years, delayed childbearing and childbirth after the age of 30 years, nulliparity, and menopause after the age of 55 years [ 3 , 4 ]. Exposure to exogenous hormones as a contraceptive or hormone replacement for menopause is also a well-known pre-disposer to breast cancer [ 5 ].…”

Section: Breast Cancer Etiopathologymentioning

confidence: 99%

“…It is estimated that more than 90% of breast cancers are non-malignant at the time of early diagnosis; however, due to lymphatic and hematological systems, cancer tends to metastasize to other parts of the body over time [ 1 , 2 ]. Breast cancer is linked to several distinct life events, such as genetic mutations to the BRCA1 (breast cancer gene 1) and BRCA2 (breast cancer gene 2) genes, high breast density, family history of the disease, late full-term pregnancy, lack of physical activity, and smoking and alcohol consumption [ 3 , 4 ]. Another uncommon yet increasing form of breast cancer is inflammatory breast cancer, which accounts for 1% to 5% of all types of breast cancers, characterized by the warm, red, and swollen appearance of the breast [ 5 , 6 ].…”

Section: Introductionmentioning

confidence: 99%

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Photodynamic Therapy Induced Cell Death Mechanisms in Breast Cancer

Mokoena

George

Abrahamse

2021

IJMS

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Breast cancer is the second most common cancer globally and the pioneering cause of mortality among women. It usually begins from the ducts or lobules, referred to as ductal carcinoma in situ, or lobular carcinoma in situ. Age, mutations in Breast Cancer Gene 1 or 2 (BRCA1 or BRCA2) genes, and dense breast tissue are the highest risk factors. Current treatments are associated with various side effects, relapse, and a low quality of life. Although conventional treatments, such as surgery and chemotherapy, have been used for decades, their adverse side effects on normal cells and tissues pose a major weakness, which calls for a non-invasive treatment option. Photodynamic therapy (PDT) has proven to be a promising form of cancer therapy. It is less invasive, target-specific, and with reduced cytotoxicity to normal cells and tissues. It involves the use of a photosensitizer (PS) and light at a specific wavelength to produce reactive oxygen species. One of the reasons for the target specificity is associated with the dense vascularization of cancer tissues, which tends to increase the surface area for the PS uptake. Photosensitizers are light-sensitive molecules, which result in cancer cell destruction followed by light irradiation. Depending on the localization of the PS within the cancer cell, its destruction may be via apoptosis, necrosis, or autophagy. This review focuses on the breast cancer etiopathology and PDT-induced cell death mechanisms in breast cancer cells.

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“…Such modifiable factors include obesity, alcohol consumption, activity level, parity, breastfeeding, radiation therapy and use of hormone replacement therapy (HRT) (3). Non-modifiable factors include genetic mutations, family history of breast cancer, prior history of atypical lesions, as well as race and age (4,5).…”

Section: Introductionmentioning

confidence: 99%

The Value of Tyrer-Cuzick Versus Gail Risk Modeling in Predicting Benefit from Screening MRI in Breast Cancer

Sevdalis¹,

Deng²,

Bandyopadhyay³

et al. 2022

EJBH

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Objective: Breast cancer is the most commonly diagnosed malignancy in US women. Risk assessment tools such as the Gail and Tyrer-Cuzick (TC) models calculate risk for breast cancer based on modifiable and non-modifiable factors in order to guide screening and prevention for high-risk patients. Screening with magnetic resonance imaging (MRI) in addition to mammography is recommended in high-risk patients (>20% lifetime risk on TC or other familial based models). Currently, no published data indicate these recommendations improve cancer detection. Materials and Methods:With the aim to determine what percentage lifetime risk (LR%) is associated with a statistically significant increase in cancer detection, the Virginia Commonwealth University (VCU) breast imaging database was reviewed to identify patients who received screening MRI. Results:The receiver operating characteristics (ROC) curves for the Gail and TC models and the rate of cancer detection correlated to 20% LR% were calculated. The Gail model was considered the control model as it is NOT considered a validated screening tool for MRI. TC is not more accurate than Gail when predicting benefit of breast MRI screening. (area under the curve (AUC): 0.6841, 0.6543 respectively, p = 0.828). Univariate analysis failed to demonstrate a statistically significant relationship between the Gail or TC LR % and diagnosis of breast cancer when using 20% as the cutoff for high-risk classification (p = 1.0, 0.369 respectively). Neither the TC nor the Gail risk calculators demonstrated a significant correlation between risk and the likelihood of diagnosis of breast cancer when screened with MRI. Conclusion:Larger cohort studies are necessary to determine the risk percentage most predictive of a breast cancer diagnosis using MRI as screening.

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Gynecological–endocrinological aspects in women carriers of BRCA1/2 gene mutations

Cited by 14 publications

References 50 publications

Patient-Reported Outcome Measures may optimize shared decision-making for cancer risk management in BRCA mutation carriers

Patient-Reported Outcome Measures may optimize shared decision-making for cancer risk management in BRCA mutation carriers

Photodynamic Therapy Induced Cell Death Mechanisms in Breast Cancer

The Value of Tyrer-Cuzick Versus Gail Risk Modeling in Predicting Benefit from Screening MRI in Breast Cancer

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