scholarly journals BRCA Previvors: Medical and Social Factors That Differentiate Them From Previvors With Other Hereditary Cancers

2018 ◽  
Vol 6 ◽  
Author(s):  
Lisa Campo-Engelstein

In this paper, I outline some of the reasons why BRCA “previvors” (i.e., “survivors of a predisposition to cancer”) are different from previvors with other hereditary cancers. I examine how the absence of a standard of care for breast cancer risk for women with a BRCA mutation, coupled with a broad range of genetic penetrance and lower mortality, makes BRCA different than other hereditary cancers that have clear and established guidelines. In addition to these medical differences, social factors like the cultural prominence of breast cancer and the social significance of breasts have engendered a more complicated individual previvor identity for and cultural response to women with a BRCA mutation.

2017 ◽  
Vol 35 (15_suppl) ◽  
pp. e13048-e13048
Author(s):  
Ava Hosseini ◽  
Laura Esserman ◽  
Anne M. Wallace ◽  
Amal Khoury ◽  
Alfred Au ◽  
...  

e13048 Background: Although pathogenic mutations in the BRCA gene are known to confer a high risk of breast cancer, close to 65% of mutation carriers do not opt for prophylactic mastectomy. These women are managed with intense screening, which does not aid in prevention. Breast reduction mammoplasty is a surgical technique shown to reduce breast cancer risk (0.39-0.61 relative risk reduction), and can be modified to target specific areas of the breast. Given that most sporadic breast cancers involve the upper outer quadrant, we wondered if a majority of tumors in BRCA mutation carriers would also be confined to one quadrant, or if they would be equally distributed throughout the breast given the high baseline risk present. Identifying a particularly high risk area of the breast could potentially allow for the use of targeted cosmetic mammoplasty as a novel method of risk reduction. Methods: We reviewed imaging reports on 103 consecutive patients with BRCA mutations and invasive breast cancer, and categorized tumor location by quadrant. Tumors spanning > 1 quadrant were classified as being in both. Bilateral cancers were counted separately. Categorical variables were compared with the chi-squared test. Results: Mean age at breast cancer diagnosis was 44 years. Mean tumor size was 2.2 cm (0.1-7cm) with mean distance from the nipple of 4.8 cm (1-12 cm). 92% of tumors were invasive ductal carcinoma, 46% were hormone receptor positive, 10% Her2 positive, and 44% triple negative. 70% of the tumors were unicentric. Tumors were significantly more likely to be in the upper outer quadrant (54%, with the other quadrants having 11-17% of tumors respectively) whether or not multicentric tumors were included in the analysis (p < 0.00001). Her2 positive tumors were more likely to be multicentric than other subtypes (p = 0.021). Conclusions: More than half of breast cancers in BRCA mutation carriers form in the upper outer quadrant, suggesting that breast reduction mammoplasty targeting removal of the upper outer quadrant could significantly reduce breast cancer risk. For those women who choose not to have prophylactic mastectomies or are not yet ready, these data support an intermediate step to help decrease breast cancer risk, which warrants further study.


Author(s):  
Tamar Perri ◽  
Shani Naor-Revel ◽  
Perry Eliassi-Revivo ◽  
Dror Lifshitz ◽  
Eitan Friedman ◽  
...  

2008 ◽  
Vol 32 (2) ◽  
pp. 140-143 ◽  
Author(s):  
Giovanna De Vecchi ◽  
Paolo Verderio ◽  
Sara Pizzamiglio ◽  
Siranoush Manoukian ◽  
Loris Bernard ◽  
...  

Cancers ◽  
2021 ◽  
Vol 13 (13) ◽  
pp. 3251
Author(s):  
Gina Reye ◽  
Xuan Huang ◽  
Kara L. Britt ◽  
Christoph Meinert ◽  
Tony Blick ◽  
...  

High mammographic density (MD) increases breast cancer (BC) risk and creates a stiff tissue environment. BC risk is also increased in BRCA1/2 gene mutation carriers, which may be in part due to genetic disruption of the tumour suppressor gene Ras association domain family member 1 (RASSF1A), a gene that is also directly regulated by tissue stiffness. High MD combined with BRCA1/2 mutations further increase breast cancer risk, yet BRCA1/2 mutations alone or in combination do not increase MD. The molecular basis for this additive effect therefore remains unclear. We studied the interplay between MD, stiffness, and BRCA1/2 mutation status in human mammary tissue obtained after prophylactic mastectomy from women at risk of developing BC. Our results demonstrate that RASSF1A expression increased in MCF10DCIS.com cell cultures with matrix stiffness up until ranges corresponding with BiRADs 4 stiffnesses (~16 kPa), but decreased in higher stiffnesses approaching malignancy levels (>50 kPa). Similarly, higher RASSF1A protein was seen in these cells when co-cultivated with high MD tissue in murine biochambers. Conversely, local stiffness, as measured by collagen I versus III abundance, repressed RASSF1A protein expression in BRCA1, but not BRCA2 gene mutated tissues; regional density as measured radiographically repressed RASSF1A in both BRCA1/2 mutated tissues. The combinatory effect of high MD and BRCA mutations on breast cancer risk may be due to RASSF1A gene repression in regions of increased tissue stiffness.


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