BRCA Mutations and the Implications in Transgender Individuals Undergoing Top Surgery: An Operative Dilemma

Jaber, Camaleigh; Ralph, Oliver G.; Jahromi, Alireza Hamidian

doi:10.1097/gox.0000000000004012

Cited by 5 publications

(2 citation statements)

References 4 publications

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“…There is a dearth of data on the long-term effects of testosterone on breast cancer risk for transgender men. Additionally, there is the possibility of discrepancies between gender-affirming chest surgery and risk-reducing mastectomy that should be considered [ 118 , 119 ]. The amount of remaining breast tissue could impact screening and inform subsequent cancer risk.…”

Section: Gender Diverse Populationsmentioning

confidence: 99%

Gynecologic Care of Black Breast Cancer Survivors

Pleasant

2024

Curr Breast Cancer Rep

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Purpose of Review Black patients suffer from breast cancer-related racial health disparities, which could have implications on their gynecologic care. This review explores considerations in the gynecologic care of Black breast cancer survivors. Recent Findings Black people have a higher risk of leiomyoma and endometrial cancer, which could confound bleeding patterns such as in the setting of tamoxifen use. As Black people are more likely to have early-onset breast cancer, this may have implications on long-term bone and heart health. Black patients may be more likely to have menopausal symptoms at baseline and as a result of breast cancer treatment. Furthermore, Black patients are less likely to utilize assisted reproductive technology and genetic testing services. Summary It is important for healthcare providers to be well-versed in the intersections of breast cancer and gynecologic care. Black breast cancer survivors may have unique considerations for which practitioners should be knowledgeable.

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Section: Gender Diverse Populationsmentioning

confidence: 99%

Gynecologic Care of Black Breast Cancer Survivors

Pleasant

2024

Curr Breast Cancer Rep

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“…Regarding transgender men, gender-affirming hormone therapy with testosterone might alter the risk of BC in individuals with a hereditary susceptibility to BC, but data are still limited. Transgender men with a germline PV in a BC gene may want to consider risk-reducing mastectomy instead of gender-affirming breast surgery (top surgery), which typically retains some breast tissue and the nipple areolar complex [192]. For transgender men with a PV in a BC gene who have had top surgery, or no breast surgery, BC screening is recommended to begin at an earlier age and may include mammography and breast MRI.…”

Section: Brca1/ Brca2mentioning

confidence: 99%

Gender-Specific Genetic Predisposition to Breast Cancer: BRCA Genes and Beyond

Valentini,

Bucalo,

Conti

et al. 2024

Cancers

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Among neoplastic diseases, breast cancer (BC) is one of the most influenced by gender. Despite common misconceptions associating BC as a women-only disease, BC can also occur in men. Additionally, transgender individuals may also experience BC. Genetic risk factors play a relevant role in BC predisposition, with important implications in precision prevention and treatment. The genetic architecture of BC susceptibility is similar in women and men, with high-, moderate-, and low-penetrance risk variants; however, some sex-specific features have emerged. Inherited high-penetrance pathogenic variants (PVs) in BRCA1 and BRCA2 genes are the strongest BC genetic risk factor. BRCA1 and BRCA2 PVs are more commonly associated with increased risk of female and male BC, respectively. Notably, BRCA-associated BCs are characterized by sex-specific pathologic features. Recently, next-generation sequencing technologies have helped to provide more insights on the role of moderate-penetrance BC risk variants, particularly in PALB2, CHEK2, and ATM genes, while international collaborative genome-wide association studies have contributed evidence on common low-penetrance BC risk variants, on their combined effect in polygenic models, and on their role as risk modulators in BRCA1/2 PV carriers. Overall, all these studies suggested that the genetic basis of male BC, although similar, may differ from female BC. Evaluating the genetic component of male BC as a distinct entity from female BC is the first step to improve both personalized risk assessment and therapeutic choices of patients of both sexes in order to reach gender equality in BC care. In this review, we summarize the latest research in the field of BC genetic predisposition with a particular focus on similarities and differences in male and female BC, and we also discuss the implications, challenges, and open issues that surround the establishment of a gender-oriented clinical management for BC.

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