The NCCN Guidelines for Genetic/Familial High-Risk Assessment: Breast, Ovarian, and Pancreatic focus primarily on assessment of pathogenic or likely pathogenic variants associated with increased risk of breast, ovarian, and pancreatic cancer and recommended approaches to genetic testing/counseling and management strategies in individuals with these pathogenic or likely pathogenic variants. This manuscript focuses on cancer risk and risk management for BRCA-related breast/ovarian cancer syndrome and Li-Fraumeni syndrome. Carriers of a BRCA1/2 pathogenic or likely pathogenic variant have an excessive risk for both breast and ovarian cancer that warrants consideration of more intensive screening and preventive strategies. There is also evidence that risks of prostate cancer and pancreatic cancer are elevated in these carriers. Li-Fraumeni syndrome is a highly penetrant cancer syndrome associated with a high lifetime risk for cancer, including soft tissue sarcomas, osteosarcomas, premenopausal breast cancer, colon cancer, gastric cancer, adrenocortical carcinoma, and brain tumors.

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Genetic/familial high-risk assessment: Breast, ovarian, and pancreatic, version 2.2021

Abstract Background: Transgender healthcare is a rapidly evolving interdisciplinary field. In the last decade, there has been an unprecedented increase in the number and visibility of transgender and gender diverse (TGD) people seeking support and gender-affirming medical treatment in parallel with a significant rise in the scientific literature in this area. The World Professional Association for Transgender Health (WPATH) is an international, multidisciplinary, professional association whose mission is to promote evidence-based care, education, research, public policy, and respect in transgender health. One of the main functions of WPATH is to promote the highest standards of health care for TGD people through the Standards of Care (SOC). The SOC was initially developed in 1979 and the last version (SOC-7) was published in 2012. In view of the increasing scientific evidence, WPATH commissioned a new version of the Standards of Care, the SOC-8. Aim: The overall goal of SOC-8 is to provide health care professionals (HCPs) with clinical guidance to assist TGD people in accessing safe and effective pathways to achieving lasting personal comfort with their gendered selves with the aim of optimizing their overall physical health, psychological well-being, and self-fulfillment. Methods: The SOC-8 is based on the best available science and expert professional consensus in transgender health. International professionals and stakeholders were selected to serve on the SOC-8 committee. Recommendation statements were developed based on data derived from independent systematic literature reviews, where available, background reviews and expert opinions. Grading of recommendations was based on the available evidence supporting interventions, a discussion of risks and harms, as well as the feasibility and acceptability within different contexts and country settings. Results: A total of 18 chapters were developed as part of the SOC-8. They contain recommendations for health care professionals who provide care and treatment for TGD people. Each of the recommendations is followed by explanatory text with relevant references. General areas related to transgender health are covered in the chapters Terminology, Global Applicability, Population Estimates, and Education. The chapters developed for the diverse population of TGD people include Assessment of Adults, Adolescents, Children, Nonbinary, Eunuchs, and Intersex Individuals, and people living in Institutional Environments. Finally, the chapters related to gender-affirming treatment are Hormone Therapy, Surgery and Postoperative Care, Voice and Communication, Primary Care, Reproductive Health, Sexual Health, and Mental Health. Conclusions: The SOC-8 guidelines are intended to be flexible to meet the diverse health care needs of TGD people globally. While adaptable, they offer standards for promoting optimal health care and guidance for the treatment of people experiencing gender incongruence. As in all previous versions of the SOC, the criteria set forth in this document for gender-affirming medical interventions are clinical guidelines; individual health care professionals and programs may modify these in consultation with the TGD person.

Standards of Care for the Health of Transgender and Gender Diverse People, Version 8

Among U.S. men, prostate cancer is the second leading cause of cancer-related death (1). Past studies documented decreasing incidence of prostate cancer overall since 2000 but increasing incidence of distant stage prostate cancer (i.e., signifying spread to parts of the body remote from the primary tumor) starting in 2010 (2,3). Past studies described disparities in prostate cancer survival by stage, age, and race/ethnicity using data covering ≤80% of the U.S. population (4,5). To provide recent data on incidence and survival of prostate cancer in the United States, CDC analyzed data from population-based cancer registries that contribute to U.S. Cancer Statistics (USCS).* Among 3.1 million new cases of prostate cancer recorded during 2003-2017, localized, regional, distant, and unknown stage prostate cancer accounted for 77%, 11%, 5%, and 7% of cases, respectively, but the incidence of distant stage prostate cancer significantly increased during 2010-2017. During 2001-2016, 10-year relative survival for localized stage prostate cancer was 100%. Overall, 5-year survival for distant stage prostate cancer improved from 28.7% during 2001-2005 to 32.3% during 2011-2016; for the period 2001-2016, 5-year survival was highest among Asian/Pacific Islanders (API) (42.0%), followed by Hispanics (37.2%), American Indian/Alaska Natives (AI/AN) (32.2%), Black men (31.6%), and White men (29.1%). Understanding incidence and survival differences by stage, race/ethnicity, and age can guide public health planning related to screening, treatment, and survivor care. Future research into differences by stage, race/ethnicity, and age could inform interventions aimed at improving disparities in outcomes.

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Prostate Cancer Incidence and Survival, by Stage and Race/Ethnicity - United States, 2001-2017.

Objective To investigate the incidence and characteristics of breast cancer in transgender people in the Netherlands compared with the general Dutch population. Design Retrospective, nationwide cohort study. Setting Specialised tertiary gender clinic in Amsterdam, the Netherlands. Participants 2260 adult trans women (male sex assigned at birth, female gender identity) and 1229 adult trans men (female sex assigned at birth, male gender identity) who received gender affirming hormone treatment. Main outcome measures Incidence and characteristics (eg, histology, hormone receptor status) of breast cancer in transgender people. Results The total person time in this cohort was 33 991 years for trans women and 14 883 years for trans men. In the 2260 trans women in the cohort, 15 cases of invasive breast cancer were identified (median duration of hormone treatment 18 years, range 7-37 years). This was 46-fold higher than in cisgender men (standardised incidence ratio 46.7, 95% confidence interval 27.2 to 75.4) but lower than in cisgender women (0.3, 0.2 to 0.4). Most tumours were of ductal origin and oestrogen and progesterone receptor positive, and 8.3% were human epidermal growth factor 2 (HER2) positive. In 1229 trans men, four cases of invasive breast cancer were identified (median duration of hormone treatment 15 years, range 2-17 years). This was lower than expected compared with cisgender women (standardised incidence ratio 0.2, 95% confidence interval 0.1 to 0.5). Conclusions This study showed an increased risk of breast cancer in trans women compared with cisgender men, and a lower risk in trans men compared with cisgender women. In trans women, the risk of breast cancer increased during a relatively short duration of hormone treatment and the characteristics of the breast cancer resembled a more female pattern. These results suggest that breast cancer screening guidelines for cisgender people are sufficient for transgender people using hormone treatment.

https://www.bmj.com/content/bmj/365/bmj.l1652.full.pdf

Breast cancer risk in transgender people receiving hormone treatment: nationwide cohort study in the Netherlands

Transgender people comprise a diverse group of individuals whose gender identity or expression differs from that originally assigned to them at birth. Some, but not all, transgender people elect to undergo medical gender affirmation, which may include therapy with cross-sex hormones and/or surgical change of the genitalia and other sex characteristics. As cross-sex hormones administered for the purposes of gender affirmation may be delivered at high doses and over a period of decades, the carcinogenicity of hormonal therapy in transgender people is an area of considerable concern. In addition, concerns about cancer risk in transgender patients have been linked to sexually transmitted infections, increased exposure to well-known risk factors such as smoking and alcohol use, and the lack of adequate access to screening. Several publications have identified cancer as an important priority in transgender health research and called for large-scale studies. The goals of this article are to summarize the evidence on factors that may differentially affect cancer risk in transgender people, assess the relevant cancer surveillance and epidemiologic data available to date, and offer an overview of possible methodological considerations for future studies investigating cancer incidence and mortality in this population.

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Cancer in Transgender People: Evidence and Methodological Considerations.

This review will inform radiologists about the evidence base regarding radiographic imaging for transgender individuals and considerations for providing culturally sensitive care for this population. Transgender individuals are increasingly referred for both screening and diagnostic breast imaging. It is important that the clinic environment is welcoming, the medical staff utilize accepted terminology and patients are able to designate their gender and personal history to ensure appropriate care. Hormone and surgical treatments used for transition by many transgender women and men may change the approach to imaging. Although not yet evidence-based, screening mammography is currently suggested for transgender women with risk factors, including those receiving hormone treatment over 5 years. The risk for breast cancer in transgender individuals is still being defined.

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Breast Imaging of Transgender Individuals: A Review

OBJECTIVE. The purposes of this article are to describe two cases of breast cancer in male-to-female transsexuals and to review eight cases previously reported in the literature. CONCLUSION. Breast cancer occurs in male-to-female transsexuals who receive high doses of exogenous estrogen and develop breast tissue histologically identical to that of a biologically female breast. This exposure to estrogen results in increased risk of breast cancer. The first patient described is a male-to-female transsexual with screening-detected ductal carcinoma in situ and a family history of breast cancer. The other patient is a male-to-female transsexual with invasive ductal carcinoma that was occult on diagnostic digital mammographic and ultrasound findings but visualized on digital breast tomosynthesis and breast MR images. The analysis of the eight previously reported cases showed that breast cancer in male-to-female transsexuals occurs at a younger age and is more frequently estrogen receptor negative than breast ca...

https://www.ajronline.org/doi/pdf/10.2214/AJR.14.12723

Breast Cancer in Male-to-Female Transsexuals: Use of Breast Imaging for Detection

Objectives. To study factors that predict changes in management with digital breast tomosynthesis (DBT). Methods. The Institutional Review Board approved this HIPAA compliant study. 996 patients had DBT with full field digital mammography (FFDM). Univariate analysis evaluated predictors of management change and cancer detection. Results. DBT changed management in 109 of 996 (11%); 77 (71%) required less imaging. Recalled patients after abnormal FFDM screen were most likely to have management change—25% (24 of 97 patients) compared to 8% (13/163) of symptomatic patients and 10% (72/736) of screening patients (P < 0.001). Dense breasted patients had a higher likelihood of having DBT change management: 13% (68/526) compared to 9% (41/470) (P = 0.03). Of the 996 patients, 19 (2%) were diagnosed with breast cancer. 15 cancers (83%) were seen on FFDM and DBT; 3 (17%) were diagnosed after DBT (0.3%, 95%CI: 0.1–0.9%). One recurrence was in the skin and was not seen on DBT nor was it seen on FFDM. The increase in cancer detection rate was 17% for asymptomatic patients, 0% for symptomatic patients, and 100% for recalled patients. Conclusions. DBT increased cancer detection rate by 20% and decreased the recall rate in 8–25%. Advances in Knowledge. DBT led to a doubling of the cancer detection rate in recalled patients.

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Digital Breast Tomosynthesis Changes Management in Patients Seen at a Tertiary Care Breast Center

OBJECTIVE. The purpose of this study was to determine whether additional breast imaging is clinically valuable in the evaluation of patients with gynecomastia incidentally observed on CT of the chest. MATERIALS AND METHODS. In a retrospective analysis, 62 men were identified who had a mammographic diagnosis of gynecomastia and had also undergone CT within 8 months (median, 2 months). We compared the imaging findings of both modalities and correlated them with the clinical outcome. RESULTS. Gynecomastia was statistically significantly larger on mammograms than on CT images; however, there was a high level of concordance in morphologic features and distribution of gynecomastia between mammography and CT. In only one case was gynecomastia evident on mammographic but not CT images, owing to cachexia. Two of the 62 men had ductal carcinoma, which was obscured by gynecomastia. Both of these patients had symptoms suggesting malignancy. CONCLUSION. The appearance of gynecomastia on CT scans and mammograms was hig...

Emily B. Sonnenblick

Papers

Breast Imaging of Transgender Individuals: A Review

Breast Cancer in Male-to-Female Transsexuals: Use of Breast Imaging for Detection

Digital Breast Tomosynthesis Changes Management in Patients Seen at a Tertiary Care Breast Center

Incremental Role of Mammography in the Evaluation of Gynecomastia in Men Who Have Undergone Chest CT

Cellular fibroadenoma on Core needle biopsy: management recommendations for the radiologist.