An overview of genetic services delivery for hereditary breast cancer

Reid, Sonya; Spalluto, Lucy B.; Lang, K.; Weidner, Anne; Pal, Tuya

doi:10.1007/s10549-021-06478-z

Cited by 15 publications

(10 citation statements)

References 80 publications

(106 reference statements)

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“…27 Genetic counselors have proven to be an integral part of care for these patients, yet there is already a national shortage of counselors in the midst of increasing demand. 26 Genetic professionals are sparse amongst rural populations, which has resulted in many tests being ordered without genetic consultation. 28 More attention is needed in expanding access to this resource for patients seen across all practice settings.…”

Section: Discussionmentioning

confidence: 99%

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Pivotal Role of Genetic Counselors in the Uptake of Germline Genetic Testing in Non-Metastatic Breast Cancer and the Impact of Testing on Surgical Decision Making

Erali

et al. 2023

The American Surgeon™

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Background Genetic testing is increasingly utilized in breast cancer patients; however, testing rates remain low. We aimed to evaluate the rate of genetic testing at a tertiary academic medical center utilizing a multidisciplinary clinic model including genetic counselor. Methods A single-center retrospective chart review was performed on a cohort of newly diagnosed breast cancer patients from January 2018 through February 2019. Patients were reviewed for genetic screening eligibility, consultation with a genetic counselor, and test results. Results Final analysis included 426 patients. 261 (61.3%) were found to meet National Comprehensive Cancer Network guidelines for genetic testing, of which 178 patient (68.2%) underwent testing and 32 patients (12.3%) declined testing. Of the 165 not eligible for testing, 5 patients were tested. A total of 183 patients underwent testing and 116 (63.4%) had a negative result, 17 (9.3%) were positive for at least one gene mutation and 50 (27.3%) were identified to have a variant of unknown significance (VUS). There was a positive association between those patients who met with a genetic counselor and eligibility for testing (OR 31.1, 95% CI 16.0-60.5). Conclusions Genetic testing result has become an increasingly important factor when defining optimal surgical treatment for breast cancer patients. Increasing the availability of genetic consultation for breast cancer patients can improve testing rates and patient selection.

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Section: Discussionmentioning

confidence: 99%

“…Studies have demonstrated higher genetic testing rates amongst patients who are referred for consultation with a genetic counselor. 25,26 On-site genetic counselors were likely a primary reason why our institutional testing rate was nearly 70%. These results merely highlight the importance of access to genetic counselors.…”

Section: Discussionmentioning

confidence: 99%

Pivotal Role of Genetic Counselors in the Uptake of Germline Genetic Testing in Non-Metastatic Breast Cancer and the Impact of Testing on Surgical Decision Making

Erali

et al. 2023

The American Surgeon™

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“…However, the development of cancer genetic counseling in China is in its beginning. Unlike some developed countries where specialized and certified genetics health professionals are available ( 92 ), cancer genetic counseling relies heavily on clinicians. Setting up standardized workflows and training eligible counselors is pivotal for promoting genetic counseling in China.…”

Section: Genetic Counseling For Brca Mutation Carr...mentioning

confidence: 99%

Overview on population screening for carriers with germline BRCA mutation in China

Lei

Zhang²,

Zhang³

et al. 2022

Front. Oncol.

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Carriers with BRCA1/2 germline pathogenic variants are associated with a high risk of breast and ovarian cancers (also pancreatic and prostate cancers). While the spectrum on germline BRCA mutations among the Chinese population shows ethnic specificity, the identification of carriers with germline BRCA mutation before cancer onset is the most effective approach to protect them. This review focused on the current status of BRCA1/2 screening, the surveillance and prevention measures, and discussed the issues and potential impact of BRCA1/2 population screening in China. We conducted literature research on databases PubMed and Google Scholar, as well as Chinese databases CNKI and Wangfang Med Online database (up to 31 March 2022). Latest publications on germline BRCA1/2 prevalence, spectrum, genetic screening as well as carrier counseling, surveillance and prevention were captured where available. While overall 15,256 records were retrieved, 72 publications using germline BRCA1/2 testing were finally retained for further analyses. Germline BRCA1/2 mutations are common in Chinese patients with hereditary breast, ovarian, prostate and pancreatic cancers. Within previous studies, a unique BRCA mutation spectrum in China was revealed. Next-generation sequencing panel was considered as the most common method for BRCA1/2 screening. Regular surveillance and preventive surgeries were tailored to carriers with mutated-BRCA1/2. We recommend that all Chinese diagnosed with breast, ovarian, pancreatic or prostate cancers and also healthy family members, shall undergo BRCA1/2 gene test to provide risk assessment. Subsequently, timely preventive measures for mutation carriers are recommended after authentic genetic counseling.

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“…Over 2 million new cases were diagnosed in 2018, accounting for almost 25% of cancer cases among women. Although hereditary and genetic factors account for 5-10% of BC cases [3], nonhereditary factors are more commonly involved in geographical and ethnic differences in incidence [4]. The relationship of BC with thyroid disease (TD) has been widely investigated.…”

Section: Introductionmentioning

confidence: 99%

Insinuation of Extrapolative Factors of Diagnostic Importance in Breast Cancer Patients Experiencing Thyroid Dysfunction

Malik¹,

Arooj²,

Waquar³

et al. 2022

PJMHS

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Background: Breast cancer (BC) is the most common malignancy in women and now regarded as the commonest cancer overall. Over 2 million new cases were diagnosed in 2018, accounting for almost 25% of cancer cases among women. The main objective of the study is to find the insinuation of extrapolative factors of diagnostic importance in breast cancer patients experiencing thyroid dysfunction. Materials and methods: This correlational study was conducted on Jinnah Hospital patients with the permission of ethical committee of the hospital and consent of the patients. The data was collected from 88 cases and 50 controls. All the patients who had a definite diagnosis of BC along with, hyperthyroidism, hypothyroidism, autoimmune thyroid disease (AITD), or thyroid cancer were included in this study. The study population was divided into three comparative groups: (1) controls (n = 50), (2) BC cases with hypothyroidism (n = 27), and (3) BC cases with hyperthyroidism (n = 61). Results: The mean age was 47.325±4.59 years for controls, 51.59±8.59 years for the hypothyroid cases, and 50.59±5.58 years for the hyperthyroid cases. The mean systolic blood pressure (SBP) for controls, hypothyroid and hyperthyroid was 121.25±6.58 mmHg, 98.259±8.59 mmHg and 129.65±7.59 mmHg respectively. The P-values less than 0.05 were considered to be significant (table 01). The demographic and hematological data of control, hypothyroid and hyperthyroid groups was tabulated. A positive correlation of breast cancer in women with hyperthyroidism and a slightly negative correlation in women with hypothyroidism was found. Conclusion: There appears to be an association between the thyroid function level and breast cancer risk. It can be extrapolated that anxiety associated with hyperthyroidism may play a role in stress induced BC. Therefore, thyroid function should be monitored in patients at risk of BC. Keyword: Breast cancer, Thyroid, Dysfunction, Hypothyroidism, Hyperthyroidism, Anxiety.

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An overview of genetic services delivery for hereditary breast cancer

Cited by 15 publications

References 80 publications

Pivotal Role of Genetic Counselors in the Uptake of Germline Genetic Testing in Non-Metastatic Breast Cancer and the Impact of Testing on Surgical Decision Making

Pivotal Role of Genetic Counselors in the Uptake of Germline Genetic Testing in Non-Metastatic Breast Cancer and the Impact of Testing on Surgical Decision Making

Overview on population screening for carriers with germline BRCA mutation in China

Insinuation of Extrapolative Factors of Diagnostic Importance in Breast Cancer Patients Experiencing Thyroid Dysfunction

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