Hereditary Breast Cancer: Practical Pursuit for Clinical Translation

Lynch, Henry T.; Snyder, Carrie; Lynch, Jane F.

doi:10.1245/s10434-012-2256-z

Cited by 26 publications

(18 citation statements)

References 35 publications

Supporting

Mentioning

Contrasting

Order By: Relevance

“…BRCA (Breast Cancer Susceptibility Gene) is associated with the majority of hereditary BC, which accounts for about 5 to 10% of all cases of breast cancers (9). Meanwhile, the resemblance in clinical and pathologic features between sporadic triple-negative BC (TNBC) and BRCA1 mutant BC implies that mechanism behind BRCA germline mutant tumors is strongly associated with somatic mutation of sporadic BC (10).…”

Section: Introductionmentioning

confidence: 99%

Multicenter cross‑sectional screening of the BRCA gene for Chinese high hereditary risk breast cancer populations

et al. 2018

View full text Add to dashboard Cite

Abstract. Due to lack of systematic reviews, BRCA, DNA Repair Associated (BRCA) mutations in the Chinese population are not completely understood. The following study investigates the prevalence and type of BRCA mutations in Chinese patients with high hereditary risk of breast cancer (BC).Patients Drwere recruited from 14 cities between October 2015 and February 2016, and were selected based on family and personal medical history. BRCA mutations were analyzed by collecting blood samples from all participants. 437 BC patients were included. A total of seventy-six (17.4%) mutation carriers were identified with no geographic difference. The mutation rate in the early-onset BC patients was lower compared to family history of breast/ovarian cancer (OC), bilateral BC, male BC, BC&OC or meeting ≥2 criteria (9.2 vs. 21.7, 24.0, 22.2, 16.7 and 24.3%, respectively, P=0.007). A total of 61 mutation sites were identified (BRCA1 32, BRCA2 29) including 47.5% novel sites and extra 10 variants of uncertain significance. A total of five sites were repeated in more than one unrelated patient. A total of 11 sites were associated with hereditary breast and ovarian cancer syndrome, two of which were confirmed by family pedigrees. Compared with BRCA -patients, patients with BRCA1 mutation tended to be triple-negative BC (P<0.001), whereas patients with BRCA2 mutation were more likely to be hormone receptor positive

show abstract

Section: Introductionmentioning

confidence: 99%

Multicenter cross‑sectional screening of the BRCA gene for Chinese high hereditary risk breast cancer populations

et al. 2018

View full text Add to dashboard Cite

show abstract

“…Genetic research identified pathogenic mutations in BRCA1 and BRCA2 genes in 5-10% of hereditary breast cancer, and recent genetic discoveries showed more susceptible genes including TP53 mutations in Li-Fraumeni syndrome, STK11 mutations in Peutz-Jeghers syndrome, and PTEN mutations in Cowden syndrome [4]. Thus, an important proportion of the social and economic burden arising from breast cancer can be reduced and limited by implementing effective evidence-based strategies such as genetic counseling, risk management and surveillance, and early-stage tumor detection and management targeting women at moderate or high risk for breast cancer [5,6,7]. …”

Section: Introductionmentioning

confidence: 99%

Medical Genetic Counseling for Breast Cancer in Primary Care: A Synthesis of Major Determinants of Physicians' Practices in Primary Care Settings

Jbilou¹,

Halilem²,

Blouin-Bougie³

et al. 2014

Public Health Genomics

View full text Add to dashboard Cite

Objectives: This paper aims to identify relevant potential predictors of medical genetic counseling for breast cancer (MGC-BC) in primary care and to develop a comprehensive questionnaire to study MGC-BC. Methods: A scoping review was conducted to identify the predictors of MGC-BC among primary care physicians. Relevant articles were identified in selected databases (PubMed, Embase, CINAHL, ISI Web of Science, PsycINFO, and Cochrane CENTRAL) and 4 selected relevant electronic journals. Results: An inductive analysis of the 193 quantitatively tested variables, conducted by 3 researchers, showed that 6 conceptual categories of determinants, namely (1) demographic, (2) organizational, (3) experiential, (4) professional, (5) psychological, and (6) cognitive, influence MGC-BC practices. Conclusion: There is a scarcity of literature addressing the medical behavior determinants of MGC-BC. Future research is needed to identify effective strategies put into action to support the integration of MGC-BC in primary care medical practices and routines. However, our results shed light on 2 levels of actions that could improve genetic counseling services in primary care: (1) medical training and educational efforts emphasizing family history collection (individual level), and (2) clarification of roles and responsibilities in ordering and referral practices in genetic counseling and genetic testing for better healthcare management (organizational level).

show abstract

“…[4][5][6] With regard to cancer, a growing body of evidence supports the benefits of genetic risk assessment, genetic testing, and the efficacy of clinical management in those with certain hereditary syndromes. 2,7,8 Genetic counselling and risk assessment is the process of identifying and counselling individuals or families at increased risk of developing cancer, and distinguishing between those classified as having average, moderate and high risk. 2,6 The UK's National Institute for…”

mentioning

confidence: 99%

Exploring the cancer risk perception and interest in genetic services among Indigenous people in Queensland, Australia

Bernardes

Valery

Garvey

2014

Australian and New Zealand Journal of Public Health

View full text Add to dashboard Cite

Aust NZ J Public Health. 2014; 38:344-8; doi: 10.1111/1753 Abstract Objective: The purpose of this study is to explore the levels of interest among Indigenous people with cancer in identifying cancer risk in their family and seeking genetic counselling/ testing. Design and setting:A cross-sectional survey of Indigenous cancer patients recruited from four major treating hospitals in Queensland. Participants' family history of cancer and interest in genetic counselling/testing was sought using a structured questionnaire.Results: Overall, 73.0% of 252 participants reported having a family history of cancer; of those, 52.8% had at least one first-degree relative with cancer. A total of 68.3% of participants indicated concern about relatives being affected by cancer and 54.4% of participants indicated they would like to assess the cancer risk in their family with a specialist. Concern was associated with willingness to discuss the risk of cancer with a specialist (p<0.001).Conclusions: Indigenous cancer patients do have a family history of cancer and appear willing to undergo genetic counselling/investigation. It is of great concern that this population could miss the benefits of the technological advances in health care, creating a much larger disparity in health outcomes.Implications: Health service providers should not assume that Indigenous cancer patients will not follow their recommendations when referred to genetic counselling/investigation services.

show abstract

Hereditary Breast Cancer: Practical Pursuit for Clinical Translation

Cited by 26 publications

References 35 publications

Multicenter cross‑sectional screening of the BRCA gene for Chinese high hereditary risk breast cancer populations

Multicenter cross‑sectional screening of the BRCA gene for Chinese high hereditary risk breast cancer populations

Medical Genetic Counseling for Breast Cancer in Primary Care: A Synthesis of Major Determinants of Physicians' Practices in Primary Care Settings

Exploring the cancer risk perception and interest in genetic services among Indigenous people in Queensland, Australia

Contact Info

Product

Resources

About