Automatic Breast Cancer Cohort Detection from Social Media for Studying Factors Affecting Patient-Centered Outcomes

Medical genetic services are facing an unprecedented demand for counseling and testing for hereditary breast and ovarian cancer (HBOC) in a context of limited resources. To help resolve this issue, a collaborative oncogenetic model was recently developed and implemented at the CHU de Québec-Université Laval; Quebec; Canada. Here, we present the protocol of the C-MOnGene (Collaborative Model in OncoGenetics) study, funded to examine the context in which the model was implemented and document the lessons that can be learned to optimize the delivery of oncogenetic services. Within three years of implementation, the model allowed researchers to double the annual number of patients seen in genetic counseling. The average number of days between genetic counseling and disclosure of test results significantly decreased. Group counseling sessions improved participants’ understanding of breast cancer risk and increased knowledge of breast cancer and genetics and a large majority of them reported to be overwhelmingly satisfied with the process. These quality and performance indicators suggest this oncogenetic model offers a flexible, patient-centered and efficient genetic counseling and testing for HBOC. By identifying the critical facilitating factors and barriers, our study will provide an evidence base for organizations interested in transitioning to an oncogenetic model integrated into oncology care; including teams that are not specialized but are trained in genetics.

Download Full-text

Prevalence and reclassification of BRCA1 and BRCA2 variants in a large, unselected Chinese Han breast cancer cohort

Journal of Hematology & Oncology ◽

10.1186/s13045-020-01010-0 ◽

2021 ◽

Vol 14 (1) ◽

Author(s):

Yun Liu ◽

Honglian Wang ◽

Xin Wang ◽

Jiaqi Liu ◽

Junjian Li ◽

...

Keyword(s):

Breast Cancer ◽

Risk Assessment ◽

Chinese Population ◽

Functional Assay ◽

Healthy Controls ◽

Brca1 And Brca2 ◽

Chinese Han ◽

Pathogenic Variants ◽

Breast Cancer Cohort ◽

Invasive Carcinomas

AbstractAccurate interpretation of BRCA1/2 variants is critical for risk assessment and precise treatment of breast cancer (BC). Hence, the establishment of an ethnicity-based BRCA1/2 variant database of the Chinese population is of paramount importance. In this study, panel-based sequencing served to detect BRCA1/2 variants in a Chinese multicenter cohort of 21,216 BC patients and 6434 healthy controls. Overall, the percentage of subjects carrying pathogenic variants was 5.5% (1174/21,216) in BC patients and 1.1% (71/6434) in healthy controls. We identified 13 pathogenic variants as high-frequency variants that had a frequency of > 0.45‰ in BC patients (≥ 10 in 21,216 patients), none of which has been reported in Caucasians. Pathogenic BRCA1/2 variants correlated with younger onset age, higher frequencies of bilateral and triple-negative BC (TNBC), invasive carcinomas, high histological grades, and family history of BC and other cancers. Furthermore, the percentage of the subjects carrying VUS was 9.8% (2071/21,216) in BC patients and 6.9% (446/6434) in healthy controls. Based on our cohort study, we unambiguously reclassified 7 out of the 858 VUS resulting in lower VUS ratio in patients (from 9.8 to 7.9%) as well as in healthy control (from 6.9 to 5.3%). We also re-analyzed the 100 variants in 13 exons (2–5 and 15–23) of the BRCA1 genes using a functional assay (saturation genome editing; SGE). 55 of the 59 VUS had distinct status in the SGE study: 24 (43.6%) were pathogenic, and 31 (56.4%) were benign. Strong ethnicity-specific occurrences of pathogenic BRCA1/2 variants were identified in the Chinese population. Hence, the findings provide rationale and sequencing information for the implementation of BRCA1/2 variants tailored to the Chinese population into clinical risk assessment.

Download Full-text

125TiP SGNTUC-019: Phase II basket study of tucatinib and trastuzumab in previously treated solid tumours with HER2 alterations: HER2-mutated breast cancer cohort

Annals of Oncology ◽

10.1016/j.annonc.2021.03.139 ◽

2021 ◽

Vol 32 ◽

pp. S74-S75

Author(s):

A. Okines ◽

V. Kang ◽

L.N. Walker ◽

P.R. Pohlmann

Keyword(s):

Breast Cancer ◽

Phase Ii ◽

Solid Tumours ◽

Breast Cancer Cohort ◽

Previously Treated

Download Full-text

Factors affecting breast cancer patients' need for genetic risk information: From information insufficiency to information need

Journal of Genetic Counseling ◽

10.1002/jgc4.1087 ◽

2019 ◽

Vol 28 (3) ◽

pp. 543-557 ◽

Cited By ~ 2

Author(s):

Soo Jung Hong ◽

Barbara Biesecker ◽

Jennifer Ivanovich ◽

Melody Goodman ◽

Kimberly A. Kaphingst

Keyword(s):

Breast Cancer ◽

Cancer Patients ◽

Genetic Risk ◽

Risk Information ◽

Breast Cancer Patients ◽

Information Need ◽

Factors Affecting ◽

Genetic Risk Information

Download Full-text

Quality of life in breast cancer sufferers

International Journal of Health Care Quality Assurance ◽

10.1108/ijhcqa-05-2015-0057 ◽

2016 ◽

Vol 29 (7) ◽

pp. 721-732 ◽

Cited By ~ 1

Author(s):

Ahmed Essmat Shouman ◽

Nahla Fawzy Abou El Ezz ◽

Nivine Gado ◽

Amal Mahmoud Ibrahim Goda

Keyword(s):

Breast Cancer ◽

Quality Of Life ◽

Family Income ◽

Early Stage ◽

Functional Domain ◽

Related Factors ◽

Specific Patient ◽

Content Type ◽

Factors Affecting

Purpose – The purpose of this paper is to measure health-related quality of life (QOL) among patients with early stage cancer breast under curative treatment at department of oncology and nuclear medicine at Ain Shams University Hospitals. Identify factors affecting QOL among these patients. Design/methodology/approach – A cross-sectional study measured QOL among early stage female breast cancer (BC) patients and determined the main factors affecting their QOL. Three interviewer administered questionnaires were used. Findings – The physical domain mostly affected in BC patients and the functional domain least. Socio-demographic factors that significantly affected BC patients QOL scores were patient age, education, having children and family income. Specific patient characteristics include caregiver presence – a factor that affected different QOL scores. Age at diagnosis, affection in the side of the predominant hand, post-operative chemotherapy and difficulty in obtaining the medication were the disease-related factors that affected QOL scores. Originality/value – The final model predicting QOL for early stage female BC patients included age, education and difficulty in obtaining the medication as determinants for total QOL score. Carer presence was the specific patient characteristic that affected different QOL scores.

Download Full-text