scholarly journals Medical knowledge and information needs among women with pathogenic variants in moderate‐risk genes for hereditary breast cancer attending genetic counseling at an academic hospital in Germany—A qualitative approach

2021 ◽  
Author(s):  
Claudia Stracke ◽  
Clarissa Lemmen ◽  
Kerstin Rhiem ◽  
Rita Schmutzler ◽  
Sibylle Kautz‐Freimuth ◽  
...  
Keyword(s):  
Breast Cancer ◽  
Genetic Counseling ◽  
Hereditary Breast Cancer ◽  
Information Needs ◽  
Medical Knowledge ◽  
Qualitative Approach ◽  
Academic Hospital ◽  
Moderate Risk ◽  
Risk Genes ◽  
Pathogenic Variants

scholarly journals Prevalence and Clinicopathological Characteristics of Moderate and High-Penetrance Genes in Non-BRCA1/2 Breast Cancer High-Risk Spanish Families

2021 ◽  
Vol 11 (6) ◽  
pp. 548
Author(s):  
Maria Fonfria ◽  
Inmaculada de Juan Jiménez ◽  
Isabel Tena ◽  
Isabel Chirivella ◽  
Paula Richart-Aznar ◽  
...  
Keyword(s):  
Breast Cancer ◽  
High Risk ◽  
Clinical Characteristics ◽  
Single Gene ◽  
Clinicopathological Characteristics ◽  
Loss Of Function ◽  
Moderate Risk ◽  
Risk Genes ◽  
Pathogenic Variants ◽  
Index Cases

(1) Background: Over the last decade, genetic counseling clinics have moved from single-gene sequencing to multigene panel sequencing. Multiple genes related to a moderate risk of breast cancer (BC) have emerged, although many questions remain regarding the risks and clinical features associated with these genes. (2) Methods: Ninety-six BC index cases (ICs) with high-risk features for hereditary breast and ovarian cancer (HBOC) and with a previous uninformative result for BRCA1/2 were tested with a panel of 41 genes associated with BC risk. The frequency of pathogenic variants (PVs) was related to the clinical characteristics of BC. (3) Results: We detected a PV rate of 13.5% (excluding two cases each of BRCA1 and MUTYH). Among the 95 assessed cases, 17 PVs were identified in 16 ICs, as follows: BRCA1 (n = 2), CHEK2 (n = 3), ATM (n = 5), MUTYH (n = 2), TP53 (n = 2), BRIP1 (n = 1), CASP8 (n = 1), and MSH2 (n = 1). We also identified a novel loss-of-function variant in CASP8, a candidate gene for increased BC risk. There was no evidence that the clinical characteristics of BC might be related to a higher chance of identifying a PV. (4) Conclusions: In our cohort, which was enriched with families with a high number of BC cases, a high proportion of mutations in ATM and CHEK2 were identified. The clinical characteristics of BC associated with moderate-risk genes were different from those related to BRCA1/2 genes.

An Update on DNA-Based BRCA1/BRCA2 Genetic Counseling in Hereditary Breast Cancer

1999 ◽  
Vol 109 (2) ◽  
pp. 91-98 ◽  
Author(s):  
Henry T Lynch ◽  
Patrice Watson ◽  
Susan Tinley ◽  
Carrie Snyder ◽  
Carolyn Durham ◽  
...  
Keyword(s):  
Breast Cancer ◽  
Genetic Counseling ◽  
Hereditary Breast Cancer ◽  
Brca1 Brca2

Information needs about hereditary breast cancer among women with early-onset breast cancer

2003 ◽  
Vol 27 (5) ◽  
pp. 345-352 ◽  
Author(s):  
Wendy F Cohn ◽  
Mary E Ropka ◽  
Susan M Jones ◽  
Susan Miesfeldt
Keyword(s):  
Breast Cancer ◽  
Early Onset ◽  
Hereditary Breast Cancer ◽  
Information Needs ◽  
Early Onset Breast Cancer

scholarly journals Cancer-related worry and risk perception in Brazilian individuals seeking genetic counseling for hereditary breast cancer

2020 ◽  
Vol 43 (2) ◽  
Author(s):  
Edenir Inêz Palmero ◽  
Natalia Campacci ◽  
Lavinia Schüler-Faccini ◽  
Roberto Giugliani ◽  
José Claudio Casali da Rocha ◽  
...  
Keyword(s):  
Breast Cancer ◽  
Genetic Counseling ◽  
Risk Perception ◽  
Hereditary Breast Cancer

scholarly journals Long-Term Evaluation of Women Referred to a Breast Cancer Family History Clinic (Manchester UK 1987–2020)

Cancers ◽  
2020 ◽  
Vol 12 (12) ◽  
pp. 3697
Author(s):  
Anthony Howell ◽  
Ashu Gandhi ◽  
Sacha Howell ◽  
Mary Wilson ◽  
Anthony Maxwell ◽  
...  
Keyword(s):  
Breast Cancer ◽  
Family History ◽  
Gene Families ◽  
Mammographic Screening ◽  
Good Prognosis ◽  
Lifetime Risk ◽  
Breast Cancers ◽  
Moderate Risk ◽  
Brca1 And Brca2 ◽  
Pathogenic Variants

Clinics for women concerned about their family history of breast cancer are widely established. A Family History Clinic was set-up in Manchester, UK, in 1987 in a Breast Unit serving a population of 1.8 million. In this review, we report the outcome of risk assessment, screening and prevention strategies in the clinic and propose future approaches. Between 1987–2020, 14,311 women were referred, of whom 6.4% were from known gene families, 38.2% were at high risk (≥30% lifetime risk), 37.7% at moderate risk (17–29%), and 17.7% at an average/population risk who were discharged. A total of 4168 (29.1%) women were eligible for genetic testing and 736 carried pathogenic variants, predominantly in BRCA1 and BRCA2 but also other genes (5.1% of direct referrals). All women at high or moderate risk were offered annual mammographic screening between ages 30 and 40 years old: 646 cancers were detected in women at high and moderate risk (5.5%) with a detection rate of 5 per 1000 screens. Incident breast cancers were largely of good prognosis and resulted in a predicted survival advantage. All high/moderate-risk women were offered lifestyle prevention advice and 14–27% entered various lifestyle studies. From 1992–2003, women were offered entry into IBIS-I (tamoxifen) and IBIS-II (anastrozole) trials (12.5% of invitees joined). The NICE guidelines ratified the use of tamoxifen and raloxifene (2013) and subsequently anastrozole (2017) for prevention; 10.8% women took up the offer of such treatment between 2013–2020. Since 1994, 7164 eligible women at ≥25% lifetime risk of breast cancer were offered a discussion of risk-reducing breast surgery and 451 (6.2%) had surgery. New approaches in all aspects of the service are needed to build on these results.

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