Identification of women at risk of hereditary breast –ovarian cancer among participants in a population-based breast cancer screening

AbstractWomen attending mammography screening may benefit from family history (FH) assessment for the identification of Hereditary Breast Ovarian Cancer (HBOC). Few studies explored the efficacy of tailored educational interventions in driving the attention on FH-associated risk among these women. To compare the efficacy of two educational tools in increasing attention towards FH, 6.802 women with a negative mammography were randomized to receive a note on FH of breast/ovarian cancer (letter A, n  = 3.402) or a note with details on possible implication of FH patterns (letter B, n = 3.200). Upon women’s request, a brief questionnaire was administered on phone at the Screening Unit (S.U.) to select those eligible for an in-depth FH evaluation at the Genetic Unit (G.U.). Each affected relative was scored 1–3 according to type of cancer, age at diagnosis, gender, position in the family tree. In all, 401 women contacted the S.U.: 244 (6.6%) in group A and 177 (5.2%) in group B (adjOR 1.27; 95%CI 1.03–1.56). FH scored ≥ 3 for 164 women: 177 (47.5%) in group B and 224 (35. 7%) in group A, (adjOR 1.59, 95%CI 1.06–2.38). The G.U. traced and interviewed 148 women, 65 (43.9%) were offered an in-person consultation: 38 attended and 30 were eligible for testing. A test was performed for 24 women: no BRCA pathogenic variant was found. Among mammographic screening attendees , educational material with a simple description ...
Source: Familial Cancer - Category: Cancer & Oncology Source Type: research

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CONCLUSIONS: Ten percent of women developed BC after EOC. The incidence of BC following EOC in BRCA carriers increases over time, and surveillance is recommended given their enhanced survival of EOC. Timely genetic testing for women with EOC is imperative to better triage BC screening resources and treatment.PMID:34862065 | DOI:10.1016/j.ygyno.2021.10.077
Source: Gynecologic Oncology - Category: Cancer & Oncology Authors: Source Type: research
When Heather Mann learned she had breast cancer, it was a complete surprise. “I had never thought that I was at high risk for breast cancer,” the 49-year-old says. “I don’t have any family lineage or history of breast cancer. My grandmother on my father’s side had breast cancer, but apparently that’s not usually a significant factor. So I was very surprised when I found out that I had a malignant tumor.” Shelia Bauer ‘s breast cancer journey took a very different route. After her twin sisters died of the disease in their 50s, Bauer, now 73, assumed that she likely carried som...
Source: TIME: Health - Category: Consumer Health News Authors: Tags: Uncategorized Cancer healthscienceclimate Source Type: news
CONCLUSION: Although BRCA1/2 gene tests have been substantially expanded, the uptake of post-test risk management strategies, including breast cancer screening for BRCA1/2-mutated patients and cascade testing for family members, has remained low. Strategies to increase its uptake and education about the importance of post-test risk managements are needed.PMID:34609091 | PMC:PMC8490789 | DOI:10.3346/jkms.2021.36.e241
Source: Journal of Korean Medical Science - Category: Biomedical Science Authors: Source Type: research
Eur J Med Genet. 2021 Oct 1:104350. doi: 10.1016/j.ejmg.2021.104350. Online ahead of print.ABSTRACTHereditary breast and ovarian cancer (HBOC) is a syndrome defined by an increased risk of developing breast and/or ovarian cancer most commonly due to germline disease-causing variants in the BRCA1 and BRCA2 genes, but also other causative genes such as PALB2, ATM and CHEK2. As genetic testing becomes more prevalent and new clinical data emerge, updates of national guidelines are required to incorporate these advances in our knowledge. The aim of this work is to review the guidelines for HBOC genetic testing and clinical surv...
Source: European Journal of Medical Genetics - Category: Genetics & Stem Cells Authors: Source Type: research
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