Genes, Vol. 12, Pages 1483: The Importance of Extended Analysis Using Current Molecular Genetic Methods Based on the Example of a Cohort of 228 Patients with Hereditary Breast and Ovarian Cancer Syndrome

Genes, Vol. 12, Pages 1483: The Importance of Extended Analysis Using Current Molecular Genetic Methods Based on the Example of a Cohort of 228 Patients with Hereditary Breast and Ovarian Cancer Syndrome Genes doi: 10.3390/genes12101483 Authors: Luise D. Resch Alrun Hotz Andreas D. Zimmer Katalin Komlosi Nina Singh Andreas Tzschach Marisa Windfuhr-Blum Ingolf Juhasz-Boess Thalia Erbes Judith Fischer Svenja Alter In about 20–30% of all women with breast cancer, an increased number of cases of breast cancer can be observed in their family history. However, currently, only 5–10% of all breast cancer cases can be attributed to a pathogenic gene alteration. Molecular genetic diagnostics underwent enormous development within the last 10 years. Next-generation sequencing approaches allow increasingly extensive analyses resulting in the identification of additional candidate genes. In the present work, the germline molecular diagnostic analysis of a cohort of 228 patients with suspected hereditary breast and ovarian cancer syndrome (HBOC) was evaluated. The 27 pathogenic gene variants initially detected are listed, and their distribution in the high-risk BRCA1 and BRCA2 genes is presented in this study. In ten high-risk patients, in whom, to date, no pathogenic variant could be detected, an extended genetic analysis of previously not considered risk genes was performed. Three variants of uncertain significance and one pathogenic variant could b...
Source: Genes - Category: Genetics & Stem Cells Authors: Tags: Communication Source Type: research

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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 ...
Source: Familial Cancer - Category: Cancer & Oncology 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
Conclusions: Since ovarian and uterine cancers are the less prevalent disease in comparison with breast cancer, the preciseness of these estimates were improved remarkably over simple mapping models. Based on this model, the estimates were done according to the correlation between the diseases. After recognizing the spatial patterns of the shared and specific risk factors and reviewing of previous studies, regardless of risk factors data, environmental pollution arises as a potential risk factor.
Source: International Journal of Preventive Medicine - Category: International Medicine & Public Health Source Type: research
JCO Oncol Pract. 2021 Oct 12:OP2100482. doi: 10.1200/OP.21.00482. Online ahead of print.ABSTRACTRecent epidemiologic data show an increasing incidence of breast cancer among premenopausal women in many higher-income countries. Among premenopausal women, those diagnosed under age 40 years experience inferior long-term outcomes, particularly in the setting of hormone receptor-positive, human epidermal growth factor receptor 2-negative disease. In addition to more advanced disease presentation and/or less favorable disease biology, suboptimal adjuvant endocrine therapy (ET) has emerged as an important driver of this age-relat...
Source: Ann Oncol - Category: Cancer & Oncology Authors: Source Type: research
CONCLUSION: Young BRCA1m carriers seem to have lower AMH level compared with wild type women and therefore a potential decreased ovarian reserve.PMID:34627117 | DOI:10.1016/j.breast.2021.09.006
Source: Breast - Category: Cancer & Oncology Authors: Source Type: research
Conclusions: Visceral adiposity seems to be a driver of elevated ovarian cancer risk, particularly of the endometrioid and clear cell ovarian cancer histotypes. General adiposity decreases the risk of breast cancer but increases the risk of endometrial and ovarian cancer.
Source: Cancers - Category: Cancer & Oncology Authors: Tags: Article Source Type: research
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
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