Symptoma

Hereditary Breast Cancer

Familial Breast Cancer

A family is presented in whom hereditary angioedema (HAE) and hereditary breast cancer were coexistent, an association not previously reported. A potential for genetic and treatment-related interactions between the two conditions exists. [ncbi.nlm.nih.gov]

  • Goiter

    The following case study describes the assessment process for a less common genetic disorder known as Cowden syndrome, or multiple hamartoma syndrome, a hereditary cancer syndrome associated with early-onset breast cancer, thyroid cancer, goiters, enlarged [ncbi.nlm.nih.gov]

  • Angioedema

    A family is presented in whom hereditary angioedema (HAE) and hereditary breast cancer were coexistent, an association not previously reported. A potential for genetic and treatment-related interactions between the two conditions exists. [ncbi.nlm.nih.gov]

    Duponchel C, Di RC, Cicardi M, Tosi M : Rapid detection by fluorescent multiplex PCR of exon deletions and duplications in the C1 inhibitor gene of hereditary angioedema patients. Hum Mutat 2001; 17 : 61–70. 9. [nature.com]

  • Grieving

    Analysis revealed that women describe their own identity based on their family story and grieve over actual and potential familial loss. [ncbi.nlm.nih.gov]

  • Lymphocytic Infiltrate

    The lymphocytic infiltrate was predominantly T-cell type. [ncbi.nlm.nih.gov]

    Multivariate analysis has shown that features predictive of BRCA1 phenotype include pushing margins, lymphocytic infiltrate and high mitotic counts, but not the medullary phenotype per se ; hence BRCA1 tumours are high-grade, medullary-like cancers. [nature.com]

    noninfiltrating, smooth edges), and a lymphocytic infiltrate, whereas tumors with BRCA2 mutations are heterogeneous, are often relatively high grade, and display substantially less tubule formation. [nejm.org]

    Pathology Initial reports of BRCA1 -linked cases confirmed an excess of cancers with medullary features, lymphocytic infiltration, 31 and syncytial growth patterns. [jco.ascopubs.org]

    When only IDC cases are compared, after excluding medullary carcinomas, BRCA1 tumours have more frequently a prominent lymphocytic infiltrate and pushing margins [ 11 ], some of the features that define the medullary histotype. [hccpjournal.biomedcentral.com]

[…] and therefore appropriate treatment. [ncbi.nlm.nih.gov]

UAB is an active participant in research and clinical trials for the diagnosis and treatment of hereditary breast ovarian cancer sydrome. [uabmedicine.org]

At present, the mutation spectrum for these susceptibility genes is not well understood in the Chinese population, and there are few reports on prognosis and clinical intervention in high-risk populations. [ncbi.nlm.nih.gov]

Identification of inherited genetic variations influencing prognosis in early-onset breast cancer. CANCER RES. 2013;73(6):1883-91. Upstill-Goddard R, Eccles D, Ennis S, Rafiq S, Tapper W, Fliege J, et al. [southampton.ac.uk]

Though another 20-30% has a familial presentation, the genetic and other etiologies are still not well understood. Genetic testing is now widely available and multiple professional societies have published guidelines for testing and management. [ncbi.nlm.nih.gov]

Yiannakopoulou E (2014) Etiology of familial breast cancer with undetected BRCA1 and BRCA2 mutations: clinical implications. Cellular Oncology (Dordrecht) 37: 1–8. [els.net]

Karin B Michels, associate professor 1 Obstetrics and Gynecology Epidemiology Center, Department of Obstetrics, Gynecology and Reproductive Biology, Brigham and Women’s Hospital, Harvard Medical School, Boston, MA, USA kmichels{at}research.bwh.harvard.edu [bmj.com]

Although the clinical significance of those newly identified low-penetrance gene mutations has not been fully appreciated yet, these new findings do provide valuable epidemiological information for the future studies. [ncbi.nlm.nih.gov]

Genomics and Genetic Disorders Section Lifecourse Epidemiology and Genomics Division P.O. Box 30195 333 S. [michigan.gov]

As it is, there is insufficient epidemiological data on Japanese patients, Nakamura said. [japantimes.co.jp]

International journal of epidemiology. 2017;46(6):1814-22. Candido Dos Reis FJ, Wishart GC, Dicks EM, Greenberg D, Rashbass J, Schmidt MK, et al. [southampton.ac.uk]

Clinical Information Discusses physiology, pathophysiology, and general clinical aspects, as they relate to a laboratory test Hereditary breast cancer susceptibility is associated with germline mutations in several genes including BRCA1, BRCA2, and others [mayomedicallaboratories.com]

Appropriately directed DNA testing based on these initial steps provides an opportunity for clinical translation into a cancer prevention program targeted to family members. [ncbi.nlm.nih.gov]

Screening family members for known familial genetic variants gives those who test positive the opportunity to make informed decisions on prevention strategies. For those who test negative, the results can bring peace of mind. [invitae.com]