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Inheritance and Risk Factors suggestive of a genetic contribution to both breast cancer and gynecologic cancer include 1 an increased incidence of these cancers among individuals with a family history of these cancers; 2 Checkpoint computer comparison cis 105 family members affected with these and other cancers; and 3 a pattern of cancers compatible with autosomal dominant inheritance.
Both males and females can inherit and transmit an autosomal dominant cancer predisposition gene. Associated Genes and Syndromes Breast and ovarian cancer are present in several autosomal dominant cancer syndromes, although they are most strongly associated with highly penetrant germline pathogenic variants in BRCA1 and BRCA2.
Colorectal cancer and, to a lesser extent, ovarian cancer and stomach cancer is also associated with Lynch syndrome. Genome-wide searches are showing promise in identifying common, low-penetrance susceptibility alleles for many complex diseases, including breast and gynecologic cancers, but the clinical utility of these findings remains uncertain.
Clinical Management Breast cancer screening strategies, including breast magnetic resonance imaging and mammography, are commonly performed in carriers of BRCA pathogenic variants and in individuals at increased risk of breast cancer. Initiation of screening is generally recommended at earlier ages and at more frequent intervals in individuals with an increased risk due to genetics and family history than in the general population.
There is evidence to demonstrate that these strategies have utility in early detection of cancer. In contrast, there is currently no evidence to demonstrate that gynecologic cancer screening using cancer antigen testing and transvaginal ultrasound leads to early detection of cancer.
Chemoprevention strategiesincluding the use of tamoxifen and oral contraceptives, have also been examined in this population. Tamoxifen use has been shown to reduce the risk of contralateral breast cancer among carriers of BRCA1 and BRCA2 pathogenic variants after treatment for breast cancer, but there are limited data in the primary cancer prevention setting to suggest that it reduces the risk of breast cancer among healthy female carriers of BRCA2 pathogenic variants.
The use of oral contraceptives has been associated with a protective effect on the risk of developing ovarian cancer, including in carriers of BRCA1 and BRCA2 pathogenic variants, with no association of increased risk of breast cancer when using formulations developed after Psychosocial and Behavioral Issues Psychosocial factors influence decisions about genetic testing for inherited cancer risk and risk-management strategies.
Uptake of genetic testing varies widely across studies. Psychological factors that have been associated with testing uptake include cancer-specific distress and perceived risk of developing breast or ovarian cancer.
Studies have shown low levels of distress after genetic testing for both carriers and noncarriers, particularly in the longer term.
Uptake of RRM and RRSO also varies across studies, and may be influenced by factors such as cancer history, age, family history, recommendations of the health care provider, and pretreatment genetic education and counseling.
Research is ongoing to better understand and address psychosocial and behavioral issues in high-risk families. Introduction General Information [Note: When a linked term is clicked, the definition will appear in a separate window.
A concerted effort is being made within the genetics community to shift terminology used to describe genetic variation.
Variants can then be further classified as benign harmlesslikely benign, of uncertain significance, likely pathogenic, or pathogenic disease causing. Throughout this summary, we will use the term pathogenic variant to describe a disease-causing mutation.
Refer to the Cancer Genetics Overview summary for more information about variant classification. Inan estimatednew cases of breast cancer including 2, cases in men will be diagnosed, and 41, deaths including deaths in men will occur.
Ovarian cancer is the fifth most deadly cancer in women. Formal studies of families linkage analysis have subsequently proven the existence of autosomal dominant predispositions to breast and ovarian cancer and have led to the identification of several highly penetrant genes as the cause of inherited cancer risk in many families.
It is likely that other genetic factors contribute to the etiology of some of these cancers. Age The cumulative risk of breast cancer increases with age, with most breast cancers occurring after age 50 years.
The hazard ratio HR for women with a single breast cancer in the family was 1. For women who had multiple breast cancers in the family, with one occurring before age 40 years, the HR was 3.IT Week 2 Individual: Compare Different Unified Communication Platforms Based on your Week Two Learning Team Collaborative discussion, submit, individually, a comparison of the different kinds of unified communication platforms, their features and functionality, based on the five criteria.
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