Breast and Ovarian Cancer Screening Practices in Healthy Women with a Strong Family History of Breast or Ovarian Cancer

2002 ◽  
Vol 71 (2) ◽  
pp. 103-112 ◽  
Author(s):  
Claudine Isaacs ◽  
Beth N. Peshkin ◽  
Marc Schwartz ◽  
Tiffani A. DeMarco ◽  
David Main ◽  
...  
2017 ◽  
Vol 24 (6) ◽  
pp. 352 ◽  
Author(s):  
S. Guedaoura ◽  
S. Pelletier ◽  
W.D. Foulkes ◽  
P. Hamet ◽  
J. Simard ◽  
...  

Background In families with a proven BRCA1/2 mutation, women not carrying the familial mutation should follow the cancer screening recommendations applying to women in the general population. In the present study, we evaluated the cancer screening practices of unaffected noncarriers from families with a proven BRCA mutation, and we assessed the role of family history in their screening practices.Methods Self-report data were provided retrospectively by 220 unaffected female noncarriers for periods of up to 10 years (mean: 4.3 years) since disclosure of their BRCA1/2 genetic test result. A ratio for the annual frequency of breast and ovarian cancer screening exams (mammography, breast ultrasonography, breast magnetic resonance imaging, transvaginal or pelvic ultrasound, cancer antigen 125 testing) was calculated as number of screening exams divided by the number of years in the individual observation period.Results The annual average for mammography exams was 0.15, 0.4, 0.56, and 0.71 in women 30–39, 40–49, 50–59, and 60–69 years of age respectively. The uptake of other breast and ovarian cancer screening exams was very low. Mammography and breast ultrasonography and magnetic resonance imaging were generally more frequent among participants with at least 1 first-degree relative affected by breast cancer.Conclusions In most noncarriers, screening practices are consistent with the guidelines concerning women in the general population. When noncarriers adopt screening behaviours that are different from those that would be expected for average-risk women, those behaviours are influenced by their familial cancer history.Impact Decision tools might help female noncarriers to be involved in their follow-up in accordance with their genetic status and their family history, while taking into account the benefits and disadvantages of cancer screening.


2013 ◽  
Vol 12 (4) ◽  
pp. 587-595 ◽  
Author(s):  
Zhi L. Teo ◽  
Sarah D. Sawyer ◽  
Paul A. James ◽  
Gillian Mitchell ◽  
Alison H. Trainer ◽  
...  

2006 ◽  
Vol 108 (5) ◽  
pp. 1176-1184 ◽  
Author(s):  
James V. Lacey ◽  
Mark H. Greene ◽  
Saundra S. Buys ◽  
Douglas Reding ◽  
Thomas L. Riley ◽  
...  

2021 ◽  
Vol 22 (2) ◽  
pp. 889
Author(s):  
Ava Kwong ◽  
Cecilia Y. S. Ho ◽  
Vivian Y. Shin ◽  
Chun Hang Au ◽  
Tsun Leung Chan ◽  
...  

The germline carrier of the BRCA1 pathogenic mutation has been well proven to confer an increased risk of breast and ovarian cancer. Despite BRCA1 biallelic pathogenic mutations being extremely rare, they have been reported to be embryonically lethal or to cause Fanconi anemia (FA). Here we describe a patient who was a 48-year-old female identified with biallelic pathogenic mutations of the BRCA1 gene, with no or very subtle FA-features. She was diagnosed with ovarian cancer and breast cancer at the ages of 43 and 44 and had a strong family history of breast and gynecological cancers.


2010 ◽  
Vol 124 (3) ◽  
pp. 857-861 ◽  
Author(s):  
Yonglan Zheng ◽  
Jing Zhang ◽  
Kisha Hope ◽  
Qun Niu ◽  
Dezheng Huo ◽  
...  

2020 ◽  
Author(s):  
Urška Kotnik ◽  
Borut Peterlin ◽  
Luca Lovrecic

Abstract Background: An important number of breast and ovarian cancer cases is due to a strong genetic predisposition. The main tool for identifying individuals at risk is recognizing a suggestive family history of cancer. We present a prospective study on applying three selected clinical guidelines to a cohort of 1000 Slovenian women to determine the prevalence of at-risk women according to each of the guidelines and analyze the differences amongst the guidelines.Methods: Personal and family history of cancer was collected for 1000 Slovenian women. Guidelines by three organizations: National Comprehensive Cancer Network (NCCN), American College of Medical Genetics in cooperation with National Society of Genetic Counselors (ACMG/NSGC), and Society of Gynecologic Oncology (SGO) were applied to the cohort. The number of women identified, the characteristics of the high-risk population, and the agreement between the guidelines were explored. Results: NCCN guidelines identify 16.7 % of women, ACMG/NSGC guidelines identify 7.1 % of women, and SGO guidelines identify 7.0 % of women from the Slovenian population, while 6.2 % of women are identified by all three guidelines as having high-risk for hereditary breast and ovarian cancer.Conclusions: We identified 17.4 % of women from the Slovenian population as being at an increased risk for breast and ovarian cancer based on their personal and family history of cancer using all of the guidelines. There are important differences between the guidelines. NCCN guidelines are the most inclusive, identifying more than twice the amount of women as high-risk for hereditary breast and ovarian cancer as compared to the AGMG/NSCG and SGO guidelines in the Slovenian population.


2015 ◽  
Vol 18 (6) ◽  
pp. 627-634 ◽  
Author(s):  
Sylvie Pelletier ◽  
Nora Wong ◽  
Zaki El Haffaf ◽  
William D. Foulkes ◽  
Jocelyne Chiquette ◽  
...  

SpringerPlus ◽  
2014 ◽  
Vol 3 (1) ◽  
pp. 727 ◽  
Author(s):  
Kristin Anderson ◽  
Patricia A Thompson ◽  
Betsy C Wertheim ◽  
Lorena Martin ◽  
Ian K Komenaka ◽  
...  

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