Investigating barriers to genetic counseling and germline mutation testing in women with suspected hereditary breast and ovarian cancer syndrome and Lynch syndrome

2018 ◽  
Vol 101 (5) ◽  
pp. 938-944 ◽  
Author(s):  
Josephine Shaw ◽  
Caroline Bulsara ◽  
Paul A. Cohen ◽  
Madeleine Gryta ◽  
Cassandra B. Nichols ◽  
...  
Keyword(s):  
Ovarian Cancer ◽  
Genetic Counseling ◽  
Lynch Syndrome ◽  
Germline Mutation ◽  
Mutation Testing ◽  
Cancer Syndrome ◽  
Breast And Ovarian Cancer

scholarly journals Identifying Lynch Syndrome in Two Families with Classical Hereditary Breast and Ovarian Cancer Syndrome Phenotype: A Case Report

2018 ◽  
Vol 10 (9) ◽  
Author(s):  
Salha Bujassoum ◽  
Reem Alsulaiman ◽  
Hind Elmalik ◽  
Kulssom Junejo ◽  
Ahmed Mahfouz ◽  
...  
Keyword(s):  
Ovarian Cancer ◽  
Case Report ◽  
Lynch Syndrome ◽  
Cancer Syndrome ◽  
Breast And Ovarian Cancer

scholarly journals Pedigree and BRCA gene analysis in breast cancer patients to identify hereditary breast and ovarian cancer syndrome to prevent morbidity and mortality of disease in Indian population

Tumor Biology ◽  
2017 ◽  
Vol 39 (2) ◽  
pp. 101042831769430 ◽  
Author(s):  
Mina Darooei ◽  
Subhadra Poornima ◽  
Bibi Umae Salma ◽  
Gayatri R Iyer ◽  
Akhilesh N Pujar ◽  
...  
Keyword(s):  
Breast Cancer ◽  
Ovarian Cancer ◽  
Genetic Counseling ◽  
Cancer Patients ◽  
Pedigree Analysis ◽  
Care Hospital ◽  
Breast Cancer Patients ◽  
Cancer Syndrome ◽  
Breast And Ovarian Cancer ◽  
Targeted Mutation

Global burden of breast cancer is expected to increase to >2 million new cases every year by 2030 and 10% of these are likely to have hereditary breast and ovarian cancer syndrome. Identifying these individuals by pedigree and BRCA1/2 mutation analyses will enable us to offer targeted mutation testing and appropriate counseling. This study from a tertiary care hospital showed that of the 127 breast cancer patients on treatment during 2014–2015, 24 of them fulfilled the criteria of hereditary breast and ovarian cancer syndrome after detailed verbal autopsy and pedigree analysis, and BRCA1 and 2 next-generation sequencing done after pre-test counseling revealed mutations in 13 cases (54%), these included 9 BRCA1 mutations (69%) and 4 BRCA2 mutation (31%). Subsequent post-test counseling recommended targeted mutation analysis for 64 high-risk members in these 13 families with pathogenic mutations, which will help in surveillance for early detection, appropriate management, and prevention of the disease by decreasing the burden to both family and nation. Results from this preliminary study highlight the importance of genetic counseling, pedigree analysis, and genetic testing. It can be recommended that all oncology units should have a genetic counseling service for providing appropriate support to oncologists, patients, and families to prevent unnecessary testing; however, breast cancer screening program is incomplete without evaluating for hereditary breast and ovarian cancer syndrome.

scholarly journals Patient-Reported Outcomes following Genetic Testing for Familial Hypercholesterolemia, Breast and Ovarian Cancer Syndrome, and Lynch Syndrome: A Systematic Review

2021 ◽  
Vol 11 (9) ◽  
pp. 850
Author(s):  
Rachele M. Hendricks-Sturrup ◽  
Lucson Joseph ◽  
Christine Y. Lu
Keyword(s):  
Systematic Review ◽  
Ovarian Cancer ◽  
Genetic Testing ◽  
Lynch Syndrome ◽  
Real World ◽  
Patient Reported Outcomes ◽  
Clinical Intervention ◽  
Cancer Syndrome ◽  
Breast And Ovarian Cancer ◽  
Patient Reported

Background: Patient-reported outcomes (PROs) and PRO measures (PROMs) are real-world evidence that can help capture patient experiences and perspectives regarding a clinical intervention such as genetic testing. Objective: To identify and capture methods and qualitative PRO themes among studies reporting PROs following genetic testing for FH, breast and ovarian cancer syndrome, and Lynch syndrome. Methods: A systematic review was conducted via PubMed/MEDLINE, EMBASE, and Yale University’s TRIP Medical Databases on articles published by April 2021. Results: We identified 24 studies published between 1996 and 2021 representing 4279 participants that reported PROs following genetic testing for FH, breast and ovarian cancer syndrome, and Lynch syndrome. Studies collected and reported PROs from validated PROM instruments (n = 12; 50%), validated surveys (n = 7; 26%), and interviews (n = 10; 42%). PRO themes ranged across all collection methods (e.g., psychological, knowledge, coping and satisfaction, concern about stigma/discrimination, etc.). Conclusions: Important gaps identified include (1) most studies (n = 18; 75%) reported PROs following genetic testing for breast and ovarian cancer, and (2) populations reporting PROs overall were largely of White/Caucasian/Northern European/Anglo-Saxon descent. We offer recommendations and describe real-world implications for the field moving forward.

scholarly journals Factors associated with genetic testing distress in patients tested for Lynch Syndrome or Hereditary Breast and Ovarian Cancer Syndrome

2011 ◽  
Vol 9 (Suppl 1) ◽  
pp. P33
Author(s):  
Margery Rosenblatt ◽  
Monica Dandapani ◽  
Rowena Mercado ◽  
Judy E Garber ◽  
Sapna Syngal ◽  
...  
Keyword(s):  
Ovarian Cancer ◽  
Genetic Testing ◽  
Lynch Syndrome ◽  
Cancer Syndrome ◽  
Breast And Ovarian Cancer ◽  
Factors Associated
Sign in / Sign up

Export Citation Format

Share Document