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

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.

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A pilot study of knowledge and interest of genetic counseling and testing for hereditary breast and ovarian cancer syndrome among Puerto Rican women

Journal of Community Genetics ◽

10.1007/s12687-011-0058-9 ◽

2011 ◽

Vol 2 (4) ◽

pp. 211-221 ◽

Cited By ~ 13

Author(s):

Susan T. Vadaparampil ◽

Gwendolyn P. Quinn ◽

Julie Dutil ◽

Marieva Puig ◽

Teri L. Malo ◽

...

Keyword(s):

Ovarian Cancer ◽

Genetic Counseling ◽

Pilot Study ◽

Puerto Rican ◽

Cancer Syndrome ◽

Breast And Ovarian Cancer ◽

Puerto Rican Women ◽

Counseling And Testing

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A novel deleterious c.2656G>T MSH2 germline mutation in a Pakistani family with a phenotypic overlap of hereditary breast and ovarian cancer and Lynch syndrome

Hereditary Cancer in Clinical Practice ◽

10.1186/s13053-016-0056-3 ◽

2016 ◽

Vol 14 (1) ◽

Cited By ~ 4

Author(s):

Muhammad U. Rashid ◽

Humaira Naeemi ◽

Noor Muhammad ◽

Asif Loya ◽

Muhammed A. Yusuf ◽

...

Keyword(s):

Ovarian Cancer ◽

Lynch Syndrome ◽

Germline Mutation ◽

Pakistani Family ◽

Breast And Ovarian Cancer

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

Journal of Personalized Medicine ◽

10.3390/jpm11090850 ◽

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.

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