Association of Rare Pathogenic DNA Variants for Familial Hypercholesterolemia, Hereditary Breast and Ovarian Cancer Syndrome, and Lynch Syndrome With Disease Risk in Adults According to Family History

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

Hereditary Cancer in Clinical Practice ◽

10.1186/1897-4287-9-s1-p33 ◽

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

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

Patient Education and Counseling ◽

10.1016/j.pec.2017.12.011 ◽

2018 ◽

Vol 101 (5) ◽

pp. 938-944 ◽

Cited By ~ 10

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

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Risk factors for lymph node metastasis of ovarian, fallopian tube and primary peritoneal cancer in hereditary breast and ovarian cancer syndrome

Japanese Journal of Clinical Oncology ◽

10.1093/jjco/hyaa124 ◽

2020 ◽

Vol 50 (12) ◽

pp. 1380-1385

Author(s):

Takashi Mitamura ◽

Masayuki Sekine ◽

Masami Arai ◽

Yuka Shibata ◽

Momoko Kato ◽

...

Keyword(s):

Ovarian Cancer ◽

Lymph Node ◽

Family History ◽

Lymph Node Metastasis ◽

Cancer Syndrome ◽

Breast And Ovarian Cancer ◽

Brca1 And Brca2 ◽

Node Metastasis ◽

Increased Risk ◽

History Of

Abstract Background To establish an individualized surgical strategy for lymphadenectomy in ovarian cancer patients with the germline BRCA1 and BRCA2 pathogenic variants (BRCA1+ and BRCA2+), we investigated the clinicopathological characteristics that are involved in the increased risk of lymph node metastasis. Methods We retrospectively reviewed the data of Japanese women registered in the database of the Japanese Hereditary Breast and Ovarian Cancer Consortium, who underwent BRCA1 and BRCA2 genetic testing. Results We evaluated the predictors of lymph node metastasis in all patients with the information of age at the diagnosis, disease site, histological subtype, 2014 FIGO stage, personal breast cancer history and family history; 233, 153 and 32 patients in the BRCA− (no pathogenic variant), BRCA1+ and BRCA2+ groups, respectively. The prevalence of lymph node metastasis was not markedly different between BRCA− (20.0%), BRCA1+ (18.4%) and BRCA2+ (26.2%). Multivariate analysis revealed an absence of a family history of ovarian cancer as an independent predictor for an increased risk of lymph node metastasis in BRCA1+, and the prevalence of lymph node metastasis was 11.7 and 42.0% in the groups with and without a family history of ovarian cancer, respectively. This subgroup without a family history of ovarian cancer did not show any correlation with a particular variant of BRCA1, including two common variants of c.188 T > A and c.2800C > T. Conclusions This study suggested that certain genetic factors related to the penetrance of hereditary breast and ovarian cancer syndrome altered the frequency of lymph node metastasis in BRCA1+ ovarian cancer, and family history may be useful to personalize the indication of lymphadenectomy.

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Cascade Testing in Families With Newly Diagnosed Hereditary Breast and Ovarian Cancer Syndrome

Case Medical Research ◽

10.31525/ct1-nct04009148 ◽

2019 ◽

Author(s):

Keyword(s):

Ovarian Cancer ◽

Newly Diagnosed ◽

Cancer Syndrome ◽

Breast And Ovarian Cancer ◽

Cascade Testing

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Consensus Recommendations of the German Consortium for Hereditary Breast and Ovarian Cancer

Breast Care ◽

10.1159/000516376 ◽

2021 ◽

pp. 1-9

Author(s):

Kerstin Rhiem ◽

Bernd Auber ◽

Susanne Briest ◽

Nicola Dikow ◽

Nina Ditsch ◽

...

Keyword(s):

Ovarian Cancer ◽

Disease Risk ◽

Interdisciplinary Team ◽

Individual Risk ◽

Patient Counseling ◽

Consensus Process ◽

Breast And Ovarian Cancer ◽

Risk Genes ◽

Therapeutic Measures ◽

Individual Disease

Background: The German Consortium for Hereditary Breast and Ovarian Cancer (GC-HBOC) has established a multigene panel (TruRisk®) for the analysis of risk genes for familial breast and ovarian cancer. Summary: An interdisciplinary team of experts from the GC-HBOC has evaluated the available data on risk modification in the presence of pathogenic mutations in these genes based on a structured literature search and through a formal consensus process. Key Messages: The goal of this work is to better assess individual disease risk and, on this basis, to derive clinical recommendations for patient counseling and care at the centers of the GC-HBOC from the initial consultation prior to genetic testing to the use of individual risk-adapted preventive/therapeutic measures.

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