Impact of changing guidelines on genetic testing and surveillance recommendations in a contemporary cohort of breast cancer survivors with family history of pancreatic cancer

Wang, Annie; Everett, Jessica N.; Chun, Jennifer; Cen, Cindy; Simeone, Diane M.; Schnabel, Freya

doi:10.1038/s41598-021-91971-0

Cited by 4 publications

(3 citation statements)

References 49 publications

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“…The size of the genetic panels used for cancer patients’ evaluation has progressively increased in recent years [ 50 ]. Consequently, the findings derived from these expanded panels are still in the preliminary stages, and it is impossible to directly compare the new data with previous results from shorter panels.…”

Section: Discussionmentioning

confidence: 99%

Digenic Inheritance of Mutations in Homologous Recombination Genes in Cancer Patients

Freire,

Martin,

Segers

et al. 2024

JPM

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Background/Objectives: BRCA1, BRCA2, ATM, and CHEK2 are known cancer predisposition genes (CPGs), but tumor risk in patients with simultaneous pathogenic variants (PVs) in CPGs remains largely unknown. In this study, we describe six patients from five families with multiple cancers who coinherited a combination of PVs in these genes. Methods: PVs were identified using NGS DNA sequencing and were confirmed by Sanger. Results: Families 1, 2, and 3 presented PVs in BRCA2 and ATM, family 4 in BRCA2 and BRCA1, and family 5 in BRCA2 and CHEK2. PVs were identified using NGS DNA sequencing and were confirmed by Sanger. The first family included patients with kidney, prostate, and breast cancer, in addition to pancreatic adenocarcinomas. In the second family, a female had breast cancer, while a male from the third family had prostate, gastric, and pancreatic cancer. The fourth family included a male with pancreatic cancer, and the fifth family a female with breast cancer. Conclusions: The early age of diagnosis and the development of multiple cancers in the reported patients indicate a very high risk of cancer in double-heterozygous patients associated with PVs in HR-related CPGs. Therefore, in families with patients who differ from other family members in terms of phenotype, age of diagnosis, or type of cancer, the cascade testing needs to include the study of other CPGs.

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Section: Discussionmentioning

confidence: 99%

Digenic Inheritance of Mutations in Homologous Recombination Genes in Cancer Patients

Freire,

Martin,

Segers

et al. 2024

JPM

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“…Genetic diagnostics is also widely used in oncology, as it allows diagnosis of hereditary cancer syndromes (e.g., breast and/or ovarian cancer), precise diagnosis of the tumor (molecular classification of tumors, e.g., brain gliomas), determining the patient’s susceptibility to targeted treatment (use of optimally acting drugs in patients with a specific mutation in cancer cells; predictive tests), and establishing the prognosis of the disease (prognostic tests) (Kilbride and Bradbury 2020 ; Wang et al 2021 ; Mandrell et al 2021 ).…”

Section: Genetic Counseling and Tests For Medical Purposesmentioning

confidence: 99%

Genetic testing—whether to allow complete freedom? Direct to consumer tests versus genetic tests for medical purposes

2021

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Direct-to-consumer tests opened the opportunity of genetic testing without medical supervision, e.g., without medical referral and medical interpretation of the results. Thus, these approaches allow for free access to information concerning individual genetic profile increasing the area of personal freedom, but also posing the risk of false (positive and negative) or misinterpreted results along with health and psychological negative consequences. The paper discusses medical and non-medical applications of DTC, exploring also the legal framework implemented by European states and organizations. These legal acts strive to control the developing DTC market through such basic principles as patient protection, informed consent, medical information confidentiality, and the rights to know and to refuse knowledge about one’s genetic predispositions.

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“…4 Additionally, variation in testing criteria guidelines, especially as these change over time, and guidelines failing to capture all affected patients exacerbate difficulties for health care providers to identify patients to refer for adequate care. [5][6][7][8][9][10][11] Unfortunately, historically underserved populations tend to fare worse. Several studies have shown that racial and ethnic minorities are less likely to receive referrals, undergo genetic counseling, and ultimately receive genetic testing.…”

Section: Introductionmentioning

confidence: 99%

Hereditary Cancer Screening and Outcomes at an Urban Safety-Net Hospital

Brehany,

Colton,

Duarte

et al. 2024

JCO Precis Oncol

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PURPOSE Patients with hereditary cancer syndromes (HCS) have a high lifetime risk of developing cancer. Historically underserved populations have lower rates of genetic evaluation. We sought to characterize demographic factors that are associated with undergoing HCS evaluation in an urban safety-net patient population. METHODS All patients who met inclusion criteria for this study from 2016 to 2021 at an urban safety-net hospital were included in this analysis. Inclusion criteria were pathologically confirmed breast, ovarian/fallopian tube, colon, pancreatic, and prostate cancers. Patients also qualified for hereditary breast and ovarian cancers or Lynch syndrome on the basis of National Comprehensive Cancer Network guidelines. Institutional review board approval was obtained. Demographic and oncologic data were collected through retrospective chart review. Univariable and multivariable logistic regression models were constructed. RESULTS Of the 637 patients included, 40% underwent genetic testing. Variables associated with receiving genetic testing on univariable analysis included patients living at the time of data collection, female sex, Latinx ethnicity, Spanish language, family history of cancer, and referral for genetic testing. Patients identifying as Black, having Medicare, having pancreatic or prostate cancer, having stage IV disease, having Eastern Cooperative Oncology Group (ECOG) prognostic score ≥1, having medium or high Charlson comorbidity index, with current or previous cigarette use, and with previous alcohol use were negatively associated with testing. On multivariable modeling, family history of cancer was positively associated with testing. Patients identifying as Black, having colon or prostate cancer, and having ECOG score of 2 had significantly lower association with genetic testing. CONCLUSION Uptake of HCS was lower in patients identifying as Black, those with colon or prostate cancer, and those with an ECOG score of 2. Efforts to increase HCS testing in these patients will be important to advance equitable cancer care.

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Impact of changing guidelines on genetic testing and surveillance recommendations in a contemporary cohort of breast cancer survivors with family history of pancreatic cancer

Cited by 4 publications

References 49 publications

Digenic Inheritance of Mutations in Homologous Recombination Genes in Cancer Patients

Digenic Inheritance of Mutations in Homologous Recombination Genes in Cancer Patients

Genetic testing—whether to allow complete freedom? Direct to consumer tests versus genetic tests for medical purposes

Hereditary Cancer Screening and Outcomes at an Urban Safety-Net Hospital

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