A prospective study of stress, anxiety and depression response to undergoing genetic assessment at the time of ovarian cancer diagnosis.

e13024 Background: Genetic assessment (GA) is recommended for all women with ovarian cancer however little is known about the psychological implications of this intervention. We sought to evaluate the psychological response to GA in newly diagnosed ovarian cancer patients as part of our facilitated genetics referral pathway. Methods: English-speaking patients with ovarian cancer undergoing GA at the time of cancer diagnosis completed three validated anxiety, stress and depression survey instruments immediately prior to and following GA and again 6-9 months after GA. Results: Forty-eight English-speaking patients underwent GA; 43 (90%) completed the pre-GA survey, 32 (67%) post-GA survey and 11 (23%) 6-9 months follow-up survey. Eight patients (17%) had documented psychiatric diagnoses (5 anxiety, 2 depression, 1 anxiety+depression) prior to cancer diagnosis. Overall, patients demonstrated mild to moderate stress, clinically significant anxiety and borderline depression (Table 1). There was no change in depression, anxiety or stress scores when comparing pre- to post-GA surveys. Age, stage, method of treatment, performance status at enrollment and history of psychiatric disorders were not associated with anxiety, stress or depression. Conclusions: A genetic testing pathway whereby GA is encouraged and facilitated at the time of diagnosis has not increased patient depression, anxiety or stress in our cohort. Concern about causing additional emotional distress should not deter clinicians from early genetics referral. [Table: see text]

Download Full-text

Characteristics of probands with mutations predisposing to gynecologic cancers enrolled in a facilitated cascade testing protocol.

Journal of Clinical Oncology ◽

10.1200/jco.2020.38.15_suppl.e13682 ◽

2020 ◽

Vol 38 (15_suppl) ◽

pp. e13682-e13682

Author(s):

Kristina Hwang ◽

Katherine Baumann ◽

Allison Brodsky ◽

Kathleen Lutz ◽

Deanna Gerber ◽

...

Keyword(s):

Ovarian Cancer ◽

Cancer Diagnosis ◽

Genetic Mutation ◽

Personal History ◽

Gynecologic Cancers ◽

Cascade Testing ◽

Pathogenic Mutations ◽

History Of ◽

Mutation Identification ◽

History Of Cancer

e13682 Background: We sought to evaluate the feasibility of obtaining genetic testing (GT) for first- or second-degree (1°, 2°) family members of a proband known to have actionable germline mutation associated with endometrial and/or ovarian cancer through a coordinated referral system. Here we characterize the initial probands and discuss the time frame of their enrollment in facilitated cascade testing (CT). Methods: Patients with pathogenic mutations associated with gynecologic cancers were determined from cancer genetics and gynecologic oncology clinics. Consenting patients completed a RedCap survey on personal cancer history and history of GT. They were then asked to contact 1° and/or 2° relatives regarding their GT results. Relatives were advised to contact our team. Relatives who consented to the study were referred for GT and contacted for follow up to ascertain whether they received GT and/or took action to reduce cancer risk. Results: From 3/2019- 1/2020, this study has accrued 39 probands. The median age was 39 years (range: 25-68). The most commonly expressed gene mutations were BRCA1 or BRCA2 (87.18%, n=34). Other mutations included BRIP1, MLH1, MSH2, MSH6, and PMS2. The majority (62%) of probands had no personal history of cancer. Among those who had a history of cancer (n=15), 80% had breast and/or ovarian cancer, and 80% reported their genetic mutation was discovered at or after the time of their cancer diagnosis. Median age at time of enrollment in CT was 49 years (range: 29-66) for patients with a history of cancer and 32 years (range: 25- 68) for those without, (p=0.009). Among all probands, the median time between mutation identification and enrollment in CT was 2 years (range=0 to 11). There was no significant difference in time between mutation identification and enrollment in CT when comparing those with and without cancer histories (p=0.5). Conclusions: These results suggest that patients with pathogenic mutations predisposing to gynecologic cancer are willing to undergo CT even if they have no personal history of cancer. Patients with a history of cancer tend to be older at time of enrollment in CT, likely because most discover their genetic mutation at or after the time of cancer diagnosis. With an average of 2 years elapsed between time of mutation identification and enrollment in CT, there is need for expansion of CT accessibility. Increased education and awareness among patients and providers in identifying those who may benefit from CT, screening, and risk reducing surgery to prevent cancer is needed.

Download Full-text

Suicide in probation: Towards the ideation-to-action model

Probation Journal ◽

10.1177/02645505211041581 ◽

2021 ◽

pp. 026455052110415

Author(s):

Charlie Brooker ◽

Karen Tocque ◽

Georgia West ◽

Alice Norman-Taylor ◽

James Fowler

Keyword(s):

Suicide Ideation ◽

Suicide Attempts ◽

Psychological Treatment ◽

Secondary Analysis ◽

Control Group ◽

Significant Difference ◽

Action Model ◽

History Of ◽

Clinically Significant ◽

A Prospective Study

Suicide in probation services is far higher than the general population. This paper presents secondary analysis of data previously used to evaluate the outcome of delivering psychological treatment to probationers in London. A sample of probation service users who screened positive for clinically significant symptoms of distress and were subsequently assessed and offered treatment ( n = 274) were allocated retrospectively to one of three groups: those with a history of suicidal ideations but no suicide attempts (ideation group), those with a history of a suicidal act (attempt group) or a control group where suicide was not evident (no history group). Results indicate no significant difference between the ideation and the attempt groups, but significant differences between these and the no history group. The findings are discussed within the context of the suicide ideation-to-action models that have been debated in other offender settings. We conclude that a more nuanced understanding of suicidal acts and suicide attempts is required in probation services including a prospective study that tests the ideation-to-action model.

Download Full-text

Family history of breast cancer as a risk factor for ovarian cancer in a prospective study

Cancer ◽

10.1002/cncr.22082 ◽

2006 ◽

Vol 107 (5) ◽

pp. 1075-1083 ◽

Cited By ~ 14

Author(s):

Neely Kazerouni ◽

Mark H. Greene ◽

James V. Lacey ◽

Pamela J. Mink ◽

Catherine Schairer

Keyword(s):

Breast Cancer ◽

Ovarian Cancer ◽

Risk Factor ◽

Family History ◽

Prospective Study ◽

History Of ◽

A Prospective Study

Download Full-text

Pathogenic Variants in BRIP1, RAD51C, and RAD51D Identified with Multi-Gene Panel Testing for Hereditary Cancers

10.21203/rs.3.rs-27547/v1 ◽

2020 ◽

Author(s):

Shelly Cummings ◽

Susana San Roman ◽

Jennifer Saam ◽

Ryan Bernhisel ◽

Krystal Brown ◽

...

Keyword(s):

Ovarian Cancer ◽

Cancer Risk ◽

Cancer Diagnosis ◽

Fold Increase ◽

Ovarian Cancer Risk ◽

Risk Genes ◽

Panel Testing ◽

Pathogenic Variants ◽

Gene Panel Testing ◽

History Of

Abstract Background: Professional society guidelines recommend risk-reducing salpingo-oophorectomy (RRSO) for women with pathogenic variants (PVs) in ovarian cancer-risk genes. Personalization of that intervention is based on gene-specific phenotypes; however, the age of ovarian cancer diagnosis in women with PVs in moderate penetrance ovarian cancer-risk genes is not well characterized. Women who had hereditary cancer panel testing from September 2013-May 2019 were included (N=631,950). Clinical/demographic information was compared for women with a PV in BRIP1, RAD51C, or RAD51D versus in BRCA1 or BRCA2. Results: PVs in BRIP1, RAD51C, or RAD51D were identified in 0.5% of all tested women but in 1.6% of women with a history of ovarian cancer (~3-fold increase). PVs in BRCA1 or BRCA2 were identified in 2.4% of all tested women but in 6.1% of women with a history of ovarian cancer (~2.5-fold increase). The proportion of women with a personal or family history of ovarian cancer was similar among women with a PV in BRIP1, RAD51C, RAD51D, BRCA1, or BRCA2. The median age at ovarian cancer diagnosis was 53 years in BRCA1, 59 years for BRCA2, 65 years for BRIP1, 62 years for RAD51C, and 57 years for RAD51D.Conclusions: These data reinforce the importance of identifying PVs in moderate penetrance ovarian cancer-risk genes. The age at ovarian cancer diagnosis was older for women with PVs in BRIP1, RAD51C, or RAD51D, suggesting that it is safe to delay RRSO until age 45-50 in RAD51D PV carriers and possibly, until age 50-55 in BRIP and RAD51C PV carriers.

Download Full-text

Gut instinct: a diagnostic tool?

The Journal of Laryngology & Otology ◽

10.1017/s0022215115000614 ◽

2015 ◽

Vol 129 (4) ◽

pp. 365-368 ◽

Cited By ~ 5

Author(s):

I Z Iqbal ◽

N Kara ◽

C Hartley

Keyword(s):

Head And Neck Cancer ◽

Head And Neck ◽

Neck Cancer ◽

Cancer Diagnosis ◽

Previous History ◽

Diagnostic Procedures ◽

Clinical Suspicion ◽

History Of ◽

Diagnosis Of Cancer ◽

A Prospective Study

AbstractObjectives:It is generally accepted that with experience clinicians develop the ability to identify patients who present with malignancy prior to a formal diagnosis. This ability cannot be quantified, nor is it a plausible substitute for investigation. This study aimed to evaluate the association between instinct and head and neck cancer diagnosis.Methods:A prospective study of patients requiring urgent diagnostic procedures for suspected cancer between August and December 2010 was performed. Risk factors, symptoms, signs and the clinician's impression were recorded. These were graded and subsequently correlated with histology findings.Results:Twenty-seven patients, with a mean age of 62.2 years, underwent a diagnostic procedure. Thirty per cent of patients were referred under the two-week pathway and 18.5 per cent had a previous history of head and neck cancer. A diagnosis of cancer was made in 37 per cent of patients. There was a positive correlation between clinical suspicion and cancer diagnosis (Kendall's tau-b = 0.648749).Conclusion:This study highlights the importance of clinical suspicion in cancer diagnosis. Although clinical suspicion cannot be quantified, it should be regarded as an integral part of patient assessment.

Download Full-text

Age of ovarian cancer diagnosis among BRIP1, RAD51C, and RAD51D mutation carriers identified through multi-gene panel testing

Journal of Ovarian Research ◽

10.1186/s13048-021-00809-w ◽

2021 ◽

Vol 14 (1) ◽

Author(s):

Shelly Cummings ◽

Susana San Roman ◽

Jennifer Saam ◽

Ryan Bernhisel ◽

Krystal Brown ◽

...

Keyword(s):

Ovarian Cancer ◽

Cancer Risk ◽

Cancer Diagnosis ◽

Fold Increase ◽

Ovarian Cancer Risk ◽

Risk Genes ◽

Panel Testing ◽

Pathogenic Variants ◽

Gene Panel Testing ◽

History Of

Abstract Background Professional society guidelines recommend risk-reducing salpingo-oophorectomy (RRSO) for women with pathogenic variants (PVs) in ovarian cancer-risk genes. Personalization of that intervention is based on gene-specific phenotypes; however, the age of ovarian cancer diagnosis in women with PVs in moderate penetrance ovarian cancer-risk genes is not well characterized. Women who had hereditary cancer panel testing from September 2013–May 2019 were included (N = 631,950). Clinical/demographic information was compared for women with a PV in BRIP1, RAD51C, or RAD51D versus in BRCA1 or BRCA2. Results PVs in BRIP1, RAD51C, or RAD51D were identified in 0.5% of all tested women but in 1.6% of women with a history of ovarian cancer (~ 3-fold increase). PVs in BRCA1 or BRCA2 were identified in 2.4% of all tested women but in 6.1% of women with a history of ovarian cancer (~ 2.5-fold increase). The proportion of women with a personal or family history of ovarian cancer was similar among women with a PV in BRIP1, RAD51C, RAD51D, BRCA1, or BRCA2. The median age at ovarian cancer diagnosis was 53 years for BRCA1, 59 years for BRCA2, 65 years for BRIP1, 62 years for RAD51C, and 57 years for RAD51D. Conclusions These data reinforce the importance of identifying PVs in moderate penetrance ovarian cancer-risk genes. The age at ovarian cancer diagnosis was older for women with PVs in BRIP1, RAD51C, or RAD51D, suggesting that it is safe to delay RRSO until age 45–50 in RAD51D PV carriers and possibly until age 50–55 in BRIP and RAD51C PV carriers.

Download Full-text

Referral of early onset renal cell carcinoma for clinical cancer genetic assessment.

Journal of Clinical Oncology ◽

10.1200/jco.2016.34.2_suppl.613 ◽

2016 ◽

Vol 34 (2_suppl) ◽

pp. 613-613

Author(s):

Lynda Corrigan ◽

Trudi McDevitt ◽

Andrew J. Green ◽

David Barton ◽

David J. Gallagher

Keyword(s):

Family History ◽

Early Onset ◽

Age Of Onset ◽

Cancer Genetics ◽

Early Age ◽

Clinical Genetics ◽

Number Of Patients ◽

History Of ◽

Genetic Assessment ◽

Genetics Referral

613 Background: Approximately 1-8% of renal cell carcinomas (RCCs) are associated with inherited predisposition. No consensus referral guideline exists for genetic assessment for RCC. Early age of onset, the presence of a family history and type II papillary RCC should trigger clinical genetics referral. We investigated the pattern of cancer genetics referral for early-onset RCC in Ireland. Methods: The number of patients with RCC diagnosed under the age of 50 between 2005 and 2013, was obtained from the National Cancer Registry of Ireland. RCC was defined by the WHO/IARC Classification. The number of patients referred for genetic work-up with RCC < 50 years of age was ascertained from The National Centre for Medical Genetics. Individuals unaffected by RCC but with a family history of RCC were excluded. The database was searched using the following search terms: Von Hippel-Lindau (VHL), Birt-Hogg-Dube (BHD) and RCC; and the clinical reason for referral recorded. Results: 580 patients were diagnosed with RCC below the age of 50. 71 percent were between 40 and 49 years of age (n=410). 52 patients were referred to The National Centre for Medical Genetics. Indications for referral are listed in Table 1. 7 patients were referred for a diagnosis of RCC < 50 years of age. The average age of these patients was 37.8 years. Three of the referrals were for early age of onset of RCC; two referrals were made for early age of onset with a family history of RCC; and two with early onset RCC and bilateral RCCs. This represents a referral rate of approximately 0.01% for early onset RCC in Ireland. Conclusions: Most early onset RCC is not referred for clinical cancer genetics assessment. The heritability of RCC is incompletely understood. Improved referral patterns, increased clinical genetics assessment and a better understanding of the genetic aetiology of RCC may have preventive and therapeutic implications for this disease. [Table: see text]

Download Full-text