The ticking time-bomb. Health literacy in the context of genetic risk prediction in familial breast-ovarian cancer; A qualitative study

Personalised methods of predicting breast and ovarian cancer risk through genetic testing increasingly demand a person’s understanding and critical appraisal of risk-related information, as well as decision-making and acting upon disclosure of a positive test result. The current study aims at understanding health literacy (HL) among persons at risk of developing familial breast-ovarian cancer (FBOC) from a bottom-up perspective—incorporating their viewpoints into the research process. Its qualitative design integrates an ethnographic-narrative approach and findings from 10 narrative interviews with women who have undergone genetic testing, analysed by using reflexive grounded theory. The collected data reveal the entanglement of the women’s perceptions concerning the risk of getting ill, their identity, and their strategies of managing health. The analysis of this interplay provides an empirical basis for approaching HL in its communicative dimension, considering individuals’ understandings of health and illness, and emphasizing the role of critical HL.

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ROLE OF LIPID PROFILE IN OVARIAN CARCINOMA PATIENTS

International Journal of Medical and Biomedical Studies ◽

10.32553/ijmbs.v3i8.501 ◽

2019 ◽

Vol 3 (8) ◽

Author(s):

Dr. Manisha ◽

Dr. Ruchi Jindal

Keyword(s):

Ovarian Cancer ◽

Lipid Profile ◽

Cancer Patients ◽

Ovarian Tumor ◽

Ovarian Cancer Risk ◽

Low Level ◽

Medical College ◽

Group I ◽

History Of

Background: The term "ovarian cancer" includes several different types of cancer that arise from cells of the ovary, most commonly, tumors arise from the epithelium or lining cells of the ovary. Ovarian cancer risk is positively associated with higher consumption of dietary cholesterol and eggs, and inversely associated with a higher intake of vegetables. High consumption of fats may increase circulating estrogen levels, thus increasing the possibility of cell damage and proliferation that is responsible for cancerous growth. Material & Methods: The present study was conducted at Geetanjali Medical College and Hospital, Udaipur (Rajasthan). Total 100 cases (females) attending the obstetrics and gynecology department for some gynecological and other problem were selected for this study between the age of 40-60 years, who were attending cancer centre at GEETANJALI MEDICAL COLLEGE AND HOSPITAL, Udaipur (Rajasthan). GROUP I: - It consisted of healthy females control subjects (n=50) .By routine examination and tests, we ensured that all the subjects were healthy and there were no signs and symptoms or history of ovarian tumor and diseases GROUP II: - It consisted of ovarian cancer females subjects (n=50) with a history of ovarian tumor. Results: Higher level of cholesterol, LDL, VLDL and low level of HDL are found in ovarian cancer patients. Conclusion: The present study we highlights the importance and role of serum lipid profile in diagnosis, prognosis and recurrence of the disease. The study shows that serum level of cholesterol, LDL, VLDL was elevated in patients of ovarian cancer while low level of HDL are found in ovarian cancer patients. Key words: lipid profile, ovarian cancer.

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A randomized controlled trial of a decision aid for women considering genetic testing for breast and ovarian cancer risk

Breast Cancer Research and Treatment ◽

10.1007/s10549-007-9539-2 ◽

2007 ◽

Vol 107 (2) ◽

pp. 289-301 ◽

Cited By ~ 51

Author(s):

Claire E. Wakefield ◽

Bettina Meiser ◽

Judi Homewood ◽

Michelle Peate ◽

Alan Taylor ◽

...

Keyword(s):

Ovarian Cancer ◽

Randomized Controlled Trial ◽

Genetic Testing ◽

Cancer Risk ◽

Decision Aid ◽

Controlled Trial ◽

Ovarian Cancer Risk ◽

Breast And Ovarian Cancer ◽

Randomized Controlled

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Limitations of direct-to-consumer (DTC) genetic testing for hereditary breast and ovarian cancer.

Journal of Clinical Oncology ◽

10.1200/jco.2021.39.15_suppl.10515 ◽

2021 ◽

Vol 39 (15_suppl) ◽

pp. 10515-10515

Author(s):

Neelam Vijay Desai ◽

Elizabeth Dominic Barrows ◽

Sarah M. Nielsen ◽

Kathryn E. Hatchell ◽

Edward D. Esplin ◽

...

Keyword(s):

Ovarian Cancer ◽

Genetic Testing ◽

Cancer Risk ◽

Clinical Indication ◽

Ovarian Cancer Risk ◽

Cancer Genes ◽

Primary Analysis ◽

Risk Genes ◽

Group 3 ◽

Group 5

10515 Background: With the advent of DTC genetic testing, individuals have access to genetic testing without input from a healthcare professional. DTC testing now exists for the 3 Ashkenazi Jewish (AJ) BRCA1/2 founder variants. DTC testing may provide false reassurance to individuals that they do not carry a pathogenic or likely pathogenic variant (PLPV) in BRCA1/2 or other cancer-risk genes. Methods: Multi-panel genetic testing was performed in 348,692 individuals for a clinical indication of hereditary breast/ovarian cancer (Clinical cohort) and 7,636 self-referred ostensibly healthy individuals (Healthy cohort) by a clinical testing laboratory. The primary analysis evaluated PLPVs for Group 1 genes: BRCA1/2 AJ founder variants and Group 2: full sequence BRCA1/2. Secondary analyses assessed PLPVs in Group 3: high-risk breast cancer genes ( BRCA1/2, CDH1, PALB2, PTEN, STK11, TP53), Group 4: all breast or ovarian cancer-risk genes (Group 3 genes plus ATM, BARD1, BRIP1, truncating CHEK2, EPCAM, MLH1, MSH2/6, NF1, PMS2, RAD51C/D) and Group 5: 41 cancer-risk genes; these analyses were limited to participants who tested for all 41 genes. Potentially mosaic variants were excluded. Results: Table illustrates PLPVs found in both cohorts. The BRCA1/2 AJ founder variants account for only ̃11% (1513/13,987) and ̃30% (19/64) of the BRCA PLPVs in the Clinical and Healthy cohorts, respectively. Even among AJ individuals, testing only for the 3 founder variants will miss ̃10% (52/513) of all BRCA1/2 PLPVs. Evaluating only the BRCA AJ founder variants missed a higher percentage of PLPVs in other cancer-risk genes. Conclusions: The 3 BRCA1/2 AJ founder variants analyzed by DTC testing account for a small fraction of PLPVs in cancer-risk genes in the general population, and miss 10% of BRCA PLPVs even among AJ individuals. Greater public education is needed to dispel the misconception that DTC tests are equivalent to clinical assessment and comprehensive genetic testing. PLPVs identified in Clinical and Healthy Cohorts.[Table: see text]

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Predictors of risk-reducing surgery intentions following genetic counseling for hereditary breast and ovarian cancer

Translational Behavioral Medicine ◽

10.1093/tbm/iby101 ◽

2018 ◽

Vol 10 (2) ◽

pp. 337-346 ◽

Cited By ~ 3

Author(s):

Mary Kathleen Ladd ◽

Beth N Peshkin ◽

Leigha Senter ◽

Shari Baldinger ◽

Claudine Isaacs ◽

...

Keyword(s):

Breast Cancer ◽

Ovarian Cancer ◽

Genetic Counseling ◽

Cancer Risk ◽

Prophylactic Surgery ◽

Ovarian Cancer Risk ◽

Breast And Ovarian Cancer ◽

Affective Factors ◽

Risk Reducing

Abstract Risk-reducing mastectomy (RRM) and salpingo-oophorectomy (RRSO) are increasingly used to reduce breast and ovarian cancer risk following BRCA1/BRCA2 testing. However, little is known about how genetic counseling influences decisions about these surgeries. Although previous studies have examined intentions prior to counseling, few have examined RRM and RRSO intentions in the critical window between genetic counseling and test result disclosure. Previous research has indicated that intentions at this time point predict subsequent uptake of surgery, suggesting that much decision-making has taken place prior to result disclosure. This period may be a critical time to better understand the drivers of prophylactic surgery intentions. The aim of this study was to examine predictors of RRM and RRSO intentions. We hypothesized that variables from the Health Belief Model would predict intentions, and we also examined the role of affective factors. Participants were 187 women, age 21–75, who received genetic counseling for hereditary breast and ovarian cancer. We utilized multiple logistic regression to identify independent predictors of intentions. 49.2% and 61.3% of participants reported intentions for RRM and RRSO, respectively. Variables associated with RRM intentions include: newly diagnosed with breast cancer (OR = 3.63, 95% CI = 1.20–11.04), perceived breast cancer risk (OR = 1.46, 95% CI = 1.17–1.81), perceived pros (OR = 1.79, 95% CI = 1.38–2.32) and cons of RRM (OR = 0.81, 95% CI = 0.65–0.996), and decision conflict (OR = 0.80, 95% CI = 0.66–0.98). Variables associated with RRSO intentions include: proband status (OR = 0.28, 95% CI = 0.09–0.89), perceived pros (OR = 1.35, 95% CI = 1.11–1.63) and cons of RRSO (OR = 0.72, 95% CI = 0.59–0.89), and ambiguity aversion (OR = 0.79, 95% CI = 0.65–0.95). These data provide support for the role of genetic counseling in fostering informed decisions about risk management, and suggest that the role of uncertainty should be explored further.

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The role of polymorphisms occurring in BRCA1/2 genes in determining ovarian cancer risk.

Journal of Clinical Oncology ◽

10.1200/jco.2021.39.15_suppl.e17551 ◽

2021 ◽

Vol 39 (15_suppl) ◽

pp. e17551-e17551

Author(s):

Marta Castiglia ◽

Lorena Incorvaia ◽

Alessandro Perez ◽

Chiara Brando ◽

Antonio Galvano ◽

...

Keyword(s):

Ovarian Cancer ◽

Cancer Risk ◽

Small Sample Size ◽

Female Genital Tract ◽

Brca1 Gene ◽

Small Sample ◽

Clinicopathological Features ◽

Age At Diagnosis ◽

Ovarian Cancer Risk

e17551 Background: Ovarian cancer (OC) is the 10th tumor occurring in women, it accounts for 30% of all malignant tumor affecting female genital tract in Italy. There are several factors that contribute to OC development; in 15-25% of cases family history of breast and ovarian cancer represent the main risk factor. It is well known that pathogenic variants (PVs) occurring in BRCA1/2 genes strongly increase the risk of developing OC, ranging from 50% in BRCA1 PVs carriers to 30% in BRCA2 PVs carriers. Recently genetic polymorphism has been shown to increase cancer risk, consequently polymorphisms in BRCA1/2 genes could represent low penetrance susceptibility alleles and contribute to determine specific clinicopathological features in OC patients harboring BRCA1/2 PVs. Methods: From 2015 to 2021, 338 patients diagnosed with epithelial OC (not mucinous, not borderline) were subjected to BRCA1/2 analysis. After obtaining informed consent, blood samples were processed for genomic DNA isolation; DNA was used for library preparation with the BRaCa Screen kit. Sequencing was performed on the IonS5 platform; variant annotation was performed with Amplicon Suite software. We collected data of both PVs and polymorphisms in BRCA1/2 genes with the aim to evaluate whether a cluster of specific polymorphisms could impact clinicopathological features in BRCA1 PVs carriers. Results: Among the 338 screened EOC, BRCA1/2 PVs were reported in 85 patients (25%). 66% of patients harbored BRCA1 PVs and 34% in BRCA2. The most frequent BRCA1 PVs were the c.4964_4982del (5083del19), c.514delC and c.181T > G; the first and the last are known for their founder effect in Italy and Eastern Europe. Looking at BRCA1 gene, in 75% of patients we identified a polymorphisms cluster (c.2082C > T, c.2311T > C, c.2612C > T, c.3113A > G, c.3548A > G, c.4308T > C, c.4837A > G). The c.514delC and c.181T > G PVs are always associated with the cluster and two additional polymorphisms, the c.2077G > A and the c.1067A > G respectively. Conversely, the cluster seems not to be associated with the PVs 5083del19. Interestingly in BRCA1-5083del19 PV carriers median age at OC diagnosis was 50 years (range 45-69). On average, these patients developed ovarian cancer 6 years earlier than other BRCA1 PV carriers (median age at diagnosis 57 years; range 30-81). Bilateral tumors were frequent and occurred in 57% of the patients versus 33% in OC patients carrying other BRCA1 PVs. Therefore, it seems that the cluster has a “protective” effect and that its absence reduces age at diagnosis. Conclusions: Despite this study has the main limitation of a small sample size, we have reported a possible association between polymorphisms cluster and clinicopathological features in BRCA1 PVs carriers. By further investigating this aspect in a larger cohort, we might be able to prove the role of this cluster in increasing or reducing OC risk and providing clinicians more information useful for patients’ stratification.

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