Psychological outcomes and surgical decisions after genetic testing in women newly diagnosed with breast cancer with and without a family history

45 Background: Approximately 5% to 10% of women diagnosed with breast cancer have a genetic predisposition, which can affect management recommendations. The National Comprehensive Cancer Network (NCCN) has established guidelines for genetics referral and testing, however recent publications have indicated low rates of family history documentation and appropriate genetics referral. We sought to assess the impact of standardized family history documentation on rates of appropriate genetics referral in a multidisciplinary breast clinic (MDC) setting. Methods: In advance of MDC consultation, women with newly diagnosed breast cancer complete an intake questionnaire which includes documentation of Ashkenazi Jewish ancestry along with a thorough family history. We retrospectively analyzed family history documentation to inform eligibility for genetic testing and rates of appropriate genetics referral. Results: Between June 2012 and April 2014, 202 women with newly diagnosed, nonmetastatic breast cancer were seen in MDC. We noted 100% compliance with family history documentation. Per NCCN Guidelines, genetic testing was indicated in 52% (106 patients), of which 77% were appropriately referred to a genetic counselor for evaluation. All patients who met criteria based on personal history factors including age ≤ 45, triple-negative disease under age 60, or two or more breast primaries under age 50 were appropriately referred. Patients who were eligible but not referred ranged in age from 46 to 93 and were eligible for testing based on Ashkenzi Jewish ancestry (3 patients) or family history factors including a relative with ovarian cancer (3 patients), ≥2 relatives with breast cancer (5 patients), or a relative with breast cancer < age 50 (7 patients). Conclusions: Compared with recently published national averages, rates of appropriate family history documentation and genetic testing referrals are significantly higher in our MDC setting. However, this analysis has identified significant opportunity for improvement via identification of overlooked referral indications. Initiatives are underway to improve future compliance.

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Prevalence of BRCA1 and BRCA2 Mutations Among Patients With Ovarian, Primary Peritoneal, and Fallopian Tube Cancer in India: A Multicenter Cross-Sectional Study

JCO Global Oncology ◽

10.1200/go.21.00051 ◽

2021 ◽

pp. 849-861

Author(s):

Sudeep Gupta ◽

Senthil Rajappa ◽

Suresh Advani ◽

Amit Agarwal ◽

Shyam Aggarwal ◽

...

Keyword(s):

Breast Cancer ◽

Ovarian Cancer ◽

Family History ◽

Newly Diagnosed ◽

Brca1 And Brca2 ◽

Brca Mutations ◽

Fallopian Tube Cancer ◽

Cross Sectional ◽

Brca2 Mutations ◽

Brca1 Brca2

PURPOSE There are deficient data on prevalence of germline mutations in breast cancer susceptibility genes 1 and 2 ( BRCA1/ BRCA2) in Indian patients with ovarian cancer who are not selected by clinical features. METHODS This prospective, cross-sectional, noninterventional study in nine Indian centers included patients with newly diagnosed or relapsed epithelial ovarian, primary peritoneal, or fallopian tube cancer. The primary objective was to assess the prevalence of BRCA1/ BRCA2 mutations, and the secondary objective was to correlate BRCA1/ BRCA2 status with clinicopathologic characteristics. Mutation testing was performed by a standard next-generation sequencing assay. RESULTS Between March 2018 and December 2018, 239 patients with a median age of 53.0 (range, 23.0-86.0 years) years were included, of whom 203 (84.9%) had newly diagnosed disease, 36 (15.1%) had family history of ovarian or breast cancer, and 159 (66.5%) had serous subtype of epithelial ovarian cancer. Germline pathogenic or likely pathogenic mutations in BRCA1 and BRCA2 were detected in 37 (15.5%; 95% CI, 11.1 to 20.7) and 14 (5.9%; 95% CI, 3.2 to 9.6) patients, respectively, whereas variants of uncertain significance in these genes were seen in four (1.7%; 95% CI, 0.5 to 4.2) and six (2.5%; 95% CI, 0.9 to 5.4) patients, respectively. The prevalence of pathogenic or likely pathogenic BRCA mutations in patients with serous versus nonserous tumors, with versus without relevant family history, and ≤ 50 years versus > 50 years, were 40 of 159 (25.2%; 95% CI, 18.6 to 32.6) versus 11 of 80 (13.8%; 95% CI, 7.1 to 23.3; P = .0636), 20 of 36 (55.6%; 95% CI, 38.1 to 72.1) versus 41 of 203 (20.2%; 95% CI, 14.9 to 26.4; P < .0001), and 20 of 90 (22.2%; 95% CI, 14.1 to 32.2) versus 31 of 149 (20.8%; 95% CI, 14.6 to 28.2; P = .7956), respectively. CONCLUSION There is a high prevalence of pathogenic or likely pathogenic germline BRCA mutations in Indian patients with ovarian cancer.

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When knowledge of a heritable gene mutation comes out of the blue: treatment-focused genetic testing in women newly diagnosed with breast cancer

European Journal of Human Genetics ◽

10.1038/ejhg.2016.69 ◽

2016 ◽

Vol 24 (11) ◽

pp. 1517-1523 ◽

Cited By ~ 8

Author(s):

B Meiser ◽

◽

V F Quinn ◽

M Gleeson ◽

J Kirk ◽

...

Keyword(s):

Breast Cancer ◽

Genetic Testing ◽

Gene Mutation ◽

Newly Diagnosed

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Streamlined genetic education is effective in preparing women newly diagnosed with breast cancer for decision making about treatment-focused genetic testing: a randomized controlled noninferiority trial

Genetics in Medicine ◽

10.1038/gim.2016.130 ◽

2016 ◽

Vol 19 (4) ◽

pp. 448-456 ◽

Cited By ~ 17

Author(s):

Veronica F. Quinn ◽

◽

Bettina Meiser ◽

Judy Kirk ◽

Kathy M. Tucker ◽

...

Keyword(s):

Breast Cancer ◽

Decision Making ◽

Genetic Testing ◽

Newly Diagnosed ◽

Genetic Education ◽

Randomized Controlled ◽

Noninferiority Trial

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BRCA Detection Rate in an Italian Cohort of Luminal Early-Onset and Triple-Negative Breast Cancer Patients without Family History: When Biology Overcomes Genealogy

Cancers ◽

10.3390/cancers12051252 ◽

2020 ◽

Vol 12 (5) ◽

pp. 1252 ◽

Cited By ~ 1

Author(s):

Angela Toss ◽

Eleonora Molinaro ◽

Marta Venturelli ◽

Federica Domati ◽

Luigi Marcheselli ◽

...

Keyword(s):

Breast Cancer ◽

Genetic Testing ◽

Family History ◽

Triple Negative Breast Cancer ◽

Early Onset ◽

Detection Rate ◽

Triple Negative ◽

Brca2 Mutation ◽

Brca Testing ◽

Brca Genetic Testing

NCCN Guidelines recommend BRCA genetic testing in individuals with a probability >5% of being a carrier. Nonetheless, the cost-effectiveness of testing individuals with no tumor family history is still debated, especially when BRCA testing is offered by the national health service. Our analysis evaluated the rate of BRCA pathogenic or likely-pathogenic variants in 159 triple-negative breast cancer (TNBC) patients diagnosed ≤60 years, and 109 luminal-like breast cancer (BC) patients diagnosed ≤35 without breast and/or ovarian family histories. In TNBC patients, BRCA mutation prevalence was 22.6% (21.4% BRCA1). Mutation prevalence was 64.2% ≤30 years, 31.8% in patients aged 31–40, 16.1% for those aged 41–50 and 7.9% in 51–60 s. A total of 40% of patients with estrogen receptors (ER) 1–9% were BRCA1 carriers. BRCA detection rate in early-onset BCs was 6.4% (4.6% BRCA2). Mutation prevalence was 0% between 0–25 years, 9% between 26–30 years and 6% between 31–35 years. In conclusion, BRCA testing is recommended in TNBC patients diagnosed ≤60 years, regardless of family cancer history or histotype, and by using immunohistochemical staining <10% for both ER and/PR. In luminal-like early-onset BC, a lower BRCA detection rate was observed, suggesting a role for other predisposing genes along with BRCA genetic testing.

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Barriers to genetic testing in newly diagnosed breast cancer patients: Do surgeons limit testing?

The American Journal of Surgery ◽

10.1016/j.amjsurg.2016.08.012 ◽

2017 ◽

Vol 214 (1) ◽

pp. 105-110 ◽

Cited By ~ 12

Author(s):

Laura Hafertepen ◽

Alyssa Pastorino ◽

Nichole Morman ◽

Jennifer Snow ◽

Deepa Halaharvi ◽

...

Keyword(s):

Breast Cancer ◽

Genetic Testing ◽

Cancer Patients ◽

Newly Diagnosed ◽

Breast Cancer Patients

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Impact of breast cancer family history on tumor detection and tumor size in women newly-diagnosed with invasive breast cancer

Familial Cancer ◽

10.1007/s10689-013-9682-3 ◽

2013 ◽

Vol 13 (1) ◽

pp. 99-107 ◽

Cited By ~ 7

Author(s):

Fabienne Dominique Schwab ◽

Nicole Bürki ◽

Dorothy Jane Huang ◽

Viola Heinzelmann-Schwarz ◽

Seraina Margaretha Schmid ◽

...

Keyword(s):

Breast Cancer ◽

Family History ◽

Invasive Breast Cancer ◽

Tumor Size ◽

Tumor Detection ◽

Newly Diagnosed ◽

Breast Cancer Family ◽

Cancer Family ◽

Cancer Family History ◽

Breast Cancer Family History

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Genetic testing in young women with breast cancer: Results from a web-based survey

Journal of Clinical Oncology ◽

10.1200/jco.2007.25.18_suppl.21093 ◽

2007 ◽

Vol 25 (18_suppl) ◽

pp. 21093-21093

Author(s):

J. A. Shin ◽

S. Gelber ◽

J. Garber ◽

R. Rosenberg ◽

M. Przypyszny ◽

...

Keyword(s):

Breast Cancer ◽

Ovarian Cancer ◽

Genetic Testing ◽

Family History ◽

High Risk ◽

Young Women ◽

College Education ◽

Web Based ◽

Increased Risk ◽

History Of

21093 Background: Young women with breast cancer have an increased risk of harboring a BRCA1/2 mutation. The frequency of genetic testing in this population is not well described. We evaluated the reported frequency and factors associated with genetic testing among young breast cancer survivors identified through the Young Survival Coalition (YSC), an international advocacy group for young women with breast cancer. Methods: Items regarding family history and genetic testing were included in a large web-based survey addressing quality of life and fertility issues for young women with breast cancer. All YSC members were invited by email in March 2003 (N= 1,703 women) to participate in this cross-sectional survey. Results: 657 women completed the on-line survey; 622 were eligible for this analysis (age <40, no metastatic or recurrent disease). Mean age at breast cancer diagnosis was 33 years; mean age when surveyed 35.5 years. Stages included: 0 (10%), I (27%), II (49%), III (12%), missing (3%). 90% of women were white; 64% married; 49% with children; 78% had at least a college education; 42% of women reported a 1st or 2nd degree relative with breast or ovarian cancer, and 13% considered themselves high-risk for harboring a genetic mutation at the time of diagnosis. At the time of the survey, 23% of women had undergone genetic testing, and 26% of those tested reported that a mutation was found. In a multivariate model, women who were younger (age 36–40 vs. age =30, O.R. 2.26, p=0.004), more educated (< college vs. > college education, O.R. 2.62, p=0.0009), had a family history of breast or ovarian cancer (O.R. 3.15, p<0.0001), and had had a mastectomy (O.R. 1.99, p=0.001) were more likely to have undergone genetic testing. Non-significant covariates included: age at survey, stage, time since diagnosis, race, marital status, employment, finances, insurance, number of children, comorbidities, baseline anxiety and depression, and fear of recurrence. Conclusion: The majority of women diagnosed with breast cancer age 40 and younger do not undergo genetic testing. Younger, more educated women with a family history of breast or ovarian cancer are more likely to get tested. Further research to define the appropriateness of genetic testing in this relatively high-risk population is warranted. No significant financial relationships to disclose.

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Decision support for family history intake to determine eligibility for BRCA testing among multiethnic women.

Journal of Clinical Oncology ◽

10.1200/jco.2017.35.15_suppl.1586 ◽

2017 ◽

Vol 35 (15_suppl) ◽

pp. 1586-1586 ◽

Cited By ~ 1

Author(s):

Julia E. McGuinness ◽

Meghna S. Trivedi ◽

Alejandro Vanegas ◽

Hilary Colbeth ◽

Rossy Sandoval ◽

...

Keyword(s):

Breast Cancer ◽

Genetic Counseling ◽

Decision Support ◽

Genetic Testing ◽

Family History ◽

High Risk ◽

Self Report ◽

Brca Testing ◽

The Family ◽

Brca Genetic Testing

1586 Background: The U.S. Preventive Services Task Force (USPSTF) recommends that women who meet family history criteria for hereditary breast and ovarian cancer (HBOC) be referred for genetic counseling. However, HBOC genetic testing is under-utilized, particularly among racial/ethnic minorities. We evaluated different methods of family history intake, including a validated family history screener, documentation in the electronic health record (EHR), and a web-based decision aid (DA). Methods: Among women undergoing screening mammography, we administered a validated family history screener to determine eligibility for BRCA genetic testing based upon USPSTF guidelines. We developed a patient-centered DA ( RealRisks) which includes modules on breast cancer risk, collection of detailed family history, and information on HBOC genetic testing. Women who met high-risk criteria for breast cancer were enrolled in an intervention trial to determine whether exposure to RealRisks increases referrals for high-risk consultations. BRCA genetic counseling/testing uptake was assessed by self-report and EHR review. Results: From November 2014 to June 2016, 3077 women completed the family history screener. Median age was 59 years (range, 29-99), including 76% Hispanic, 4% Ashkenazi Jewish, and 60% with a high school education or less. 12% met family history criteria for BRCA genetic testing based upon the family history screener, of which only 5.9% had previously undergone genetic counseling or testing. Sixty high-risk women were enrolled to access RealRisks. When family histories based upon the screener, DA, and EHR were compared, 12 (20%) had discrepancies in number of affected relatives, type of cancer, and age at diagnosis which changed eligibility for BRCA testing. Follow-up is ongoing to determine whether the DA facilitates appropriate referrals for genetic counseling. Conclusions: In a population of predominantly Hispanic and less educated women, a large proportion met USPSTF family history criteria for BRCA testing, but uptake of genetic counseling was low. Developing decision support for accurate family history intake is critical to identifying appropriate candidates for genetic referrals.

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Studying the Association Between Breast Cancer and Renal Cell Carcinoma

10.21203/rs.3.rs-841536/v1 ◽

2021 ◽

Author(s):

Khalid A Jazieh ◽

Firas Baidoun ◽

Nataly Torrejon ◽

Zahi Merjaneh ◽

Anas Saad ◽

...

Keyword(s):

Breast Cancer ◽

Renal Cell Carcinoma ◽

Genetic Testing ◽

Family History ◽

Cell Carcinoma ◽

Renal Cell ◽

Case Reports ◽

Population Data ◽

Seer Database ◽

History Of

Abstract Purpose: There are case reports of patients with both primary breast cancer (BC) and renal cell carcinoma (RCC). We explore the association between these two malignancies using SEER population data and our institutional records.Methods: We studied the association between BC and RCC in the 2000-2016 Surveillance, Epidemiology and End Results (SEER) database. We then reviewed our hospital records of patients with both BC and RCC and collected information including personal and family history of cancers, genetic testing, and patient outcomes.Results: Of the 813,477 females diagnosed with BC in the SEER database, 1,914 later developed RCC. The risk of developing RCC was significantly increased within the first six months, 7-12 months, and 1-5 years following BC diagnosis with standardized incidence ratios (SIRs) of 5.08 (95% CI, 4.62- 5.57), 2.09 (95% CI, 1.8-2.42), and 1.15 (95% CI, 1.06-1.24), respectively. Of 56,200 females with RCC, 1,087 later developed BC. The risk of developing BC following RCC was elevated within the first six months (SIR of 1.45 [95% CI, 1.20-1.73]). For our hospital patients, 437 had both BC and RCC. 427 (97.71%) were female, and 358 (81.92%) were white, and breast cancer was diagnosed before RCC in 246 (61.5%) patients. There were 15 germline mutations in those with genetic testing. Conclusion:Our findings suggest that BC patients are at higher risk of developing RCC and vice versa. BC tended to precede RCC, and patients frequently had personal histories of other malignancies and a family history of cancer, particularly BC.

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