Should Genetic Testing for Cancer Predisposition Be Standard-of-Care for Women with Invasive Breast Cancer? The Murtha Cancer Center Experience

Rummel, Seth; Lovejoy, Leann A.; Turner, Clesson; Shriver, Craig D.; Ellsworth, Rachel E.

doi:10.3390/cancers12010234

Cited by 8 publications

(8 citation statements)

References 24 publications

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“…The number of risk assessments most likely is proportional to the number of new patients seen. Although cancer genetics clinics provide care for individuals with any cancer susceptibility gene, the majority of patients are seen for possible breast cancer genes 18,19 . Thus, the number of genetic risk assessments most likely is proportionately representative of breast genetics care.…”

Section: Methodsmentioning

confidence: 99%

Breast imaging, breast surgery, and cancer genetics in the age of COVID‐19

Yin

Singh

Drohan³

et al. 2020

Cancer

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BACKGROUND: The objective of the current study was to provide insight into the effect of coronavirus disease 2019 (COVID-19) on breast cancer screening, breast surgery, and genetics consultations. METHODS: User data from a risk assessment company were collected from February 2 to April 11, 2020. The use of risk assessment was used as a proxy for the use of 3 breast cancer services, namely, breast imaging, breast surgery, and genetics consultation. Changes in the use of these services during the study period were analyzed. RESULTS: All 3 services experienced significant declines after the COVID-19 outbreak. The decline in breast surgery began during the week of March 8, followed by breast imaging and genetics consultation (both of which began during the week of March 15). Breast imaging experienced the most significant reduction, with an average weekly decline of 61.7% and a maximum decline of 94.6%. Breast surgery demonstrated an average weekly decline of 20.5%. When surgical consultation was stratified as breast cancer versus no breast cancer, the decrease among in non-breast cancer patients was more significant than that of patients with breast cancer (a decline of 66.8% vs 11.5% from the pre-COVID average weekly volume for non-breast cancer patients and patients with breast cancer, respectively). During the week of April 5, use of genetics consultations dropped to 39.9% of the average weekly volumes before COVID-19. CONCLUSIONS: COVID-19 has had a significant impact on the number of patients undergoing breast cancer prevention, screening, diagnosis, and treatment. Cancer 2020;126:4466-4472.

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Section: Methodsmentioning

confidence: 99%

Breast imaging, breast surgery, and cancer genetics in the age of COVID‐19

Yin

Singh

Drohan³

et al. 2020

Cancer

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“…The resulting libraries were sequenced on a MiSeq (Illumina, Inc, San Diego, CA, USA). Variant Interpreter (Illumina, Inc, San Diego, CA, USA) was used for the data analysis; only variants with a minor allele frequency of >25% were included [12]. Variants were classified using the ClinVar database (http://www.clinvar.com/).…”

Section: Methodsmentioning

confidence: 99%

Heritability of Low ER Staining/HER2-Breast Tumors: Are We Missing an Opportunity for Germline Testing?

Lovejoy

Turner

Wells

et al. 2020

Genes

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In 2010, the genetic testing criteria was changed to allow women diagnosed ≤ 60 years old with triple negative breast cancer (TNBC) to undergo germline testing. In the same year, estrogen receptor (ER) positivity was defined as having ≥1% ER staining cells. While tumors with 1–10% ER staining cells and HER2 negative (HER2-) status share characteristics with TNBC, the utility of germline testing in women with ER low positive/HER2- (ERLP/HER2-) tumors is not well-understood. To this end, all patients with hormone receptor positive staining cells ≤ 10% and negative HER2 status were identified. Clinical genetic test results were extracted for patients who underwent testing. Panel testing was performed for those women who had genomic DNA available for research purposes. ERLP/HER2-tumors constituted 2.7% of all tumors in the database. Patients did not differ significantly from those with TNBC by age at diagnosis, ethnicity, family history or tumor size, stage or grade (p > 0.05). Mutation frequency did not differ significantly (p = 0.757) between groups (ERLP/HER2- 16.1%; TNBC 16.7%). Hereditary forms of breast cancer were similar in both ERLP/HER2- and TNBC, thus current guidelines may result in the under testing of women with low ER tumors, resulting in missed opportunities to improve patient management.

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“…Results from clinical genetic testing (n=110) were extracted from the CBCP database. isolated from blood samples as previously described (9). Sequencing libraries were created using Illumina DNA prep with enrichment kits and the TruSight Cancer panel and sequenced on a MiSeq (Illumina, Inc, San Diego, CA) according to manufacturer's protocols.…”

Section: Patient Datamentioning

confidence: 99%

“…Sequencing libraries were created using Illumina DNA prep with enrichment kits and the TruSight Cancer panel and sequenced on a MiSeq (Illumina, Inc, San Diego, CA) according to manufacturer's protocols. Data were analyzed and variants classified as previously described (9). Statistical analyses were performed using Fisher's exact tests and Chisquare analyses.…”

Section: Patient Datamentioning

confidence: 99%

Eligibility, uptake and response to germline genetic testing in women with DCIS

et al. 2022

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BackgroundDuctal carcinoma in situ (DCIS) is a malignant, yet pre-invasive disease of the breast. While the majority of DCIS have low risk of recurrence, a subset of women with germline pathogenic variants (PV) in cancer predisposition genes are at increased risk for recurrence. Uptake of genetic testing and subsequent surgical intervention in women with DCIS has not been well-studied. The aim of this study was to evaluate test eligibility parameters, uptake of clinical testing, impact on surgical decision making and second cancer events (SCE) in women with DCIS.MethodsFour-hundred eighty-four women diagnosed with unilateral DCIS 2001-2020 were eligible for this study. Demographic, commercial genetic test results and surgical procedures were extracted from the database. Test-eligibility was assigned using National Comprehensive Cancer Network (NCCN) criteria. Panel genetic testing was performed in the research laboratory across 94 cancer predisposition genes. Statistical analyses were performed using Fisher’s exact tests and Chi-square analyses with p < 0.05 defining significance.ResultsForty-four percent of women were test-eligible at diagnosis of which 63.4% pursued genetic testing before definitive surgery; 9.9% pursued testing only after a second cancer event. Bilateral mastectomy (BM) was significantly higher (p<0.001) in women who had testing before definitive surgery (46.9%) compared to those who had testing afterword (10.8%) and in women who underwent testing before definitive surgery with PV (75%) compared to those without PV (37.5%. p=0.045). Of the 39 women with PV, 20 (51.3%) were detected only in the research setting, with 7 (17.9%) of these women not eligible for genetic testing based on NCCN criteria. In women who did not undergo BM at diagnosis, SCE were significantly higher (p=0.001) in women with PV (33.3%) compared to those without PV (11.9%).ConclusionPursuit of genetic testing and subsequent use of risk-reducing surgeries in women with PV was suboptimal in women with a primary diagnosis of DCIS. In conjunction, >50% of PV were detected only in the research setting. Because omission of genetic testing in women with DCIS may represent a lost opportunity for prevention, genetic testing at the time of diagnosis should be standard for all women with DCIS.

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Should Genetic Testing for Cancer Predisposition Be Standard-of-Care for Women with Invasive Breast Cancer? The Murtha Cancer Center Experience

Cited by 8 publications

References 24 publications

Breast imaging, breast surgery, and cancer genetics in the age of COVID‐19

Breast imaging, breast surgery, and cancer genetics in the age of COVID‐19

Heritability of Low ER Staining/HER2-Breast Tumors: Are We Missing an Opportunity for Germline Testing?

Eligibility, uptake and response to germline genetic testing in women with DCIS

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