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  1. Article ; Online: Germline Genetic Testing for Hereditary Breast and Ovarian Cancer: Current Concepts in Risk Evaluation.

    Yadav, Siddhartha / Couch, Fergus J / Domchek, Susan M

    Cold Spring Harbor perspectives in medicine

    2023  

    Abstract: Our understanding of hereditary breast and ovarian cancer has significantly improved over the past two decades. In addition ... ...

    Abstract Our understanding of hereditary breast and ovarian cancer has significantly improved over the past two decades. In addition to
    Language English
    Publishing date 2023-12-27
    Publishing country United States
    Document type Journal Article
    ISSN 2157-1422
    ISSN (online) 2157-1422
    DOI 10.1101/cshperspect.a041318
    Database MEDical Literature Analysis and Retrieval System OnLINE

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  2. Article: Protein truncating variants in FANCM and risk for ER-negative/triple negative breast cancer.

    Peterlongo, Paolo / Figlioli, Gisella / Deans, Andrew J / Couch, Fergus J

    NPJ breast cancer

    2021  Volume 7, Issue 1, Page(s) 130

    Language English
    Publishing date 2021-09-28
    Publishing country United States
    Document type Journal Article
    ISSN 2374-4677
    ISSN 2374-4677
    DOI 10.1038/s41523-021-00338-1
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  3. Article ; Online: Germline Genetic Testing for Breast Cancer Risk: The Past, Present, and Future.

    Yadav, Siddhartha / Couch, Fergus J

    American Society of Clinical Oncology educational book. American Society of Clinical Oncology. Annual Meeting

    2019  Volume 39, Page(s) 61–74

    Abstract: The field of germline genetic testing for breast cancer (BC) risk has evolved substantially in the last decade. The introduction of multigene panel testing (MGPT) led to an urgent need to understand the cancer risk associated with several genes included ... ...

    Abstract The field of germline genetic testing for breast cancer (BC) risk has evolved substantially in the last decade. The introduction of multigene panel testing (MGPT) led to an urgent need to understand the cancer risk associated with several genes included in the panels. Although the research on understanding the cancer risk associated with mutations in several genes continues, there is also a need to understand the modifying effects of race and ethnicity, family history, and BC pathology on the prevalence of germline mutations and associated BC risk. Furthermore, polygenic risk scores (PRSs) to predict BC risk in patients with or without germline mutations in cancer-predisposition genes are now available for clinical use, although data on the clinical utility of PRSs are lacking. In patients with advanced BC associated with
    MeSH term(s) Biomarkers, Tumor ; Breast Neoplasms/diagnosis ; Breast Neoplasms/epidemiology ; Breast Neoplasms/etiology ; Breast Neoplasms/prevention & control ; Female ; Genetic Predisposition to Disease ; Genetic Testing ; Germ-Line Mutation ; Humans ; Neoplasm Staging ; Precision Medicine ; Prevalence ; Public Health Surveillance ; Risk Assessment ; Risk Factors
    Chemical Substances Biomarkers, Tumor
    Language English
    Publishing date 2019-05-17
    Publishing country United States
    Document type Journal Article ; Review
    ZDB-ID 2431126-1
    ISSN 1548-8756 ; 1548-8748
    ISSN (online) 1548-8756
    ISSN 1548-8748
    DOI 10.1200/EDBK_238987
    Database MEDical Literature Analysis and Retrieval System OnLINE

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  4. Article ; Online: BRCA1 frameshift variants leading to extended incorrect protein C termini.

    Nepomuceno, Thales C / Foo, Tzeh Keong / Richardson, Marcy E / Ranola, John Michael O / Weyandt, Jamie / Varga, Matthew J / Alarcon, Amaya / Gutierrez, Diana / von Wachenfeldt, Anna / Eriksson, Daniel / Kim, Raymond / Armel, Susan / Iversen, Edwin / Couch, Fergus J / Borg, Åke / Xia, Bing / Carvalho, Marcelo A / Monteiro, Alvaro N A

    HGG advances

    2024  Volume 5, Issue 3, Page(s) 100296

    Language English
    Publishing date 2024-04-25
    Publishing country United States
    Document type Published Erratum
    ISSN 2666-2477
    ISSN (online) 2666-2477
    DOI 10.1016/j.xhgg.2024.100296
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  5. Article ; Online: Prevalence and impact of fertility concerns in young women with breast cancer.

    Mannion, Samantha / Higgins, Alexandra / Larson, Nicole / Stewart, Elizabeth A / Khan, Zaraq / Shenoy, Chandra / Nichols, Hazel B / Su, H Irene / Partridge, Ann H / Loprinzi, Charles L / Couch, Fergus / Olson, Janet E / Ruddy, Kathryn J

    Scientific reports

    2024  Volume 14, Issue 1, Page(s) 4418

    Abstract: Survey data from the Mayo Clinic Breast Disease Registry were used to assess fertility counseling and fertility preservation strategies in a modern cohort of young women with breast cancer. One hundred respondents were identified who were under age 50 at ...

    Abstract Survey data from the Mayo Clinic Breast Disease Registry were used to assess fertility counseling and fertility preservation strategies in a modern cohort of young women with breast cancer. One hundred respondents were identified who were under age 50 at the time of breast cancer diagnosis and who expressed interest in future childbearing near the time of diagnosis and/or 1 year later. Ninety-three percent of the 81 respondents to the year one survey recalled fertility counseling prior to cancer treatment. Most who reported a high level of fertility concern declared that this concern had impacted their treatment decisions, often shortening their planned duration of endocrine therapy. Approximately half had taken steps to preserve future fertility, and a third had used a gonadotropin-releasing hormone agonist either alone or combined with another method (e.g., embryo or oocyte cryopreservation).
    MeSH term(s) Humans ; Female ; Middle Aged ; Breast Neoplasms/epidemiology ; Breast Neoplasms/therapy ; Prevalence ; Fertility Preservation ; Cryopreservation ; Fertility
    Language English
    Publishing date 2024-02-22
    Publishing country England
    Document type Journal Article
    ZDB-ID 2615211-3
    ISSN 2045-2322 ; 2045-2322
    ISSN (online) 2045-2322
    ISSN 2045-2322
    DOI 10.1038/s41598-024-54961-6
    Database MEDical Literature Analysis and Retrieval System OnLINE

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  6. Article: Prediction of the functional impact of missense variants in BRCA1 and BRCA2 with BRCA-ML.

    Hart, Steven N / Polley, Eric C / Shimelis, Hermella / Yadav, Siddhartha / Couch, Fergus J

    NPJ breast cancer

    2020  Volume 6, Page(s) 13

    Abstract: In silico predictions of missense variants is an important consideration when interpreting variants of uncertain significance (VUS) in ... ...

    Abstract In silico predictions of missense variants is an important consideration when interpreting variants of uncertain significance (VUS) in the
    Language English
    Publishing date 2020-04-29
    Publishing country United States
    Document type Journal Article
    ISSN 2374-4677
    ISSN 2374-4677
    DOI 10.1038/s41523-020-0159-x
    Database MEDical Literature Analysis and Retrieval System OnLINE

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  7. Article: Clinical Outcomes and Prognostic Factors in Triple-Negative Invasive Lobular Carcinoma of the Breast.

    Joshi, Utsav / Budhathoki, Pravash / Gaire, Suman / Yadav, Sumeet K / Shah, Anish / Adhikari, Anurag / Choong, Grace / Couzi, Rima / Giridhar, Karthik / Leon-Ferre, Roberto / Boughey, Judy C / Hieken, Tina J / Mutter, Robert / Ruddy, Kathryn J / Haddad, Tufia C / Goetz, Matthew P / Couch, Fergus J / Yadav, Siddhartha

    Research square

    2023  

    Abstract: Purpose: ...

    Abstract Purpose:
    Language English
    Publishing date 2023-03-20
    Publishing country United States
    Document type Preprint
    DOI 10.21203/rs.3.rs-2658909/v1
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  8. Article: Automated mitotic spindle hotspot counts are highly associated with clinical outcomes in systemically untreated early-stage triple-negative breast cancer.

    Leon-Ferre, Roberto A / Carter, Jodi M / Zahrieh, David / Sinnwell, Jason P / Salgado, Roberto / Suman, Vera J / Hillman, David W / Boughey, Judy C / Kalari, Krishna R / Couch, Fergus J / Ingle, James N / Balkenhol, Maschenka / Ciompi, Francesco / van der Laak, Jeroen / Goetz, Matthew P

    NPJ breast cancer

    2024  Volume 10, Issue 1, Page(s) 25

    Abstract: Operable triple-negative breast cancer (TNBC) has a higher risk of recurrence and death compared to other subtypes. Tumor size and nodal status are the primary clinical factors used to guide systemic treatment, while biomarkers of proliferation have not ... ...

    Abstract Operable triple-negative breast cancer (TNBC) has a higher risk of recurrence and death compared to other subtypes. Tumor size and nodal status are the primary clinical factors used to guide systemic treatment, while biomarkers of proliferation have not demonstrated value. Recent studies suggest that subsets of TNBC have a favorable prognosis, even without systemic therapy. We evaluated the association of fully automated mitotic spindle hotspot (AMSH) counts with recurrence-free (RFS) and overall survival (OS) in two separate cohorts of patients with early-stage TNBC who did not receive systemic therapy. AMSH counts were obtained from areas with the highest mitotic density in digitized whole slide images processed with a convolutional neural network trained to detect mitoses. In 140 patients from the Mayo Clinic TNBC cohort, AMSH counts were significantly associated with RFS and OS in a multivariable model controlling for nodal status, tumor size, and tumor-infiltrating lymphocytes (TILs) (p < 0.0001). For every 10-point increase in AMSH counts, there was a 16% increase in the risk of an RFS event (HR 1.16, 95% CI 1.08-1.25), and a 7% increase in the risk of death (HR 1.07, 95% CI 1.00-1.14). We corroborated these findings in a separate cohort of systemically untreated TNBC patients from Radboud UMC in the Netherlands. Our findings suggest that AMSH counts offer valuable prognostic information in patients with early-stage TNBC who did not receive systemic therapy, independent of tumor size, nodal status, and TILs. If further validated, AMSH counts could help inform future systemic therapy de-escalation strategies.
    Language English
    Publishing date 2024-03-29
    Publishing country United States
    Document type Journal Article
    ISSN 2374-4677
    ISSN 2374-4677
    DOI 10.1038/s41523-024-00629-3
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  9. Article: Prognostic stratification of endometrial cancers with high microsatellite instability or no specific molecular profile.

    Gonzalez-Bosquet, Jesus / Weroha, S John / Bakkum-Gamez, Jamie N / Weaver, Amy L / McGree, Michaela E / Dowdy, Sean C / Famuyide, Abimbola O / Kipp, Benjamin R / Halling, Kevin C / Yadav, Siddhartha / Couch, Fergus J / Podratz, Karl C

    Frontiers in oncology

    2023  Volume 13, Page(s) 1105504

    Abstract: Objective: To identify high-risk disease in clinicopathologic low-risk endometrial cancer (EC) with high microsatellite instability (MSI-H) or no specific molecular profile (NSMP) and therapeutic insensitivity in clinicopathologic high-risk MSI-H/NSMP ... ...

    Abstract Objective: To identify high-risk disease in clinicopathologic low-risk endometrial cancer (EC) with high microsatellite instability (MSI-H) or no specific molecular profile (NSMP) and therapeutic insensitivity in clinicopathologic high-risk MSI-H/NSMP EC.
    Methods: We searched The Cancer Genome Atlas for DNA sequencing, RNA expression, and surveillance data regarding MSI-H/NSMP EC. We used a molecular classification system of
    Results: Data were available for 239 patients with EC, which included 58 MSI-H and 89 NSMP cases. ECPPF effectively stratified MSI-H/NSMP EC into distinct molecular groups with prognostic implications: molecular low risk (MLR), with low
    Conclusion: ECPPF may resolve prognostic challenges for MSI-H/NSMP EC by identifying occult high-risk disease in EC with clinicopathologic low-risk indicators and therapeutic insensitivity in EC with clinicopathologic high-risk indicators.
    Language English
    Publishing date 2023-05-23
    Publishing country Switzerland
    Document type Journal Article
    ZDB-ID 2649216-7
    ISSN 2234-943X
    ISSN 2234-943X
    DOI 10.3389/fonc.2023.1105504
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  10. Article ; Online: Germline Mutations in 12 Genes and Risk of Ovarian Cancer in Three Population-Based Cohorts.

    Kotsopoulos, Joanne / Hathaway, Cassandra A / Narod, Steven A / Teras, Lauren R / Patel, Alpa V / Hu, Chunling / Yadav, Siddhartha / Couch, Fergus J / Tworoger, Shelley S

    Cancer epidemiology, biomarkers & prevention : a publication of the American Association for Cancer Research, cosponsored by the American Society of Preventive Oncology

    2023  Volume 32, Issue 10, Page(s) 1402–1410

    Abstract: Background: With the widespread use of multigene panel genetic testing, population-based studies are necessary to accurately assess penetrance in unselected individuals. We evaluated the prevalence of germline pathogenic or likely pathogenic variants ( ... ...

    Abstract Background: With the widespread use of multigene panel genetic testing, population-based studies are necessary to accurately assess penetrance in unselected individuals. We evaluated the prevalence of germline pathogenic or likely pathogenic variants (mutations) in 12 cancer-predisposition genes and associations with ovarian cancer risk in three population-based prospective studies [Nurses' Health Study (NHS), NHSII, Cancer Prevention Study II].
    Methods: We included women with epithelial ovarian or peritoneal cancer (n = 776) and controls who were alive and had at least one intact ovary at the time of the matched case diagnosis (n = 1,509). Germline DNA was sequenced for mutations in 12 genes. Conditional logistic regression was used to estimate odds ratios (OR) and 95% confidence intervals (CI) for ovarian cancer risk by mutation status.
    Results: The mutation frequency across all 12 genes was 11.2% in cases and 3.3% in controls (P < 0.0001). BRCA1 and BRCA2 were the most frequently mutated (3.5% and 3.8% of cases and 0.3% and 0.5% of controls, respectively) and were associated with increased ovarian cancer risk [OR, BRCA1 = 12.38; 95% confidence interval (CI) = 4.72-32.45; OR, BRCA2 = 9.18; 95% CI = 3.98-21.15]. Mutation frequencies for the other genes were ≤1.0% and only PALB2 was significantly associated with risk (OR = 5.79; 95% CI = 1.09-30.83). There was no difference in survival for women with a BRCA germline mutation versus no mutation.
    Conclusions: Further research is needed to better understand the role of other mutations in ovarian cancer among unselected populations.
    Impact: Our data support guidelines for germline genetic testing for BRCA1 and BRCA2 among women diagnosed with epithelial ovarian cancer; testing for PALB2 may be warranted.
    MeSH term(s) Humans ; Female ; Germ-Line Mutation ; Prospective Studies ; Ovarian Neoplasms/epidemiology ; Ovarian Neoplasms/genetics ; Ovarian Neoplasms/pathology ; BRCA1 Protein/genetics ; BRCA2 Protein/genetics ; Carcinoma, Ovarian Epithelial/genetics ; Genetic Testing ; Genetic Predisposition to Disease ; Breast Neoplasms/genetics
    Chemical Substances BRCA1 Protein ; BRCA2 Protein
    Language English
    Publishing date 2023-07-26
    Publishing country United States
    Document type Journal Article ; Research Support, N.I.H., Extramural ; Research Support, Non-U.S. Gov't ; Research Support, U.S. Gov't, P.H.S.
    ZDB-ID 1153420-5
    ISSN 1538-7755 ; 1055-9965
    ISSN (online) 1538-7755
    ISSN 1055-9965
    DOI 10.1158/1055-9965.EPI-23-0041
    Database MEDical Literature Analysis and Retrieval System OnLINE

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