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List of works by Kasmintan A Schrader

453 THE ASSOCIATION OF GENITOURINARY CANCERS WITH BRCA CARRIER STATUS IN A CLINICALLY TESTED COHORT FROM A SINGLE INSTITUTION

A Recurrent ERCC3 Truncating Mutation Confers Moderate Risk for Breast Cancer

scientific article

A population-based analysis of germline BRCA1 and BRCA2 testing among ovarian cancer patients in an era of histotype-specific approaches to ovarian cancer prevention.

scientific article published on 5 March 2018

A recessive founder mutation in regulator of telomere elongation helicase 1, RTEL1, underlies severe immunodeficiency and features of Hoyeraal Hreidarsson syndrome

scientific article

A recurrent germline PAX5 mutation confers susceptibility to pre-B cell acute lymphoblastic leukemia

scientific article

Absence of loss of heterozygosity of BRCA1 in a renal tumor from a BRCA1 germline mutation carrier

scientific article published on March 2013

Abstract 1291: High and moderate penetrance germline mutations in a number of genes are responsible for a small proportion of familial breast cancer risk in BRCAx families

article

Abstract 2378: Harmonization of next generation sequencing data within consortia for gene discovery in familial breast cancer

article

Abstract 3282: Determination of cancer susceptibility in probands with breast and ovarian cancer

article published in 2014

Abstract B81: Gene expression analysis demonstrates prognostic subtypes in metastatic pancreatic ductal adenocarcinoma (PDAC)

article

An analysis of the association between prostate cancer risk loci, PSA levels, disease aggressiveness and disease-specific mortality

scientific article

Assessment of SLX4 Mutations in Hereditary Breast Cancers

scientific article

BRCA Mutation Testing for First-Degree Relatives of Women With High-Grade Serous Ovarian Cancer [4OP]

CDKN2A founder mutation in pancreatic ductal adenocarcinoma patients without cutaneous features of Familial Atypical Multiple Mole Melanoma (FAMMM) syndrome

scientific article published on 7 March 2018

COMPLEXO: identifying the missing heritability of breast cancer via next generation collaboration

scientific article published on 21 June 2013

Cancer genomics and inherited risk

scientific article published on 21 January 2014

Cancer susceptibility mutations in individuals with breast and ovarian cancer using next-generation sequencing

Case-control analysis identifies shared properties of rare germline variation in cancer predisposing genes

article

Clinical features and management of BRCA1 and BRCA2-associated prostate cancer

scientific article published on January 2014

Collaborative science in the next-generation sequencing era: a viewpoint on how to combine exome sequencing data across sites to identify novel disease susceptibility genes

scientific article

Comprehensive genomic analysis in metastatic pancreatic ductal adenocarcinoma (PDAC)

Description and pilot results from a novel method for evaluating return of incidental findings from next-generation sequencing technologies

scientific article published on 04 April 2013

Establishing a Framework for the Clinical Translation of Germline Findings in Precision Oncology

scientific article published on 29 May 2020

Evaluating the impact of universal Lynch syndrome screening in a publicly funded healthcare system

scientific article published on 23 July 2020

Evaluation of ACMG-Guideline-Based Variant Classification of Cancer Susceptibility and Non-Cancer-Associated Genes in Families Affected by Breast Cancer

scientific article published on May 2016

Evaluation of a decision aid for incidental genomic results, the Genomics ADvISER: protocol for a mixed methods randomised controlled trial

scientific article published on 26 April 2018

Evolution of genetic assessment for BRCA-associated gynaecologic malignancies: a Canadian multisociety roadmap

article

Expression of a constitutively active mutant of M-Ras in normal bone marrow is sufficient for induction of a malignant mastocytosis/mast cell leukemia, distinct from the histiocytosis/monocytic leukemia induced by expression of activated H-Ras.

scientific article published on March 2005

Fetal progeria: prenatal sonographic findings in petty syndrome

scientific article published in May 2013

Genetic testing for hereditary cancer syndromes: patient recommendations for improved risk communication

scientific article published on 27 April 2020

Genetic testing in gastrointestinal cancers: a case-based approach.

scientific article published on May 2012

Genitourinary Cancers Other than Prostate Cancer in a BRCA-tested Cohort from a Single Institution

scientific article published on 14 January 2015

Genomic profiling of pelvic genital type leiomyosarcoma in a woman with a germline CHEK2:c.1100delC mutation and a concomitant diagnosis of metastatic invasive ductal breast carcinoma

scientific article published on 16 May 2017

Germline BRCA1 and BRCA2 Mutations in Ovarian Cancer

scientific article published on 01 August 2012

Germline ETV6 Mutations Confer Susceptibility to Acute Lymphoblastic Leukemia and Thrombocytopenia

scientific article

Germline Variants in Targeted Tumor Sequencing Using Matched Normal DNA.

scientific article

Germline mutations in CDH1 are infrequent in women with early-onset or familial lobular breast cancers.

scientific article

Hereditary Diffuse Gastric Cancer

article published in 2010

Hereditary Diffuse Gastric Cancer Syndrome: CDH1 Mutations and Beyond

scientific article published on April 2015

Hereditary diffuse gastric cancer: association with lobular breast cancer

scientific article

Homologous Recombination Deficiency and Platinum-Based Therapy Outcomes in Advanced Breast Cancer

scientific article published in December 2017

How to Screen for Hereditary Cancers in General Pathology Practice

scientific article published in September 2016

Improved structural variant interpretation for hereditary cancer susceptibility using long-read sequencing

scientific article published on 06 July 2020

Inherited mutations in breast cancer patients with and without multiple primary cancers

Lessons learned from the application of whole-genome analysis to the treatment of patients with advanced cancers

scientific article published on October 2015

MP36-06 UTILITY OF PROSPECTIVE PATHOLOGIC EVALUATION TO INFORM CLINICAL GENETIC TESTING FOR HEREDITARY LEIOMYOMATOSIS AND RENAL CELL CARCINOMA

MP61-05 PILOT INVESTIGATION OF VARIANTS IN DNA REPAIR PATHWAYS AND ASSOCIATION WITH RESPONSE TO PLATINUM-BASED CHEMOTHERAPY IN BLADDER CANCER

Management of germline findings revealed throughout the course of tumor-normal whole genome sequencing in oncology

Molecular characterisation of metastatic pancreatic neuroendocrine tumours (PNETs) using whole genome and transcriptome sequencing.

scientific article published in November 2017

Multiple granular cell tumors are an associated feature of LEOPARD syndrome caused by mutation in PTPN11

scientific article

Outcome of genetic evaluation of patients with kidney cancer referred for suspected hereditary cancer syndromes

scientific article published on 23 December 2015

PD10-05 OUTCOME OF GENETIC EVALUATION OF KIDNEY CANCER PATIENTS REFERRED FOR SUSPECTED HEREDITARY CANCER SYNDROMES

Point Mutations in Exon 1B of APC Reveal Gastric Adenocarcinoma and Proximal Polyposis of the Stomach as a Familial Adenomatous Polyposis Variant

scientific article

Prevalence of HOXB13 mutation in a population of Ashkenazi Jewish men treated for prostate cancer

scientific article published on December 2013

Rare APC promoter 1B variants in gastric cancer kindreds unselected for fundic gland polyposis

scientific article published on 07 September 2020

Rare de novo germline copy-number variation in testicular cancer

scientific article published on 2 August 2012

Renal–hepatic–pancreatic dysplasia: An autosomal recessive condition that is not linked to thePKHD1 gene on chromosome 6p21.1-p12

article

Response to angiotensin blockade with irbesartan in a patient with metastatic colorectal cancer.

scientific article published on 18 February 2016

Severe Late Toxicity After Adjuvant Breast Radiotherapy in a Patient with a Germline Ataxia Telangiectasia Mutated Gene: Future Treatment Decisions

scientific article

Specifications of the ACMG/AMP variant curation guidelines for the analysis of germline CDH1 sequence variants

scientific article published on 01 November 2018

Testing for Hereditary Predisposition in Patients with Gynecologic Cancers, Quo Vadis?

scientific article published on 11 April 2016

The Genomics ADvISER: development and usability testing of a decision aid for the selection of incidental sequencing results

The Role of Hereditary Factors in Ovarian Carcinoma

scientific article published on 5 October 2017

The contribution of pathogenic variants in breast cancer susceptibility genes to familial breast cancer risk

scientific article

The cost and cost trajectory of whole-genome analysis guiding treatment of patients with advanced cancers.

scientific article published on 12 March 2017

The specificity of the FOXL2 c.402C>G somatic mutation: a survey of solid tumors

scientific article

Treatment outcomes for patients (Pts) with metastatic castration resistant prostate cancer (mCRPC) pts and DNA damage repair gene mutations

article

Using next-generation sequencing for the diagnosis of rare disorders: a family with retinitis pigmentosa and skeletal abnormalities

scientific article published in September 2011

Utility of prospective pathologic evaluation to inform clinical genetic testing for hereditary leiomyomatosis and renal cell carcinoma

scientific article published on 7 February 2017

Whole genome and whole transcriptome genomic profiling of a metastatic eccrine porocarcinoma.

scientific article

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