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

American journal of human genetics, 2016-05, Vol.98 (5), p.801-817

2016

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Cancer Genomics and Inherited Risk

Journal of clinical oncology, 2014-03, Vol.32 (7), p.687-698

2014

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

Nature genetics, 2013-10, Vol.45 (10), p.1226-1231

2013

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Germline Variants in Targeted Tumor Sequencing Using Matched Normal DNA

JAMA oncology, 2016-01, Vol.2 (1), p.104

2016

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Defining the heterogeneity of unbalanced structural variation underlying breast cancer susceptibility by nanopore genome sequencing

European journal of human genetics : EJHG, 2023-05, Vol.31 (5), p.602-606

2023

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

Health expectations : an international journal of public participation in health care and health policy, 2020-08, Vol.23 (4), p.884-892

2020

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

Genetics in medicine, 2020-11, Vol.22 (11), p.1892-1897

2020

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

PloS one, 2009-11, Vol.4 (11), p.e7988

2009

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Development and early‐stage evaluation of a patient portal to enhance familial communication about hereditary cancer susceptibility testing: A patient‐driven approach

Health expectations : an international journal of public participation in health care and health policy, 2023-04, Vol.26 (2), p.774-784

2023

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Whole genome and transcriptome integrated analyses guide clinical care of pediatric poor prognosis cancers

Nature communications, 2024-05, Vol.15 (1), p.4165-4165, Article 4165

2024

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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

BMC cancer, 2018-03, Vol.18 (1), p.254-254, Article 254

2018

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Oncology Clinic-Based Hereditary Cancer Genetic Testing in a Population-Based Health Care System

Cancers, 2020-02, Vol.12 (2), p.338

2020

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

NPJ breast cancer, 2017-06, Vol.3 (1), p.22-10, Article 22

2017

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Assessment of SLX4 Mutations in Hereditary Breast Cancers

PloS one, 2013-06, Vol.8 (6), p.e66961-e66961

2013

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Parent-of-origin detection and chromosome-scale haplotyping using long-read DNA methylation sequencing and Strand-seq

Cell genomics, 2023-01, Vol.3 (1), p.100233-100233, Article 100233

2023

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Gynecologic Cancer Risk and Genetics: Informing an Ideal Model of Gynecologic Cancer Prevention

Current oncology (Toronto), 2022-06, Vol.29 (7), p.4632-4646

2022

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Susceptibility loci associated with specific and shared subtypes of lymphoid malignancies

PLoS genetics, 2013-01, Vol.9 (1), p.e1003220-e1003220

2013

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Burden of hereditary cancer susceptibility in unselected patients with pancreatic ductal adenocarcinoma referred for germline screening

Cancer medicine (Malden, MA), 2020-06, Vol.9 (11), p.4004-4013

2020

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Matching methods in precision oncology: An introduction and illustrative example

Molecular genetics & genomic medicine, 2021-01, Vol.9 (1), p.e1554-n/a

2021

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Clinical and cost outcomes following genomics‐informed treatment for advanced cancers

Cancer medicine (Malden, MA), 2021-08, Vol.10 (15), p.5131-5140

2021

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

Hereditary cancer in clinical practice, 2018-03, Vol.16 (1), p.7-7, Article 7

2018

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

Urologic oncology, 2016-05, Vol.34 (5), p.238.e1-238.e7

2016

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

Cancer Genomics and Inherited Risk

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

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

Germline Variants in Targeted Tumor Sequencing Using Matched Normal DNA

Defining the heterogeneity of unbalanced structural variation underlying breast cancer susceptibility by nanopore genome sequencing

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

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

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

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

Development and early‐stage evaluation of a patient portal to enhance familial communication about hereditary cancer susceptibility testing: A patient‐driven approach

Whole genome and transcriptome integrated analyses guide clinical care of pediatric poor prognosis cancers

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

Oncology Clinic-Based Hereditary Cancer Genetic Testing in a Population-Based Health Care System

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

Genetics Adviser: a protocol for a mixed-methods randomised controlled trial evaluating a digital platform for genetics service delivery

Assessment of SLX4 Mutations in Hereditary Breast Cancers

Parent-of-origin detection and chromosome-scale haplotyping using long-read DNA methylation sequencing and Strand-seq

Gynecologic Cancer Risk and Genetics: Informing an Ideal Model of Gynecologic Cancer Prevention

Susceptibility loci associated with specific and shared subtypes of lymphoid malignancies

Burden of hereditary cancer susceptibility in unselected patients with pancreatic ductal adenocarcinoma referred for germline screening

Matching methods in precision oncology: An introduction and illustrative example

Clinical and cost outcomes following genomics‐informed treatment for advanced cancers

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

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

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