Marc D. Tischkowitz

Cambridge, ENG, United Kingdom

Last Updated: 09/26/2026

Save publications for later

Sign Up

Not sure about your diagnosis?

Check Your Symptoms

Found 269 publications

Genomic ascertainment of PALB2-related cancer predisposition: PALB2-related cancer predisposition.

Genomic ascertainment of PALB2-related cancer predisposition: PALB2-related cancer predisposition.

Journal: medRxiv : the preprint server for health sciences

Published: April 10, 2026

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

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

Journal: American journal of human genetics

Published: March 27, 2026

Specifications of the ACMG/AMP variant curation guidelines for the analysis of germline PALB2 sequence variants.

Specifications of the ACMG/AMP variant curation guidelines for the analysis of germline PALB2 sequence variants.

Journal: American journal of human genetics

Published: March 27, 2026

Individualised progesterone receptor modulator prevention strategies for triple-negative breast cancer in BRCA1 pathogenic variant carriers.

Individualised progesterone receptor modulator prevention strategies for triple-negative breast cancer in BRCA1 pathogenic variant carriers.

Journal: NPJ breast cancer

Published: February 25, 2026

Modeling Individual-Level Uncertainty From Missing Data in Multifactorial Breast Cancer Risk Prediction.

Modeling Individual-Level Uncertainty From Missing Data in Multifactorial Breast Cancer Risk Prediction.

Journal: JCO precision oncology

Published: February 06, 2026

Predictors of early cancer burden in CDH1 pathogenic variant carriers: a UK single-centre cohort study.

Predictors of early cancer burden in CDH1 pathogenic variant carriers: a UK single-centre cohort study.

Journal: EClinicalMedicine

Published: December 07, 2025

ERN GENTURIS cancer surveillance guideline for individuals with PTEN hamartoma tumour syndrome (PHTS).

ERN GENTURIS cancer surveillance guideline for individuals with PTEN hamartoma tumour syndrome (PHTS).

Journal: European journal of human genetics : EJHG

Published: November 25, 2025

Consideration of inherited cancer risk on a continuum: An international and multidisciplinary perspective: A points to consider statement of the American College of Medical Genetics and Genomics (ACMG).

Consideration of inherited cancer risk on a continuum: An international and multidisciplinary perspective: A points to consider statement of the American College of Medical Genetics and Genomics (ACMG).

Journal: Genetics in medicine : official journal of the American College of Medical Genetics

Published: November 21, 2025

Experiences of implementation of personalised risk estimates for breast cancer in clinical practice: a systematic review and qualitative synthesis.

Experiences of implementation of personalised risk estimates for breast cancer in clinical practice: a systematic review and qualitative synthesis.

Journal: Journal of community genetics

Published: November 07, 2025

Impact of surveillance colonoscopy on colorectal cancer incidence and mortality in Lynch syndrome: a national observational cohort study of patients in the English NHS 2010-2022.

Impact of surveillance colonoscopy on colorectal cancer incidence and mortality in Lynch syndrome: a national observational cohort study of patients in the English NHS 2010-2022.

Journal: Gut

Published: October 23, 2025

Targeted Prostate Cancer Screening in Carriers of BRCA1 or BRCA2 Pathogenic Germline Variants Detects Clinically Relevant Disease: 5-year Results from the IMPACT Study.

Targeted Prostate Cancer Screening in Carriers of BRCA1 or BRCA2 Pathogenic Germline Variants Detects Clinically Relevant Disease: 5-year Results from the IMPACT Study.

Journal: European urology

Published: October 23, 2025

Contralateral breast cancer risks for BRCA1, BRCA2, PALB2, CHEK2, and ATM pathogenic variant carriers in two large cohort studies.

Contralateral breast cancer risks for BRCA1, BRCA2, PALB2, CHEK2, and ATM pathogenic variant carriers in two large cohort studies.

Journal: BJC reports

Published: September 25, 2025

Showing 1-12 of 269

Last Updated: 09/26/2026