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Article ; Online: Response to Stern.

Hanson, Helen / Astiazaran-Symonds, Esteban / Amendola, Laura M / Balmaña, Judith / Foulkes, William D / James, Paul / Klugman, Susan / Ngeow, Joanne / Schmutzler, Rita / Voian, Nicoleta / Wick, Myra J / Pal, Tuya / Tischkowitz, Marc / Stewart, Douglas R

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

2023 Volume 26, Issue 2, Page(s) 101030

Language	English
Publishing date	2023-12-29
Publishing country	United States
Document type	Letter
ZDB-ID	1455352-1
ISSN	1530-0366 ; 1098-3600
ISSN (online)	1530-0366
ISSN	1098-3600
DOI	10.1016/j.gim.2023.101030
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Article ; Online: Cancer Precision-Prevention trial of Metformin in adults with Li Fraumeni syndrome (MILI) undergoing yearly MRI surveillance: a randomised controlled trial protocol.

Dixon-Zegeye, Miriam / Shaw, Rachel / Collins, Linda / Perez-Smith, Kendra / Ooms, Alexander / Qiao, Maggie / Pantziarka, Pan / Izatt, Louise / Tischkowitz, Marc / Harrison, Rachel E / George, Angela / Woodward, Emma R / Lord, Simon / Hawkes, Lara / Evans, D Gareth / Franklin, James / Hanson, Helen / Blagden, Sarah P

Trials

2024 Volume 25, Issue 1, Page(s) 103

Abstract: Background: Li-Fraumeni syndrome (LFS) is a rare autosomal dominant disease caused by inherited or de novo germline pathogenic variants in TP53. Individuals with LFS have a 70-100% lifetime risk of developing cancer. The current standard of care ... ...

Abstract	Background: Li-Fraumeni syndrome (LFS) is a rare autosomal dominant disease caused by inherited or de novo germline pathogenic variants in TP53. Individuals with LFS have a 70-100% lifetime risk of developing cancer. The current standard of care involves annual surveillance with whole-body and brain MRI (WB-MRI) and clinical review; however, there are no chemoprevention agents licensed for individuals with LFS. Preclinical studies in LFS murine models show that the anti-diabetic drug metformin is chemopreventive and, in a pilot intervention trial, short-term use of metformin was well-tolerated in adults with LFS. However, metformin's mechanism of anticancer activity in this context is unclear. Methods: Metformin in adults with Li-Fraumeni syndrome (MILI) is a Precision-Prevention phase II open-labelled unblinded randomised clinical trial in which 224 adults aged ≥ 16 years with LFS are randomised 1:1 to oral metformin (up to 2 mg daily) plus annual MRI surveillance or annual MRI surveillance alone for up to 5 years. The primary endpoint is to compare cumulative cancer-free survival up to 5 years (60 months) from randomisation between the intervention (metformin) and control (no metformin) arms. Secondary endpoints include a comparison of cumulative tumour-free survival at 5 years, overall survival at 5 years and clinical characteristics of emerging cancers between trial arms. Safety, toxicity and acceptability of metformin; impact of metformin on quality of life; and impact of baseline lifestyle risk factors on cancer incidence will be assessed. Exploratory end-points will evaluate the mechanism of action of metformin as a cancer preventative, identify biomarkers of response or carcinogenesis and assess WB-MRI performance as a diagnostic tool for detecting cancers in participants with LFS by assessing yield and diagnostic accuracy of WB-MRI. Discussion: Alongside a parallel MILI study being conducted by collaborators at the National Cancer Institute (NCI), MILI is the first prevention trial to be conducted in this high-risk group. The MILI study provides a unique opportunity to evaluate the efficacy of metformin as a chemopreventive alongside exploring its mechanism of anticancer action and the biological process of mutated P53-driven tumourigenesis. Trial registration: ISRCTN16699730. Registered on 28 November 2022. URL: https://www.isrctn.com/ EudraCT/CTIS number 2022-000165-41.
MeSH term(s)	Adult ; Humans ; Mice ; Animals ; Li-Fraumeni Syndrome/diagnostic imaging ; Li-Fraumeni Syndrome/genetics ; Li-Fraumeni Syndrome/prevention & control ; Metformin/adverse effects ; Quality of Life ; Germ-Line Mutation ; Magnetic Resonance Imaging ; Genetic Predisposition to Disease ; Randomized Controlled Trials as Topic ; Clinical Trials, Phase II as Topic
Chemical Substances	Metformin (9100L32L2N)
Language	English
Publishing date	2024-02-03
Publishing country	England
Document type	Clinical Trial Protocol ; Journal Article
ZDB-ID	2040523-6
ISSN	1745-6215 ; 1468-6694 ; 1745-6215
ISSN (online)	1745-6215
ISSN	1468-6694 ; 1745-6215
DOI	10.1186/s13063-024-07929-w
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Article ; Online: Sporadic implementation of UK familial mammographic surveillance guidelines 15 years after original publication.

Evans, D Gareth / Edwards, Maria / Duffy, Stephen W / Tischkowitz, Marc

British journal of cancer

2019 Volume 122, Issue 3, Page(s) 329–332

Abstract: The National Institute of health and Care Excellence issued guidelines on familial breast cancer screening in 2004. Such guidelines should be uniformly implemented to ensure that members of the same family with the same level of risk, but living in ... ...

Abstract	The National Institute of health and Care Excellence issued guidelines on familial breast cancer screening in 2004. Such guidelines should be uniformly implemented to ensure that members of the same family with the same level of risk, but living in different areas, have the same access to screening. We assessed uptake by creating a short, six question online survey designed to assess compliance in each regional area. We used this to conduct a survey of all 22 regional genetics services. There was a 100% response to the survey allowing a complete map to be created. The devolved nations had near complete compliance with the sole exception of SW Scotland, but in England the picture was fragmented with regions representing a combined population of 26.6 million (48%) not implementing the full NICE recommendations. Fifteen years after the publication of the original guidelines, major inequity in provision for screening still occurs and a postcode lottery exists for the management of women from families with a history of breast cancer. We estimate that up to 73 preventable breast cancer deaths occur each year due to the current inequity of access. It may be time to consider alternative funding and implementation models to ensure consistent access across the country.
MeSH term(s)	Adult ; Breast Neoplasms/diagnostic imaging ; Breast Neoplasms/genetics ; Early Detection of Cancer/standards ; Female ; Genes, BRCA1 ; Genes, BRCA2 ; Genes, p53/genetics ; Guideline Adherence/statistics & numerical data ; Health Services Accessibility ; Heterozygote ; Humans ; Magnetic Resonance Imaging ; Mammography ; Medical History Taking ; Middle Aged ; Mutation ; Practice Guidelines as Topic ; Risk Assessment ; State Medicine ; United Kingdom
Language	English
Publishing date	2019-11-25
Publishing country	England
Document type	Journal Article ; Research Support, Non-U.S. Gov't
ZDB-ID	80075-2
ISSN	1532-1827 ; 0007-0920
ISSN (online)	1532-1827
ISSN	0007-0920
DOI	10.1038/s41416-019-0631-2
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Article ; Online: Management of individuals with germline pathogenic/likely pathogenic variants in CHEK2: A clinical practice resource of the American College of Medical Genetics and Genomics (ACMG).

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

2023 Volume 25, Issue 10, Page(s) 100870

Abstract: Purpose: Although the role of CHEK2 germline pathogenic variants in cancer predisposition is well known, resources for managing CHEK2 heterozygotes in clinical practice are limited.: Methods: An international workgroup developed guidance on clinical ... ...

Abstract	Purpose: Although the role of CHEK2 germline pathogenic variants in cancer predisposition is well known, resources for managing CHEK2 heterozygotes in clinical practice are limited. Methods: An international workgroup developed guidance on clinical management of CHEK2 heterozygotes informed by peer-reviewed publications from PubMed. Results: Although CHEK2 is considered a moderate penetrance gene, cancer risks may be considered as a continuous variable, which are influenced by family history and other modifiers. Consequently, early cancer detection and prevention for CHEK2 heterozygotes should be guided by personalized risk estimates. Such estimates may result in both downgrading lifetime breast cancer risks to those similar to the general population or upgrading lifetime risk to a level at which CHEK2 heterozygotes are offered high-risk breast surveillance according to country-specific guidelines. Risk-reducing mastectomy should be guided by personalized risk estimates and shared decision making. Colorectal and prostate cancer surveillance should be considered based on assessment of family history. For CHEK2 heterozygotes who develop cancer, no specific targeted medical treatment is recommended at this time. Conclusion: Systematic prospective data collection is needed to establish the spectrum of CHEK2-associated cancer risks and to determine yet-unanswered questions, such as the outcomes of surveillance, response to cancer treatment, and survival after cancer diagnosis.
MeSH term(s)	Male ; Humans ; United States ; Breast Neoplasms/diagnosis ; Genetic Predisposition to Disease ; Genetics, Medical ; Mastectomy ; Checkpoint Kinase 2/genetics ; Germ-Line Mutation/genetics ; Genomics
Chemical Substances	Checkpoint Kinase 2 (EC 2.7.1.11) ; CHEK2 protein, human (EC 2.7.11.1)
Language	English
Publishing date	2023-07-25
Publishing country	United States
Document type	Practice Guideline ; Research Support, N.I.H., Intramural ; Journal Article
ZDB-ID	1455352-1
ISSN	1530-0366 ; 1098-3600
ISSN (online)	1530-0366
ISSN	1098-3600
DOI	10.1016/j.gim.2023.100870
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Article ; Online: Risks of second non-breast primaries following breast cancer in women: a systematic review and meta-analysis.

Allen, Isaac / Hassan, Hend / Sofianopoulou, Eleni / Eccles, Diana / Turnbull, Clare / Tischkowitz, Marc / Pharoah, Paul / Antoniou, Antonis C

Breast cancer research : BCR

2023 Volume 25, Issue 1, Page(s) 18

Abstract: Background: Second primary cancer incidence is rising among breast cancer survivors. We examined the risks of non-breast second primaries, in combination and at specific cancer sites, through a systematic review and meta-analysis.: Methods: We ... ...

Abstract	Background: Second primary cancer incidence is rising among breast cancer survivors. We examined the risks of non-breast second primaries, in combination and at specific cancer sites, through a systematic review and meta-analysis. Methods: We conducted a systematic search of PubMed, Embase, and Web of Science, seeking studies published by March 2022. We included studies that reported standardized incidence ratios (SIRs), with associated standard errors, assessing the combined risk of second non-breast primaries following breast cancer. We performed meta-analyses of combined second primary risks, stratifying by age, follow-up duration, and geographic region. We also assessed second primary risks at several specific sites, stratifying by age. The inverse variance method with DerSimonian-Laird estimators was used in all meta-analyses, assuming a random-effects model. Associated biases and study quality were evaluated using the Newcastle-Ottawa scale. Results: One prospective and twenty-seven retrospective cohort studies were identified. SIRs for second non-breast primaries combined ranged from 0.84 to 1.84. The summary SIR estimate was 1.24 (95% CI 1.14-1.36, I Conclusions: Breast cancer survivors are at significantly increased risk of second primaries at many sites. Risks are higher for those diagnosed with breast cancer before age 50 and in Asian breast cancer survivors compared to European breast cancer survivors. This study is limited by a lack of data on potentially confounding variables. The conclusions may inform clinical management decisions following breast cancer, although specific clinical recommendations lie outside the scope of this review.
MeSH term(s)	Humans ; Female ; Middle Aged ; Breast Neoplasms/epidemiology ; Breast Neoplasms/complications ; Retrospective Studies ; Prospective Studies ; Neoplasms, Second Primary/epidemiology ; Neoplasms, Second Primary/etiology ; Incidence ; Risk Factors
Language	English
Publishing date	2023-02-10
Publishing country	England
Document type	Meta-Analysis ; Systematic Review ; Journal Article ; Research Support, Non-U.S. Gov't
ZDB-ID	2015059-3
ISSN	1465-542X ; 1465-5411
ISSN (online)	1465-542X
ISSN	1465-5411
DOI	10.1186/s13058-023-01610-x
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Article ; Online: Germline Testing in Patients With Breast Cancer: ASCO-Society of Surgical Oncology Guideline.

Bedrosian, Isabelle / Somerfield, Mark R / Achatz, Maria Isabel / Boughey, Judy C / Curigliano, Giuseppe / Friedman, Sue / Kohlmann, Wendy K / Kurian, Allison W / Laronga, Christine / Lynce, Filipa / Norquist, Barbara S / Plichta, Jennifer K / Rodriguez, Patricia / Shah, Payal D / Tischkowitz, Marc / Wood, Marie / Yadav, Siddhartha / Yao, Katherine / Robson, Mark E

Journal of clinical oncology : official journal of the American Society of Clinical Oncology

2024 Volume 42, Issue 5, Page(s) 584–604

Abstract: Purpose: To develop recommendations for germline mutation testing for patients with breast cancer.: Methods: An ASCO-Society of Surgical Oncology (SSO) panel convened to develop recommendations based on a systematic review and formal consensus ... ...

Abstract	Purpose: To develop recommendations for germline mutation testing for patients with breast cancer. Methods: An ASCO-Society of Surgical Oncology (SSO) panel convened to develop recommendations based on a systematic review and formal consensus process. Results: Forty-seven articles met eligibility criteria for the germline mutation testing recommendations; 18 for the genetic counseling recommendations. Recommendations: BRCA1
MeSH term(s)	Humans ; Female ; Breast Neoplasms/drug therapy ; Breast Neoplasms/genetics ; Breast Neoplasms/surgery ; Genetic Testing ; BRCA1 Protein/genetics ; Surgical Oncology ; BRCA2 Protein/genetics ; Neoplasm Recurrence, Local/genetics ; Germ-Line Mutation ; Risk Assessment ; Germ Cells/pathology ; Genetic Predisposition to Disease
Chemical Substances	BRCA1 protein, human ; BRCA1 Protein ; BRCA2 protein, human ; BRCA2 Protein
Language	English
Publishing date	2024-01-04
Publishing country	United States
Document type	Systematic Review ; Journal Article
ZDB-ID	604914-x
ISSN	1527-7755 ; 0732-183X
ISSN (online)	1527-7755
ISSN	0732-183X
DOI	10.1200/JCO.23.02225
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Zs.A 1847: Show issues			Location: Je nach Verfügbarkeit (siehe Angabe bei Bestand) bis Jg. 1994: Bestellungen von Artikeln über das Online-Bestellformular Jg. 1995 - 2021: Lesesall (1.OG) ab Jg. 2022: Lesesaal (EG)
Zs.MO 650: Show issues

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Article ; Online: Breast cancer risk in women with PALB2 mutations in different populations.

Antoniou, Antonis C / Foulkes, William D / Tischkowitz, Marc

The Lancet. Oncology

2015 Volume 16, Issue 8, Page(s) e375–6

MeSH term(s)	Breast Neoplasms/genetics ; Female ; Genetic Predisposition to Disease ; Humans ; Nuclear Proteins/genetics ; Tumor Suppressor Proteins/genetics
Chemical Substances	Nuclear Proteins ; Tumor Suppressor Proteins
Language	English
Publishing date	2015-09-09
Publishing country	England
Document type	Letter ; Comment
ZDB-ID	2049730-1
ISSN	1474-5488 ; 1470-2045
ISSN (online)	1474-5488
ISSN	1470-2045
DOI	10.1016/S1470-2045(15)00002-9
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Zs.A 5696: Show issues			Location: Je nach Verfügbarkeit (siehe Angabe bei Bestand) bis Jg. 1994: Bestellungen von Artikeln über das Online-Bestellformular Jg. 1995 - 2021: Lesesall (2.OG) ab Jg. 2022: Lesesaal (EG)
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Article: Personalised Risk Prediction in Hereditary Breast and Ovarian Cancer: A Protocol for a Multi-Centre Randomised Controlled Trial.

Archer, Stephanie / Fennell, Nichola / Colvin, Ellen / Laquindanum, Rozelle / Mills, Meredith / Dennis, Romy / Stutzin Donoso, Francisca / Gold, Rochelle / Fan, Alice / Downes, Kate / Ford, James / Antoniou, Antonis C / Kurian, Allison W / Evans, D Gareth / Tischkowitz, Marc

Cancers

2022 Volume 14, Issue 11

Abstract: Women who test positive for an inherited pathogenic/likely pathogenic gene variant ... ...

Abstract	Women who test positive for an inherited pathogenic/likely pathogenic gene variant in
Language	English
Publishing date	2022-05-31
Publishing country	Switzerland
Document type	Journal Article
ZDB-ID	2527080-1
ISSN	2072-6694
ISSN	2072-6694
DOI	10.3390/cancers14112716
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Article ; Online: Molecular Genetic Characteristics of

Genes

2023 Volume 14, Issue 2

Abstract: ... ...

Abstract	FANCI
MeSH term(s)	Female ; Humans ; Fanconi Anemia Complementation Group Proteins/genetics ; Genes, BRCA2 ; Genetic Predisposition to Disease ; Molecular Biology ; Mutation ; Ovarian Neoplasms/genetics
Chemical Substances	FANCI protein, human ; Fanconi Anemia Complementation Group Proteins
Language	English
Publishing date	2023-01-20
Publishing country	Switzerland
Document type	Journal Article ; Research Support, Non-U.S. Gov't
ZDB-ID	2527218-4
ISSN	2073-4425 ; 2073-4425
ISSN (online)	2073-4425
ISSN	2073-4425
DOI	10.3390/genes14020277
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Article ; Online: Risk of developing a second primary cancer in male breast cancer survivors: a systematic review and meta-analysis.

Allen, Isaac / Hassan, Hend / Sofianopoulou, Eleni / Eccles, Diana / Turnbull, Clare / Tischkowitz, Marc / Pharoah, Paul / Antoniou, Antonis C

British journal of cancer

2022 Volume 127, Issue 9, Page(s) 1660–1669

Abstract: Background: With increasing survival after cancer diagnoses, second primary cancers (SPCs) are becoming more prevalent. We investigated the incidence and site of non-breast SPC risks following male breast cancer (BC).: Methods: PubMed, Embase and Web ...

Abstract	Background: With increasing survival after cancer diagnoses, second primary cancers (SPCs) are becoming more prevalent. We investigated the incidence and site of non-breast SPC risks following male breast cancer (BC). Methods: PubMed, Embase and Web of Science were systematically searched for studies reporting standardised incidence ratios (SIRs) for SPCs published by March 2022. Meta-analyses used the generic inverse-variance method, assuming a random-effects model. We evaluated SIRs for overall SPCs, site-specific risks, by age at BC onset, time since BC onset and geographic region. We assessed study quality using routine techniques. Results: Eight population-based retrospective cohort studies were identified. SIRs ranged from 1.05 to 2.17. The summary SIR estimate was 1.27 (95% CI: 1.03-1.56, I Conclusions: Male BC survivors are at elevated risks of developing second primary colorectal, pancreatic and thyroid cancers. The estimates may assist their clinical management and guide decisions on genetic testing.
MeSH term(s)	Male ; Humans ; Middle Aged ; Neoplasms, Second Primary/epidemiology ; Neoplasms, Second Primary/etiology ; Retrospective Studies ; Breast Neoplasms, Male/epidemiology ; Breast Neoplasms, Male/complications ; Survivors ; Incidence ; Colorectal Neoplasms/complications ; Risk Factors
Language	English
Publishing date	2022-09-17
Publishing country	England
Document type	Meta-Analysis ; Systematic Review ; Journal Article ; Research Support, Non-U.S. Gov't
ZDB-ID	80075-2
ISSN	1532-1827 ; 0007-0920
ISSN (online)	1532-1827
ISSN	0007-0920
DOI	10.1038/s41416-022-01940-1
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