Increased risk of breast cancer among female relatives of patients with ataxia-telangiectasia: a causal relationship?

D'Almeida, Alice; Cavaciuti, Eve; Dondon, Marie-Gabrielle; Laugé, Anthony; Janin, Nicolas; Stoppa‐Lyonnet, Dominique; Andrieu, Nadine

doi:10.1038/sj.bjc.6602786

Cited by 8 publications

(2 citation statements)

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“…We will correct for bias by the selective testing of survivors and/or relatives affected by cancer among families, if any. Indeed, the over genotyping of cases may bias towards the null hypothesis within the categories of relatives with an unknown genotype [37].…”

Section: Discussionmentioning

confidence: 99%

TUMOSPEC: A Nation-Wide Study of Hereditary Breast and Ovarian Cancer Families with a Predicted Pathogenic Variant Identified through Multigene Panel Testing

Lesueur

Eon-Marchais

Bonnet-Boissinot

et al. 2021

Cancers

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Assessment of age-dependent cancer risk for carriers of a predicted pathogenic variant (PPV) is often hampered by biases in data collection, with a frequent under-representation of cancer-free PPV carriers. TUMOSPEC was designed to estimate the cumulative risk of cancer for carriers of a PPV in a gene that is usually tested in a hereditary breast and ovarian cancer context. Index cases are enrolled consecutively among patients who undergo genetic testing as part of their care plan in France. First- and second-degree relatives and cousins of PPV carriers are invited to participate whether they are affected by cancer or not, and genotyped for the familial PPV. Clinical, family and epidemiological data are collected, and all data including sequencing data are centralized at the coordinating centre. The three-year feasibility study included 4431 prospective index cases, with 19.1% of them carrying a PPV. When invited by the coordinating centre, 65.3% of the relatives of index cases (5.7 relatives per family, on average) accepted the invitation to participate. The study logistics were well adapted to clinical and laboratory constraints, and collaboration between partners (clinicians, biologists, coordinating centre and participants) was smooth. Hence, TUMOSPEC is being pursued, with the aim of optimizing clinical management guidelines specific to each gene.

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Section: Discussionmentioning

confidence: 99%

TUMOSPEC: A Nation-Wide Study of Hereditary Breast and Ovarian Cancer Families with a Predicted Pathogenic Variant Identified through Multigene Panel Testing

Lesueur

Eon-Marchais

Bonnet-Boissinot

et al. 2021

Cancers

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show abstract

“…Therefore, cohorts of A-T patients and their families who have been followed for several decades are highly informative to assess cancer risk of HetATM [21][22][23][24][25][26]17,27,14,13,28]. In these studies, estimated breast cancer relative risks ranged from 2 to about 5; the risk may vary depending on the location of the variant along the gene sequence [25].…”

Section: Cancer Risk In Ataxia-telangiectasia Familiesmentioning

confidence: 99%

First international workshop of the ATM and cancer risk group (4-5 December 2019)

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2021

Familial Cancer

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Other Hereditary Breast Cancer Syndromes and Genes

Nathanson

2009

The Role of Genetics in Breast and Reproductive Cancers

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Increased risk of breast cancer among female relatives of patients with ataxia-telangiectasia: a causal relationship?

Abstract: International audienc

Cited by 8 publications

References 7 publications

TUMOSPEC: A Nation-Wide Study of Hereditary Breast and Ovarian Cancer Families with a Predicted Pathogenic Variant Identified through Multigene Panel Testing

TUMOSPEC: A Nation-Wide Study of Hereditary Breast and Ovarian Cancer Families with a Predicted Pathogenic Variant Identified through Multigene Panel Testing

First international workshop of the ATM and cancer risk group (4-5 December 2019)

Other Hereditary Breast Cancer Syndromes and Genes

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