ArticleBreast cancer research : BCR2012
Breast carcinoma and Lynch syndrome: molecular analysis of tumors arising in mutation carriers, non-carriers, and sporadic cases.
Article in Breast cancer research : BCR, 2012. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 28 papers, 1 of them a synthesis that pooled it.
What it found
Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.
The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.
Who cites it
28 citing papers in PubMed, 1 synthesis or guideline pooled it, 45 citations in OpenAlex.
- Risk of breast cancer in Lynch syndrome: a systematic review.Breast cancer research : BCR · 2013Pooled it
- Breast cancer and rectal cancer associated with Lynch syndrome: A case report.World journal of clinical oncology · 2024Article
- Mismatch repair protein deficiency in triple-negative breast carcinomas.The Journal of international medical research · 2024Article
- Hormone Receptor-Positive Breast Cancer Sensitive to Pembrolizumab: Evidence of the Pathogenicity of the MLH1 Variant 1835del3.Journal of the National Comprehensive Cancer Network : JNCCN · 2023Article
- Microsatellite instability in noncolorectal and nonendometrial malignancies in patients with Lynch syndrome.Journal of the National Cancer Institute · 2023Article
- Genetic insights: High germline variant rate in an indigenous African cohort with early-onset colorectal cancer.Frontiers in oncology · 2023Article
- Microsatellite Instability: From the Implementation of the Detection to a Prognostic and Predictive Role in Cancers.International journal of molecular sciences · 2022Review
- Morphologic and Genomic Characteristics of Breast Cancers Occurring in Individuals with Lynch Syndrome.Clinical cancer research : an official journal of the American Association for Cancer Research · 2022Article
- How Should We Test for Lynch Syndrome? A Review of Current Guidelines and Future Strategies.Cancers · 2021Review
- Mismatch Repair Deficiency and Microsatellite Instability in Triple-Negative Breast Cancer: A Retrospective Study of 440 Patients.Frontiers in oncology · 2021Article
- Spectrum and Frequency of Tumors, Cancer Risk and Survival in Chilean Families with Lynch Syndrome: Experience of the Implementation of a Registry.Journal of clinical medicine · 2020Article
- Oncogenic Potential of Bisphenol A and Common Environmental Contaminants in Human Mammary Epithelial Cells.International journal of molecular sciences · 2020Article
- Does breast carcinoma belong to the Lynch syndrome tumor spectrum? - Somatic mutational profiles vs. ovarian and colorectal carcinomas.Oncotarget · 2020Article
- The Endocrine Disruptor Bisphenol A (BPA) Exerts a Wide Range of Effects in Carcinogenesis and Response to Therapy.Current molecular pharmacology · 2019Review
- The Importance of Distinguishing Sporadic Cancers from Those Related to Cancer Predisposing Germline Mutations.The oncologist · 2018Article
- MSH6 and PMS2 germ-line pathogenic variants implicated in Lynch syndrome are associated with breast cancer.Genetics in medicine : official journal of the American College of Medical Genetics · 2018Article
- Tumor development in Japanese patients with Lynch syndrome.PloS one · 2018Article
- Multigene Panel Testing Provides a New Perspective on Lynch Syndrome.Journal of clinical oncology : official journal of the American Society of Clinical Oncology · 2017Article
- Article
- Update on Lynch syndrome genomics.Familial cancer · 2016Review
Corrections and comments
- Commented on by
Authors and funding
12 authors at 3 institutions in 2 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
introductionBreast carcinoma is the most common cancer in women, but its incidence is not increased in Lynch syndrome (LS) and studies on DNA mismatch repair deficiency (MMR) in LS-associated breast cancers have arrived at conflicting results. This study aimed to settle the question as to whether breast carcinoma belongs to the LS tumor spectrum.
methodsMMR status and epigenetic profiles were determined for all available breast carcinomas identified among 200 LS families from a nation-wide registry (23 tumors from mutation carriers and 18 from non-carriers). Sporadic breast carcinomas (n = 49) and other cancers (n = 105) from MMR gene mutation carriers were studied for comparison.
resultsThe proportion of breast carcinomas that were MMR-deficient based on absent MMR protein, presence of microsatellite instability, or both was significantly (P = 0.00016) higher among breast carcinomas from mutation carriers (13/20, 65%) compared to non-carriers (0/14, 0%). While the average age at breast carcinoma diagnosis was similar in carriers (56 years) and non-carriers (54 years), it was lower for MMR-deficient versus proficient tumors in mutation carriers (53 years versus 61 years, P = 0.027). Among mutation carriers, absent MMR protein was less frequent in breast carcinoma (65%) than in any of seven other tumor types studied (75% to 100%). Tumor suppressor promoter methylation patterns were organ-specific and similar between breast carcinomas from mutation carriers and non-carriers.
conclusionsBreast carcinoma from MMR gene mutation carriers resembles common breast carcinoma in many respects (for example, general clinicopathological and epigenetic profiles). MMR status makes a distinction: over half are MMR-deficient typical of LS spectrum tumors, while the remaining subset which is MMR-proficient may develop differently. The results are important for appropriate surveillance in mutation carriers and may be relevant for LS diagnosis in selected cases.
Indexed as
Identifiers
What OpenQuestion holds
Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.