ArticleFamilial cancer2010
Frequency of extracolonic tumors in Brazilian families with Lynch syndrome: analysis of a hereditary colorectal cancer institutional registry.
Article in Familial cancer, 2010. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 21 papers, 1 of them a synthesis that pooled it.
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Who cites it
21 citing papers in PubMed, 1 synthesis or guideline pooled it, 42 citations in OpenAlex.
- Characterization of sebaceous and non-sebaceous cutaneous manifestations in patients with lynch syndrome: a systematic review.Familial cancer · 2023Pooled it
- An Unusual Presentation of Synchronous Breast Cancer and Skin Malignancy in a Patient with Lynch Syndrome: A Case Report and Review of the Literature.Biomedicines · 2024Article
- Article
- 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
- Investigating the Link between Lynch Syndrome and Breast Cancer.European journal of breast health · 2020Article
- Germline MLH1, MSH2 and MSH6 variants in Brazilian patients with colorectal cancer and clinical features suggestive of Lynch Syndrome.Cancer medicine · 2018Article
- Towards gene- and gender-based risk estimates in Lynch syndrome; age-specific incidences for 13 extra-colorectal cancer types.British journal of cancer · 2017Article
- DNA mismatch repair deficiency and hereditary syndromes in Latino patients with colorectal cancer.Cancer · 2017Article
- Spectrum of mismatch repair gene mutations and clinical presentation of Hispanic individuals with Lynch syndrome.Cancer genetics · 2017Article
- Colorectal cancer in the young, many questions, few answers.World journal of gastrointestinal oncology · 2016Review
- Frequent mismatch-repair defects link prostate cancer to Lynch syndrome.BMC urology · 2016Article
- A novel deleterious c.2656G>T MSH2 germline mutation in a Pakistani family with a phenotypic overlap of hereditary breast and ovarian cancer and Lynch syndrome.Hereditary cancer in clinical practice · 2016Article
- MLH1 Ile219Val Polymorphism in Argentinean Families with Suspected Lynch Syndrome.Frontiers in oncology · 2016Article
- Lynch syndrome and cervical cancer.International journal of cancer · 2015Article
- Oral manifestations of hereditary nonpolyposis colorectal cancer syndrome: a family case series.Journal of medical case reports · 2014Article
- Mutation spectrum in South American Lynch syndrome families.Hereditary cancer in clinical practice · 2013Article
- Elevated risk of prostate cancer among men with Lynch syndrome.Journal of clinical oncology : official journal of the American Society of Clinical Oncology · 2013Article
- Cancer spectrum in DNA mismatch repair gene mutation carriers: results from a hospital based Lynch syndrome registry.Familial cancer · 2012Article
- Breast carcinoma and Lynch syndrome: molecular analysis of tumors arising in mutation carriers, non-carriers, and sporadic cases.Breast cancer research : BCR · 2012Article
- Extracolonic manifestations of lynch syndrome.Clinics in colon and rectal surgery · 2012Article
Corrections and comments
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Authors and funding
8 authors at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Lynch syndrome (LS) is caused by inherited germline mutations in mismatch repair (MMR) genes. It is one of the commonest forms of inherited predisposition to colorectal cancer (CRC), accounting for 2-5% of all CRC. LS is characterized by early age of onset, with a tendency for multiplicity and an increased risk for extra-colonic tumors at particular sites. In this study we have evaluated the frequency of extra-colonic tumors in 60 unrelated LS families fulfilling the Amsterdam criteria (ACI. ACII) from the Oncotree database of the Hereditary Colorectal Cancer Registry of the AC Camargo Hospital. All families' pedigree was extensively analyzed, varying from 2 to 6 generations with a total of 2,095 individuals evaluated. As expected, colorectal cancer was the most frequent tumor in the families (334 cases). We found 200 extracolonic tumors among all individuals with a higher ratio in women (123 cases) than men (77 cases). By far, breast cancer (32 cases) was the most frequent extracolonic manifestation in women followed by endometrial (20 cases) and uterine cervix cancer (20 cases). For man, prostate (16 cases) and stomach (12 cases) cancer were the most frequent extracolonic tumors. It is well know that establishing the diagnosis is challenging and requires knowledge and surveillance. Thus, recognition of individuals and families with hereditary predisposition to cancer according to clinical and molecular features, combined with intensive surveillance and management programs, can contribute substantially to improve results related to the diagnosis and characterization of LS.
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