APC gene

Algunos casos de cáncer presentan una clara causa genética bien definida. Para demostrar la existencia, de forma objetiva, de un cáncer hereditario es necesario identificar la mutación causante en un gen concreto de la línea germinal. La mayoría de los síndromes familiares se transmiten como enfermedades autosómicas dominantes y gran parte de los genes asociados a estos síndromes son genes supresores (APC en el caso de la FAP y MLH1 y MSH2 en el HNPCC). En estos casos hereditarios está recomendado el estudio genético de la familia. Las mutaciones familiares encontradas podrían ayudar a comprender el comportamiento del cáncer.

The anaphase promoting complex 7 (AtAPC7) is an APC/C subunit expressed in different organs of Arabidopsis thaliana and
conserved among eukaryotes. A variant of the complete APC7 protein, containing its C‐terminal region (named APC‐CT),
shows a high homology with a tobacco viral replication inhibitor (IVR‐like) protein that reduces plant susceptibility to RNA
viruses. Here, the role of the AtAPC7 gene was investigated by characterizing Arabidopsis plants overexpressing the full‐length
AtAPC7 (APC7OE) and the C‐terminal portion (APC7‐CTOE), by phenotypical, physiological and molecular approaches. APC7OE
plants showed improved growth of vegetative organs, earlier flowering and increased photosynthetic efficiency, CO2 assimilation
and productivity, compared with Col‐0 control plants. Conversely, APC7‐CTOE plants showed reduced susceptibility to
both RNA and DNA viruses, along with an improvement in plant growth, although not surpassing APC7OE plants. Altogether,
the data provide evidence for the role of the AtAPC7 in regulating cell division, expansion and differentiation, accompanied by
an increase in photosynthetic capacity, resulting in enhanced plant biomass and seed yield. AtAPC7‐CT might reduce growthdefence
trade‐offs, enabling plants to simultaneously defend themselves while promoting better growth. Our findings highlight
the multifunctional role of AtAPC7, unveiling the potential of its orthologous genes as valuable biotechnological tools in
important crops.

Breast fibromatosis is a benign fibroblastic proliferation accounting for less than 0.2% of breast tumors. It presents sporadically or as a manifestation of familial adenomatous polyposis (FAP). Fibromatosis in FAP may develop in patients with adenomatous polyposis coli () gene mutations at any location through the gene. Notably, there is an increased risk if mutation is downstream codon 1400. The present case report described a 33-year-old woman with recurrent bilateral breast fibromatosis after breast implants in a context of classic FAP. mutation (codon-935) was detected at the age of 16. In the same year, a thyroidectomy for a cribriform-morular papillary thyroid carcinoma (pT1) was performed. Seven years later, a prophylactic total colectomy with >100 adenomas without invasive carcinoma was performed and the patient was kept under surveillance. At the age of 30 years old, she underwent breast silicone implantation for cosmetic reasons. One year later, bilateral breast tumors...

Familial adenomatous polyposis (FAP) is an autosomal dominant hereditary syndrome characterised by the development of hundreds to thousands of adenomatous colonic polyps during the second decade of life. FAP is caused by germ line mutations in the adenomatous polyposis coli (APC) gene located on chromosome 5q21-22. A 36-year-old female was presented with 100-1000 adenomatous colonic polyps, typical of classic FAP symptoms. Genetic testing using massively parallel sequencing identified a 5-bp deletion (c.3927_3931delAAAGA) which causes frameshift (p.Glu1309Aspfs) and creates a premature stop codon, resulting in the replacement of the last 1535 amino acids of APC by five incorrect amino acids. Two of the proband's four siblings also exhibited classic FAP symptoms and carried the same 5-bp heterozygous deletion in the APC gene. One of the proband's two nephews also tested positive for this mutation but has not been examined by endoscopy due to his young age. We reported here fo...

Breast fibromatosis is a benign fibroblastic proliferation accounting for less than 0.2% of breast tumors. It presents sporadically or as a manifestation of familial adenomatous polyposis (FAP). Fibromatosis in FAP may develop in patients with adenomatous polyposis coli () gene mutations at any location through the gene. Notably, there is an increased risk if mutation is downstream codon 1400. The present case report described a 33-year-old woman with recurrent bilateral breast fibromatosis after breast implants in a context of classic FAP. mutation (codon-935) was detected at the age of 16. In the same year, a thyroidectomy for a cribriform-morular papillary thyroid carcinoma (pT1) was performed. Seven years later, a prophylactic total colectomy with >100 adenomas without invasive carcinoma was performed and the patient was kept under surveillance. At the age of 30 years old, she underwent breast silicone implantation for cosmetic reasons. One year later, bilateral breast tumors...

Algunos casos de cáncer presentan una clara causa genética bien definida. Para demostrar la existencia, de forma objetiva, de un cáncer hereditario es necesario identificar la mutación causante en un gen concreto de la línea germinal. La mayoría de los síndromes familiares se transmiten como enfermedades autosómicas dominantes y gran parte de los genes asociados a estos síndromes son genes supresores (APC en el caso de la FAP y MLH1 y MSH2 en el HNPCC). En estos casos hereditarios está recomendado el estudio genético de la familia. Las mutaciones familiares encontradas podrían ayudar a comprender el comportamiento del cáncer.

Background Germ-line mutations in DNA mismatch-repair genes (MSH2, MLH1, PMS1, PMS2, and MSH6) cause susceptibility to hereditary nonpolyposis colorectal cancer. We assessed the prevalence of MSH2 and MLH1 mutations in families suspected of having hereditary nonpolyposis colorectal cancer and evaluated whether clinical findings can predict the outcome of genetic testing. Conclusions Assessment of clinical findings can improve the rate of detection of mutations of DNA mismatch-repair genes in families suspected of having hereditary nonpolyposis colorectal cancer. (N Engl