Colorectal cancer genetics

Hereditary Colorectal Cancer: Laura Valle · | Books Express Colon cancer genetic factors

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Chirilă, 1Nicolae A. Turdeanu, 1Nicolae A. Pop, 4Cătălina I. Cancer is a major public health problem in many parts of the world.

Nowadays, one in 4 deaths in the United States is due to cancer. A total of 1, new cancer cases anddeaths from cancer were projected to occur in the United States in by the American Cancer Society. The published data showed an overall cancer incidence rates stable in men in the most recent time period, after decreasing by 1.

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Lynch Syndrome, known also as Hereditary nonpolyposis colorectal cancer HNPCCis a syndrome that associates many malig- nant tumors, transmitted in an autosomal dominant inheritance. The syndrome was described in by Henry T.

Lynch who analysed two separate midwestern American families with a colorectal cancer genetics predisposition to various cancers, even colorectal cancer genetics the associa- tion of different cancers was originally described inby Warthin, who observed colorectal cancer genetics inherited predisposition to cancers of the colorectal cancer genetics, stomach, and endometrium Warthincited by Geiersbach and Samowitz Material and method We analyse a family in which were diagnosed a lot of primary malignant tumors.


It was not performed a genetic test for iden- tifying if there is any of known mismatch repair genes mutated in a Lynch syndrome. We consider that with such association of malignant tumors, according to the Amsterdam criteria, the members of this family may be affected by this familial can- cer syndrome. There were 9 family members diagnosed and treated for malig- nant tumors 4 men and 5 women in three successive genera- tions. Totally in the whole family extended, the most com- mon cancer met, was a large bowel one, found in 8 individuals 4 men and 4 women.

1.4 Colon cancer pathogenesis - gene mutations

A proximal location was colorectal cancer genetics in one patient, the others had usually a sigmoid colorectal cancer genetics. Another cancer the second primary associated with HNPCC tumors was found in two patients, both women: a gastric one developed late in life at the age of 78 yearsafter 16 years, and an endometrial one developed 19 years after a colon cancer.

Another patient, mem- colorectal cancer genetics of this family, was diagnosed with a benign brain tumor, few years after the large bowel cancer. Also, the patient CN, devel- oped another tumor located on the large bowel, two years after a previous one, located on the sigmoid colon. At that time, the Abstract. Objective: We present the clinical data of a family with a multiple cancer syndrome.

Material and Colorectal cancer genetics we made a chart of this family and analysed the clinical data offered by some members of the family; the genetic tests were not available for the members of the family.

Colorectal cancer genes involved

Results: The evolution of the cancers was good but not in all the cases. Many of them are alive, and in good condition. Key Words: multiple cancer syndrome, familial agregation, survival. Copyright: This is an open-access article distributed under the terms of the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original author and source are credited.

Corresponding Author: D. Chirilă, dacianachirila gmail. The patient diagnosed with a single endometrial cancer died because of cancer disease one year later. Five members of this family are still alive.

Colon cancer genetic factors, Cancer colorectal non-polipozic ereditar tip 5 (HNPCC) – mutaţii MSH6

The patient OM suffered also a bilat- eral adnexectomy because of ovarian cyst and an extrauterine pregnancy and was diagnosed with gastritis Helicobacter pylori positive; she is submitted to a yearly medical control especial- ly for a possible another large bowel, genital, gastric or renal cancer. The patient CN was diagnosed with renal stones and is under medical treatment. Our family may be incorporated in a Lynch II syndrome, because of the associated cancers of HNPCC en- dometrial cancer in two women, one of them being the second malignant tumor, and a gastric cancer, also the second malig- nant primary in another woman.

The most frequently types of other cancers are endometrial, ovarian and gastric can- cers; also colorectal cancer genetics appear cancers of the small intestine, hepatobil- iary tract, urinary tract, brain, and skin.

Colon cancer genetic factors, Cancer colorectal non-polipozic ereditar tip 5 (HNPCC) – mutaţii MSH6

Lynch syndrome is the most common form of hereditary colorectal cancer Lynch and Lynch Risk of endometrial cancer in women with Lynch syndrome is as high as the risk of colorectal cancer Manchanda et al In general population the lifetime risk for endome- trial cancer is 1.

Other authors observed lower percentages of lifetime risk of colorectal cancers in men Figure 1.

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In addition, in Lynch syndrome cancer is more likely to be diagnosed at a young age 45 yearsas compared with the average age of 72 for a new diagnosis of colorectal cancer in the pancreatic cancer risks popula- tion.

The human genome has many strategies in order to protect large bowel ep- ithelial stem cells to accumulate genomic errors. Tumorigenesis in autosomal dominant familial adenomatous polyposis FAP is caused by mutations in the tumor supessor APC gene located on long arm q of chromosome 5 5q ; Nishisho et colorectal cancer genetics with an increased risk to develop colorectal cancer, and in autosomal recessive MUTYH-associated polypo- sis MAP gene, which is colorectal cancer genetics on the short p arm of chro- mosome 1 1p In Lynch syndromes the particularity is the microsatellite in- stability MSI.

Functia acestor gene poate fi perturbata de deletii, insertii sau rearanjamente genomice mari. O mutatie care inactiveaza gena MMR duce la acumularea de mutatii celulare si creste foarte mult probabilitatea de transformare maligna. Deoarece penetranta mutatiilor este incompleta, aceste anomalii genetice predispun indivizii la cancer, dar nu toti cei care le mostenesc dezvolta tumori. Mutatiile sunt adesea mostenite, dar pot aparea, de asemenea, de novo intr-o generatie. Acesti pacienti sunt deseori identificati doar dupa ce dezvolta timpuriu cancer de colon.

MSI are repeated small sequences of a variable number from 1 to 6 base pairs, suitable for DNA replication er- rors increase or decrease in number in case of the defects in mismatch repair genes MMR genes. Their mutations in Lynch syndrome individuals are responsable for the microsatellite instability observed in tumor cells.

Constitutional MSH6 mutations are linked with distal colorectal cancers and with endometrial cancer Wijnen et al ; Berends et al ; constitutional mutations of both MSH6 and PMS2 are char- acterized by reduced penetrance. Nowadays it is recognized that Turcot syndrome and Muir-Torre syndrome are variants of Lynch syndrome.

colorectal cancer genetics

The Turcot syndrome is characterized by malignant brain tumors, especially astrocytoma and glioblas- toma; the Muir-Torre syndrome consists of sebaceous tumors, both benign and malignant adenomas, carcinomas and epithe- liomaskeratoacantomas and at least one visceral malignancy, the most common being colorectal, followed by genitourinary cancers with a more indolent course.

Muir-Torre syndrome is a rare disorder, with an autosomal dominant inheritance, of- ten associated with germline mutations in the MSH2, and the MLH1 genes Hare et al In an affected individual with Lynch syn- drome one allele suffered mutations, but it is considered that is required a second hit on the other allele before the defect in MMR becomes evident.

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Inactivation of the remaining wild-type allele can occur by a variety of mechanisms, including deletion, gene conversion, methylation, or point mutation, which may be the least common Boland and Shike Cancer bucal libros were established the Amsterdam criteria for considering a tumor of HNPCC syndrome origin.

We consider that our family described here respects the Amsterdam criteria I. The Amsterdam criteria II introduced the Lynch-associated tumors Vasen et alalong with the other Amsterdam cri- teria. General screening guidelines for patients with Lynch syndrome consist of prevention colorectal cancer genetics colorectal, endometrial, ovarian, other gastrointestinal malignant tumors.

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These guidelines are respected by some of the members of our family presented here, but not of all their relatives. Some of their close relatives do not want to perform any investigation.

Cellular phenotypic changes characteristic of EMT can be induced by the absence of transition cofactor p involved in cellular regulation. Loss of syndecan-1 marker is associated with local tumor stage and metastasis. Modulators of protein kinase resistance was associated with changes in genes involved in EMT including vimentin hyperexpression and genes involved in invasion N-cadherin with a decrease expression of genes involved in epithelial cell adhesion E-cadherin. Progression in colon cancer is characterized by activating mutations in Ras genes and tumor growth factor action.

For gastro- intestinal cancers, especially in families with members having such malignant tumors, is indicated a periodic upper endoscopy screening. In case of urinary tract cancers it is recommended a yearly urine cytology and renal imaging beginning at age For skin tumors, due to an increased risk of Muir-Torre syn- drome, it is recommended a full body dermatologic examination performed yearly.

Surgery can offer options in case of an initial presence of colorectal cancer: subtotal colectomy, because of an increased frequency of metachronous cancer.

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In our department were surgically treated four of the members of this family those represented in the lower part of Figure 1none of them with multiple malignant tumors, but with multiple neoplasia of the colorectum. The family members which today are alive do not know, they have been told that their grandparents from their mother side had cardiovasculary diseases and died at an advanced age.

Que es cancer de piel, the grandparents from their father side died inexplicable at a young age. We may suppose a cancer or a cardiac disease. The other two sisters developed a colon cancer and an endometrial one, re- spectively, years later than the members mentioned.

Once the malignant ciuperci traducere colorectal cancer genetics cured, both developed much later years another primary, gastric and endometrial cancer. The sister with gastric cancer died three years after a subtotal gastrectomy.

Family with a multiple cancer syndrome

In the second generation two brothers and a sis- ter developed colon cancer, but this time at an age below In fact, it was observed a continue decrease of the age for devel- opment of a primary large bowel malignancy from 43 years to 36 yearswhich will continue to decrease to a level of 20 years of age for the daughter of the eldest brother the third genera- tion involved with the appearance of a colon cancer.

Also, the colorectal cancer genetics HH was diagnosed below age of 50 years with a colon cancer, and then developed a brain tumor. The lifetime risk of endometrial cancer compared to the general population is twenty times increased in mutation car- riers of MSH2, MSH6 and MLH1 genes, instead of a lifetime risk of only four times elevated in familial colorectal cancer families Boilesen et al Women which were diagnosed with a colorectal cancer had a 1. Comparing with the.

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