Breast carcinoma, and Colon cancer

Diseases related with Breast carcinoma and Colon cancer

In the following list you will find some of the most common rare diseases related to Breast carcinoma and Colon cancer that can help you solving undiagnosed cases.


Top matches:

High match COLORECTAL CANCER, HEREDITARY NONPOLYPOSIS, TYPE 5; HNPCC5


Hereditary nonpolyposis colorectal cancer type 5 is a cancer predisposition syndrome characterized by onset of colorectal cancer and/or extracolonic cancers, particularly endometrial cancer, usually in mid-adulthood. The disorder shows autosomal dominant inheritance with incomplete penetrance (summary by Castellsague et al., 2015).For a phenotypic description and a discussion of genetic heterogeneity of hereditary nonpolyposis colorectal cancer (HNPCC), see HNPCC1 (OMIM ).

Related symptoms:

  • Neoplasm
  • Carcinoma
  • Lymphoma
  • Breast carcinoma
  • Colon cancer


SOURCES: MESH OMIM MENDELIAN

More info about COLORECTAL CANCER, HEREDITARY NONPOLYPOSIS, TYPE 5; HNPCC5

High match SESSILE SERRATED POLYPOSIS CANCER SYNDROME; SSPCS


Sessile serrated polyposis cancer syndrome (SSPCS) is a rare disorder characterized by the presence of multiple serrated polyps in the colon and an increased personal and familial risk of colorectal cancer. SSPCS is defined by the World Health Organization (WHO) as the presence of at least 5 sessile serrated polyps (also known as 'sessile serrated adenomas,' or SSAs) proximal to the sigmoid colon, with 2 or more that are greater than 10 mm in diameter; or any number of serrated polyps in a person with a first-degree relative with SSPCS; or more than 20 serrated polyps of any size, distributed throughout the colon. SSAs are found in 2% of average-risk individuals undergoing their first screening colonoscopy, and are estimated to be responsible for 20 to 35% of all colon cancers. SSAs exhibit somatic mutations in the BRAF gene (OMIM ), or less commonly in the KRAS gene (OMIM ), early in their development. Individuals with SSPCS have a lifetime risk of colon cancer as high as 54% and may have a strong personal or family history of extracolonic cancers; first-degree relatives have a 32% risk of developing multiple serrated polyps and a 5-fold increased risk of colon cancer. An increased risk of pancreatic cancer has also been observed (summary by Gala et al., 2014).

Related symptoms:

  • Neoplasm
  • Carcinoma
  • Leukemia
  • Breast carcinoma
  • Colon cancer


SOURCES: OMIM MENDELIAN

More info about SESSILE SERRATED POLYPOSIS CANCER SYNDROME; SSPCS

High match LYNCH SYNDROME I


Hereditary nonpolyposis colorectal cancer (HNPCC) is subdivided into (1) Lynch syndrome I, or site-specific colonic cancer, and (2) Lynch syndrome II, or extracolonic cancer, particularly carcinoma of the stomach, endometrium (see {608089}), biliary and pancreatic system, and urinary tract (Lynch and Lynch, 1979; Lynch et al., 1985; Mecklin and Jarvinen, 1991). HNPCC disorders show a proclivity to early onset, predominant proximal location of colon cancer, a dominant pattern of inheritance, an excess of multiple primary cancers, and significantly improved survival when compared stage for stage with the American College of Surgeons Audit Series.Lynch et al. (1991) estimated that hereditary nonpolyposis colorectal cancer accounts for about 4 to 6% of colorectal cancer. The minimum criterion of HNPCC is that colorectal carcinoma is diagnosed and histologically verified in at least 3 relatives belonging to 2 or more successive generations. Moreover, the age of onset should be less than 50 years in at least 1 patient.The Muir-Torre syndrome (MRTES ) is a form of Lynch syndrome II associated with sebaceous skin tumors. Genetic Heterogeneity of HNPCCHNPCC is a genetically heterogeneous disease. See also HNPCC2 (OMIM ), caused by mutation in the MLH1 gene (OMIM ); HNPCC4 (OMIM ), caused by mutation in the PMS2 gene (OMIM ); HNPCC5 (OMIM ), caused by mutation in the MSH6 gene (OMIM ); HNPCC6 (OMIM ), caused by mutation in the TGFBR2 gene (OMIM ); HNPCC7 (OMIM ), caused by mutation in the MLH3 gene (OMIM ). HNPCC8 (OMIM ) results from epigenetic silencing of MSH2 caused by deletion of 3-prime exons of the EPCAM gene (OMIM ) and intergenic regions directly upstream of the MSH2 gene.Since defects in the MSH2 gene may account for as many as 60% of HNPCC cases, and defects in the MLH1 gene may play a role in up to 30%, defects in these 2 genes likely account for the vast majority of HNPCC cases.

LYNCH SYNDROME I Is also known as colorectal cancer, hereditary nonpolyposis, type 1|fcc1|hnpcc1|coca1|colon cancer, familial nonpolyposis, type 1

Related symptoms:

  • Neoplasm
  • Carcinoma
  • Leukemia
  • Neoplasm of the skin
  • Breast carcinoma


SOURCES: OMIM MENDELIAN

More info about LYNCH SYNDROME I

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Other less relevant matches:

High match NTHL1-RELATED ATTENUATED FAMILIAL ADENOMATOUS POLYPOSIS


Familial adenomatous polyposis-3 is an autosomal recessive cancer predisposition syndrome characterized by the development of multiple colonic adenomas, often with progression to colorectal cancer. Carcinomas affecting other tissues may also occur, and the carcinomas tend to develop in middle age or late adulthood (summary by Weren et al., 2015).For a discussion of genetic heterogeneity of familial adenomatous polyposis, see FAP1 (OMIM ).

NTHL1-RELATED ATTENUATED FAMILIAL ADENOMATOUS POLYPOSIS Is also known as nthl1-related attenuated fap|nthl1-related afap

Related symptoms:

  • Neoplasm
  • Carcinoma
  • Nevus
  • Lymphoma
  • Neoplasm of the skin


SOURCES: OMIM ORPHANET MENDELIAN

More info about NTHL1-RELATED ATTENUATED FAMILIAL ADENOMATOUS POLYPOSIS

High match PUNCTATE PALMOPLANTAR KERATODERMA TYPE 1


Punctate palmoplantar keratoderma type I (PPKP1), also known as Buschke-Fischer-Brauer syndrome, is a very rare hereditary skin disease characterized by irregularly distributed epidermal hyperkeratosis of the palms and soles with wide variation among patients..

PUNCTATE PALMOPLANTAR KERATODERMA TYPE 1 Is also known as palmoplantar keratoderma, punctate type i|ppkp1|keratodermia palmoplantaris papulosa, buschke-fischer-brauer type|buschke-fischer-brauer syndrome|keratosis palmoplantaris papulosa|kppp1

Related symptoms:

  • Neoplasm
  • Pain
  • Dilatation
  • Depressivity
  • Hyperkeratosis


SOURCES: ORPHANET OMIM MENDELIAN

More info about PUNCTATE PALMOPLANTAR KERATODERMA TYPE 1

High match PANCREATIC CANCER


Pancreatic cancer shows among the highest mortality rates of any cancer, with a 5-year relative survival rate of less than 5%. By the time of initial diagnosis, metastatic disease is commonly present. Established risk factors include a family history of pancreatic cancer, a medical history of diabetes type 2, and cigarette smoking (summary by Amundadottir et al., 2009). Genetic Heterogeneity of Pancreatic CancerSomatic mutations in pancreatic cancer occur in the KRAS (OMIM ), CDKN2A (OMIM ), MADH4 (OMIM ), TP53 (OMIM ), ARMET (OMIM ), STK11 (OMIM ), ACVR1B (OMIM ), and RBBP8 (OMIM ) genes.Susceptibility loci for pancreatic cancer include PNCA1 (OMIM ), related to mutation in the PALLD gene on chromosome 4q32 (OMIM ); PNCA2 (OMIM ), related to mutation in the BRCA2 gene on chromosome 13q12 (OMIM ); PNCA3 (OMIM ), related to mutation in the PALB2 gene on chromosome 16p12 (OMIM ); and PNCA4 (OMIM ), related to mutation in the BRCA1 gene on chromosome 17q21 (OMIM ). Occurrence of Pancreatic Cancer in Other DisordersSeveral familial cancer syndromes increase the risk of pancreatic cancer. The best characterized include hereditary nonpolyposis colon cancer syndrome (HNPCC; see {120435}); hereditary breast-ovarian cancer syndrome due to mutations in BRCA2; Peutz-Jeghers syndrome (OMIM ); the melanoma-pancreatic cancer syndrome (OMIM ), caused by mutations in CDKN2A (OMIM ); von Hippel-Lindau syndrome (OMIM ), ataxia-telangiectasia (OMIM ) (Swift et al., 1976), and juvenile polyposis syndrome (OMIM ).Patients with hereditary pancreatitis (OMIM ) resulting from gain-of-function mutations in the protease serine-1 gene (PRSS1 ) have a lifetime pancreatic cancer risk ratio of 57 and a cumulative incidence, to age 70 years, of 40% (Lowenfels et al., 1997).

PANCREATIC CANCER Is also known as pancreatic carcinoma|pancreatic acinar carcinoma

Related symptoms:

  • Ataxia
  • Neoplasm
  • Pain
  • Fatigue
  • Diabetes mellitus


SOURCES: ORPHANET OMIM MENDELIAN

More info about PANCREATIC CANCER

High match APC-RELATED ATTENUATED FAMILIAL ADENOMATOUS POLYPOSIS


APC-RELATED ATTENUATED FAMILIAL ADENOMATOUS POLYPOSIS Is also known as apc-related afap|apc-related attenuated familial polyposis coli|apc-related attenuated fap

Related symptoms:


SOURCES: ORPHANET MENDELIAN

More info about APC-RELATED ATTENUATED FAMILIAL ADENOMATOUS POLYPOSIS

High match FAMILIAL PANCREATIC CARCINOMA


Familial pancreatic carcinoma is defined by the presence of pancreatic cancer (PC) in two or more first-degree relatives.

FAMILIAL PANCREATIC CARCINOMA Is also known as familial atypical multiple mole melanoma-pancreatic carcinoma syndrome|fammmpc|familial pancreatic cancer

Related symptoms:

  • Neoplasm
  • Diabetes mellitus
  • Abdominal pain
  • Weight loss
  • Jaundice


SOURCES: OMIM ORPHANET MENDELIAN

More info about FAMILIAL PANCREATIC CARCINOMA

High match MUIR-TORRE SYNDROME


Muir-Torre syndrome (MTS) is a form of hereditary nonpolyposis colon cancer (HNPCC) characterized by cutaneous sebaceous tumors, keratoacanthomas and at least one visceral malignancy, most frequently gastrointestinal carcinoma.

MUIR-TORRE SYNDROME Is also known as cutaneous sebaceous neoplasms and keratoacanthomas, multiple, with gastrointestinal and other carcinomas|multiple keratoacanthoma, muir-torre type

Related symptoms:

  • Neoplasm
  • Carcinoma
  • Leukemia
  • Nevus
  • Lymphoma


SOURCES: MESH ORPHANET OMIM MENDELIAN

More info about MUIR-TORRE SYNDROME

High match LI-FRAUMENI SYNDROME


Li-Fraumeni syndrome (LFS) is a rare cancer predisposition syndrome characterized by the early-onset of multiple primary cancers such as breast cancer, soft tissue and bone sarcomas (see these terms), brain tumors and adrenal cortical carcinoma (ACC) (see this term).

LI-FRAUMENI SYNDROME Is also known as sarcoma family syndrome of li and fraumeni|sbla syndrome

Related symptoms:

  • Neoplasm
  • Carcinoma
  • Leukemia
  • Lymphoma
  • Neoplasm of the skin


SOURCES: OMIM ORPHANET MENDELIAN

More info about LI-FRAUMENI SYNDROME

Top 5 symptoms//phenotypes associated to Breast carcinoma and Colon cancer

Symptoms // Phenotype % cases
Neoplasm Very Common - Between 80% and 100% cases
Neoplasm of the pancreas Common - Between 50% and 80% cases
Carcinoma Common - Between 50% and 80% cases
Hodgkin lymphoma Uncommon - Between 30% and 50% cases
Leukemia Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

Patients with Breast carcinoma and Colon cancer. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases


Lymphoma Neoplasm of the skin Prostate cancer Melanoma Sarcoma Squamous cell carcinoma Endometrial carcinoma Ovarian carcinoma Ovarian neoplasm Stomach cancer

Rare Symptoms - Less than 30% cases


Renal neoplasm Duodenal adenocarcinoma Weight loss Jaundice Exocrine pancreatic insufficiency Pancreatic adenocarcinoma Hereditary nonpolyposis colorectal carcinoma Pain Abdominal pain Diabetes mellitus Nevus Basal cell carcinoma Bladder neoplasm Neoplasm of the liver Pancreatic squamous cell carcinoma Laryngeal carcinoma Keratoacanthoma Vasculitis Intestinal polyposis Hyperlipidemia Sebaceous gland carcinoma Neoplasm of the stomach Hematological neoplasm Intestinal polyp Colonic diverticula Adenoma sebaceum Chondrosarcoma Brain neoplasm Salivary gland neoplasm Rhabdomyosarcoma Neoplasm of the adrenal cortex Neoplasm of the colon Impaired lymphocyte transformation with phytohemagglutinin Plethora Monoclonal immunoglobulin M proteinemia Neoplasm of the nervous system Lung adenocarcinoma Adrenocortical carcinoma Soft tissue sarcoma Medulloblastoma Benign gastrointestinal tract tumors Oropharyngeal squamous cell carcinoma Osteosarcoma Acute leukemia Progressive encephalopathy Neoplasm of the lung Acute lymphoblastic leukemia Nephroblastoma Benign genitourinary tract neoplasm Malignant genitourinary tract tumor Peritoneal abscess Chronic pancreatitis Functional intestinal obstruction Papule Scaling skin Abnormality of the nail Thickened skin Epidermal acanthosis Abnormality of the skin Palmoplantar keratoderma Hyperkeratosis Parakeratosis Depressivity Dilatation Bladder carcinoma Meningioma Adenocarcinoma of the colon Chronic atrophic gastritis Gastritis Renal cell carcinoma Hypergranulosis Extrahepatic cholestasis Nausea and vomiting Intermittent diarrhea Intestinal pseudo-obstruction Chronic fatigue Poor appetite Back pain Anorexia Lymphadenopathy Elevated hepatic transaminase Orthokeratosis Hepatosplenomegaly Increased level of L-fucose in urine Pancreatitis Telangiectasia Fatigue Ataxia Transitional cell carcinoma of the bladder Prostate neoplasm



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