Breast carcinoma, and Stomach cancer

Diseases related with Breast carcinoma and Stomach cancer

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


Top matches:

High match LI-FRAUMENI SYNDROME 2; LFS2


Related symptoms:

  • Neoplasm
  • Breast carcinoma
  • Sarcoma
  • Meningioma
  • Stomach cancer


SOURCES: MESH OMIM MENDELIAN

More info about LI-FRAUMENI SYNDROME 2; LFS2

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 HEREDITARY DIFFUSE GASTRIC CANCER


Hereditary diffuse gastric cancer is a rare epithelial tumor of the stomach, characterized by the development of diffuse (signet ring cell) gastric cancer at a young age, associated with germline heterozygous mutations of CDH1, MAP3K6 and CTNNA1 genes. In early stages it presents with non-specific and vague symptoms, in advanced stages it may cause nausea and vomiting, dysphagia, loss of appetite, abdominal mass or weight loss. Women have an increased risk of lobular breast cancer as well.

HEREDITARY DIFFUSE GASTRIC CANCER Is also known as hereditary diffuse cancer of stomach|hereditary diffuse gastric adenocarcinoma|familial diffuse cancer of stomach|familial diffuse gastric cancer|gastric cancer, familial diffuse|fdgc|hdgc|gastric cancer, hereditary diffuse

Related symptoms:

  • Neoplasm
  • Cleft palate
  • Carcinoma
  • Cleft lip
  • Cleft upper lip


SOURCES: OMIM ORPHANET MENDELIAN

More info about HEREDITARY DIFFUSE GASTRIC CANCER

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Other less relevant matches:

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

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

High match PEUTZ-JEGHERS SYNDROME


Peutz-Jeghers syndrome (PJS) is an inherited gastrointestinal disorder characterized by development of characteristic hamartomatous polyps throughout the gastrointestinal (GI) tract, and by mucocutaneous pigmentation. PJS carries a considerably increased risk of GI and extra-GI malignancies.

PEUTZ-JEGHERS SYNDROME Is also known as hamartomatous intestinal polyposis|polyps and spots syndrome|pjs

Related symptoms:

  • Neoplasm
  • Anemia
  • Vomiting
  • Abdominal pain
  • Gastrointestinal hemorrhage


SOURCES: OMIM ORPHANET MENDELIAN

More info about PEUTZ-JEGHERS SYNDROME

High match FANCONI ANEMIA, COMPLEMENTATION GROUP S; FANCS


Fanconi anemia complementation group S is an autosomal recessive disorder characterized by developmental delay apparent from infancy, short stature, microcephaly, and coarse dysmorphic features. Laboratory studies show defective DNA repair and increased chromosomal breakage during stress. Some patients may have radial ray anomalies, anemia, and increased risk of cancer; patients often have a family history of cancer in family members who have heterozygous mutations (summary by Freire et al., 2018).For additional general information and a discussion of genetic heterogeneity of Fanconi anemia, see {227650}.

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Short stature
  • Hearing impairment
  • Microcephaly


SOURCES: OMIM MENDELIAN

More info about FANCONI ANEMIA, COMPLEMENTATION GROUP S; FANCS

High match CARNEY COMPLEX


Carney complex (CNC) is characterized by spotty skin pigmentation, endocrine overactivity and myxomas.

CARNEY COMPLEX Is also known as myxoma-spotty pigmentation-endocrine overactivity syndrome|carney syndrome|carney myxoma-endocrine complex, type 2

Related symptoms:

  • Neoplasm
  • Congestive heart failure
  • Stroke
  • Hirsutism
  • Sudden cardiac death


SOURCES: ORPHANET OMIM MENDELIAN

More info about CARNEY COMPLEX

High match FAMILIAL ADENOMATOUS POLYPOSIS 1; FAP1


Familial adenomatous polyposis-1 is an autosomal dominant disorder characterized by predisposition to cancer. Affected individuals usually develop hundreds to thousands of adenomatous polyps of the colon and rectum, a small proportion of which will progress to colorectal carcinoma if not surgically treated. Gardner syndrome is a variant of FAP in which desmoid tumors, osteomas, and other neoplasms occur together with multiple adenomas of the colon and rectum (Nishisho et al., 1991).Rustgi (2007) reviewed the genetics of hereditary colon cancer, including APC. Genetic Heterogeneity of Familial Adenomatous PolyposisSee also autosomal recessive FAP2 (OMIM ), caused by mutation in the MUTYH gene (OMIM ) on chromosome 1p34; autosomal recessive FAP3 (OMIM ), caused by mutation in the NTHL1 gene (OMIM ) on chromosome 16p13; and autosomal recessive FAP4 (OMIM ), caused by mutation in the MSH3 gene (OMIM ) on chromosome 5q11.

FAMILIAL ADENOMATOUS POLYPOSIS 1; FAP1 Is also known as apc|familial polyposis of the colon|fpc|adenomatous polyposis of the colon|polyposis, adenomatous intestinal

Related symptoms:

  • Intellectual disability
  • Neoplasm
  • Abnormality of the dentition
  • Kyphoscoliosis
  • Carcinoma


SOURCES: OMIM ORPHANET MENDELIAN

More info about FAMILIAL ADENOMATOUS POLYPOSIS 1; FAP1

Medium 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

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

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

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

Uncommon Symptoms - Between 30% and 50% cases


Ovarian neoplasm Adrenocortical carcinoma Neoplasm of the lung Neoplasm of the skin Leukemia Ovarian carcinoma

Rare Symptoms - Less than 30% cases


Thyroid carcinoma Anemia Fibroadenoma of the breast Pancreatic adenocarcinoma Intestinal obstruction Medulloblastoma Brain neoplasm Glioma Lymphoma Endometrial carcinoma Intellectual disability Melanoma Prostate cancer Abnormal pigmentation of the oral mucosa Multiple lentigines Increased circulating cortisol level Enlarged polycystic ovaries Chronic atrophic gastritis Hodgkin lymphoma Neoplasm of the colon Hepatocellular adenoma Histiocytoma Bronchogenic cyst Uterine neoplasm Pigmented micronodular adrenocortical disease Cardiac myxoma Hypertension associated with pheochromocytoma Nodular goiter Vestibular Schwannoma Blue nevus Profuse pigmented skin lesions Increased urinary cortisol level Neoplasm of the breast Adrenal pheochromocytoma Ovarian cyst Cafe-au-lait spot Polycystic ovaries Hypermelanotic macule Growth hormone excess Prolactin excess Pituitary adenoma Neoplasm of the endocrine system Parathyroid adenoma Hypoplasia of the musculature Pituitary growth hormone cell adenoma Red hair Schwannoma Pigmentation of the sclera Pituitary prolactin cell adenoma Testicular neoplasm Thyroid adenoma Osteochondroma Recurrent paroxysmal headache Abnormal prolactin level Peripheral Schwannoma Horseshoe kidney Sertoli cell neoplasm Osteoma Keloids Thoracic kyphoscoliosis Chondrosarcoma Absent gallbladder Intestinal polyp Multiple impacted teeth Colorectal polyposis Cholangiocarcinoma Abdominal mass Papillary thyroid carcinoma Multiple gastric polyps Unerupted tooth Adenomatous colonic polyposis Odontoma Duodenal adenocarcinoma Small intestine carcinoid Desmoid tumors Duodenal polyposis Hepatoblastoma Epidermoid cyst Thyroid follicular hyperplasia Nevus Abnormality of circulating adrenocorticotropin level Intra-oral hyperpigmentation Abnormality of the dentition Kyphoscoliosis Intellectual disability, moderate Carious teeth Infertility Hyperpigmentation of the skin Hyperextensible skin Adrenocortical adenoma Precocious puberty Chorioretinal atrophy Agenesis of permanent teeth Neurofibromas Multiple lipomas Increased number of teeth Astrocytoma Intestinal polyposis Subcutaneous nodule Hip dislocation Sudden cardiac death Macule Plethora Impaired lymphocyte transformation with phytohemagglutinin Neoplasm of the adrenal cortex Prostate neoplasm Vomiting Abdominal pain Gastrointestinal hemorrhage Abnormality of the ureter Neoplasm of the nervous system Renal cell carcinoma Multiple renal cysts Abnormality of the respiratory system Abnormality of the gastrointestinal tract Abnormality of the nose Rectal prolapse Nasal polyposis Gastrointestinal infarctions Monoclonal immunoglobulin M proteinemia Lung adenocarcinoma Abnormality of the gallbladder Acrania Meningioma Hereditary nonpolyposis colorectal carcinoma Cleft palate Cleft lip Cleft upper lip Oral cleft Helicobacter pylori infection Gastritis Soft tissue sarcoma Bladder neoplasm Adenocarcinoma of the colon Nephroblastoma Acute lymphoblastic leukemia Progressive encephalopathy Acute leukemia Osteosarcoma Rhabdomyosarcoma Arteriovenous fistula Neoplasm of the small intestine Hirsutism Low anterior hairline Conductive hearing impairment Sparse hair Blepharophimosis Prominent nasal bridge Hypopigmentation of the skin Dental malocclusion Long eyelashes Bone marrow hypocellularity Upslanted palpebral fissure Narrow palate Proximal placement of thumb Chromosome breakage Thick upper lip vermilion Macrodontia Duodenal stenosis Congestive heart failure Stroke Coarse facial features Clinodactyly Neoplasm of the rectum Hearing impairment Gastrointestinal carcinoma Esophageal neoplasm Biliary tract neoplasm Melanonychia Cervix cancer Neoplasm of the nose Global developmental delay Short stature Microcephaly Microphthalmia Growth delay Hypertelorism Failure to thrive Abnormal facial shape Delayed speech and language development Epicanthus Intrauterine growth retardation Anteverted nares Congenital hypertrophy of retinal pigment epithelium



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