Recessive autosomal dominant hereditary breast and ovarian cancer syndrome. Medical search. Frequent questions

A hereditary cancer syndrome (familial/family cancer syndrome, inherited cancer syndrome, cancer predisposition syndrome, cancer syndrome, etc.) is a genetic disorder in which inherited genetic mutations in one or more genes predispose the affected individuals to the development of cancer and may also cause early onset of these cancers. (wikipedia.org)
Females are more frequently affected than males, and the chance to pass on an X-linked dominant disorder differs between men and women. (assistedfertility.com)
Turcot syndrome (OMIM 276300), another variant of FAP, is a rare autosomal recessive disorder that can present with brain tumors ( glioblastoma multiforme , medulloblastoma ) and colonic adenomas that frequently become malignant in those younger than 30 years. (medscape.com)
[ 8 ] In 1991, Padberg et al suggested that the disorder known as cerebelloparenchymal disorder VI (Lhermitte-Duclos disease) is part of the multiple hamartoma syndrome. (medscape.com)
Dominant" means that a single copy of the mutated gene (from one parent) is enough to cause the disorder. (genome.gov)
By contrast, an autosomal recessive disorder requires two copies of the mutated gene (one from each parent) to cause the disorder. (genome.gov)
Huntington's disease is an example of an autosomal dominant genetic disorder. (genome.gov)
Recessive" means that two copies of the mutated gene (one from each parent) are required to cause the disorder. (genome.gov)
By contrast, an autosomal dominant disorder requires only a single copy of the mutated gene from one parent to cause the disorder. (genome.gov)
Sickle cell anemia is an example of an autosomal recessive genetic disorder. (genome.gov)
If one abnormal gene produces disease, this is called a dominant hereditary disorder. (health.am)
In the case of a dominant disorder, if one abnormal gene is inherited from mom or dad, the child will likely show the disease. (health.am)
5 This disorder involved a variety of extracolonic cancer sites and was therefore initially referred to as the "cancer family syndrome. (cmaj.ca)
Rare, autosomal recessive disorder caused by deficiency of the beta 2 integrin receptors (RECEPTORS, LEUKOCYTE-ADHESION) comprising the CD11/CD18 family of glycoproteins. (lookformedical.com)
LEMS is an autoimmune disorder most commonly associated with small cell lung carcinoma (ie, paraneoplastic syndrome). (medscape.com)
DMD is an X-linked recessive hereditary disorder characterized by progressive muscle fiber degeneration and weakness. (medscape.com)
Hypokalemic periodic paralysis is a rare autosomal dominant hereditary disorder that is characterized by transient episodes of skeletal muscle weakness/paralysis when the serum potassium level decreases. (medscape.com)
An autosomal recessive inheritance pattern means that it typically takes two copies of the mutation in order for someone to be affected by the disorder. (jillcarnahan.com)
Ataxia-telengiectasia - autosomal dominant , click HERE for a video of the nystagmus seen in this disorder. (uchicago.edu)

The mutation in the inherited gene is known as a germline mutation and a further mutation in the normal allele results in the development of cancer. (wikipedia.org)
Both alleles of a gene must be mutated in autosomal recessive disorders for an individual to have a predisposition to cancer. (wikipedia.org)
If both parents have one mutant allele and one normal allele (heterozygous) then they have a 25% chance of producing a homozygous recessive child (has predisposition), 50% chance of producing a heterozygous child (carrier of the faulty gene) and 25% chance of produced a child with two normal alleles. (wikipedia.org)
Autosomal Dominant - Disorders caused by one mutated copy of a gene. (assistedfertility.com)
When a person carries an autosomal dominant gene mutation, each of his/her offspring has a 50% chance for inheriting the gene mutation. (assistedfertility.com)
Autosomal Recessive - Disorders caused by two mutated copies of a gene. (assistedfertility.com)
Females who have an X-linked dominant gene mutation have a 50% chance to have an affected child. (assistedfertility.com)
Females who carry an X-linked recessive gene mutation have a 50% chance to pass it on to each of her children. (assistedfertility.com)
Hereditary non-polyposis colorectal cancer - Hereditary non-polyposis colon cancer (HNPCC) is caused by an autosomal dominant inherited gene mutation. (assistedfertility.com)
These phenotypes range from a mild phenotype in attenuated polyposis syndrome to specific clinical syndromes recognized many decades prior to the discovery of the adenomatous polyposis ( APC ) gene. (medscape.com)
Those who are diagnosed with a recessive disease have inherited two copies of a gene, both carrying a mutation. (healthywomen.org)
Autosomal" means that the gene in question is located on one of the numbered, or non-sex, chromosomes. (genome.gov)
Carrier screening is designed to identify people who carry a gene change or mutation for an autosomal recessive or X-linked condition. (sharinghealthygenes.com)
Mutations of this gene are associated with the formation of HEREDITARY BREAST AND OVARIAN CANCER SYNDROME. (lookformedical.com)
Mutations in this gene predispose humans to breast and ovarian cancer. (lookformedical.com)
The subgroup's GENE POOL carries only a fraction of the genetic diversity of the parental population resulting in an increased frequency of certain diseases in the subgroup, especially those diseases known to be autosomal recessive. (lookformedical.com)
Cancer is a disease of the chromosomes, and chromosomal instability in cancer disrupts gene function by either inactivating tumor suppressor genes or activating growth-promoting oncogenes. (nshealth.ca)
the syndrome results not from a mutation in the APC gene but in the human MutY homolog gene. (medscape.com)
Since the autosomal chromosomes are paired, there are 2 copies of each gene. (health.am)
This is called a recessive disease, and the gene is said to be inherited in a recessive pattern. (health.am)
In the case of a recessive disease, if one abnormal gene is inherited, the child will not show clinical disease, but they will pass the abnormal gene to 50% (on average) of their offspring. (health.am)
If a child receives an abnormal recessive disease gene from both parents, the child will show the disease and will be HOMOZYGOUS for that gene. (health.am)
If two parents are each heterozygous for a particular recessive disease gene, then each child has a 25% chance of being homozygous for that gene and therefore, of showing the disease. (health.am)
Although most hereditary cancer syndromes have an autosomal dominant inheritance pattern, MYH mutations are autosomal recessive, which means that a mutation must occur in both alleles of the gene in order for disease to develop. (cmaj.ca)
Patient with a microsatellite instability-high (MSI-H) tumor may be further tested for germline mutation in a mismatch repair gene and, if found, the patient and blood relatives may be counseled about strategies for early cancer detection and risk reduction. (asperbio.com)
For this article, we'll focus on the most common type of hemochromatosis: Hereditary (type 1) hemochromatosis, which is mainly caused by mutations in the HFE gene on chromosome 6. (jillcarnahan.com)

Many of these syndromes are caused by mutations in tumor suppressor genes, genes that are involved in protecting the cell from turning cancerous. (wikipedia.org)
X-linked dominant - Disorders caused by mutations in genes located on the X chromosome. (assistedfertility.com)
X-linked recessive - Disorders caused by mutations on genes on the X chromosomes. (assistedfertility.com)
Hereditary Breast/Ovarian Cancer - Mutations in BRCA1 or BRCA2 genes predispose to breast cancer and ovarian cancer as well as prostate cancer (BRCA1) and other cancers (BRCA2). (assistedfertility.com)
Inherited pancreatic cancer is genetically highly heterogenous and has been associated with germline mutations in BRCA1, BRCA2, CDKN2A, PALB2 and STK11 . (blueprintgenetics.com)
There are an increasing number of reports showing that mutations in the ATG genes were identified in various human diseases such as neurodegenerative diseases, infectious diseases, and cancers. (nature.com)
1 In this review, we use Lynch syndrome as an example for the diagnosis, testing of germ cells for mutations, surveillance and management of hereditary colorectal cancer. (cmaj.ca)
Since the identification of mismatch repair mutations in this syndrome, it has become known as Lynch syndrome 6 , 7 (Online Mendelian Inheritance in Man database no. 120435). (cmaj.ca)
Advances in molecular genetics, particularly in the identification of cancer-causing mutations in germ cells, have made it possible to establish whether patients are at high risk of hereditary cancers. (cmaj.ca)

Additionally, a viable therapeutic strategy may involve triggering the cell death mechanism in cancer cells by blocking mitochondrial metabolism with a natural substance. (scientificarchives.com)
Hereditary disorders are passed down from parent to offspring via different patterns of inheritance, including autosomal dominant , autosomal recessive , X-linked , and mitochondrial inheritance . (amboss.com)

Hereditary cancer syndromes often show not only a high lifetime risk of developing cancer, but also the development of multiple independent primary tumors. (wikipedia.org)
Individuals with Gardner syndrome (Online Mendelian Inheritance in Man [OMIM] 175100, 135290) develop adenomatous polyps throughout the GI tract, accompanied by extracolonic manifestations, including periampullary adenomas, papillary carcinoma of the thyroid, hepatoblastoma , osteomas of the mandible and skull, epidermal cysts, and desmoid tumors. (medscape.com)
Tumors or cancer of the human BREAST. (lookformedical.com)
Tumors or cancer of the OVARY. (lookformedical.com)
Characteristically the tumor tends to occur at an earlier than average age, individuals may have more than one primary tumor, the tumors may be multicentric, usually more than 25 percent of the individuals in direct lineal descent from the proband are affected, and the cancer predisposition in these families behaves as an autosomal dominant trait with about 60 percent penetrance. (lookformedical.com)
Telomere Dysfunction, Chromosomal Instability and Cancer -- Genetic Instability and Disease Prognostication -- Causes of Chromosomal Instability -- Patterns of Chromosomal Aberrations in Solid Tumors -- Yeast as Models of Mitotic Fidelity -- The Diverse Effects of Complex Chromosome Rearrangements and Chromothripsis in Cancer Development. (nshealth.ca)
The proton-coupled folate transporter (PCFT) is ubiquitously expressed in solid tumors to which it delivers antifolates, particularly pemetrexed, into cancer cells. (aspetjournals.org)
They can be functional, exhibiting a hormonal hypersecretion syndrome, but can be non-functional presenting with non-specific symptoms and include insulinoma, glucagonoma, VIPoma, somatostatinoma (SSoma), PPoma and Zollinger-Ellison syndrome (ZES, or gastrinoma) and other ectopic hormone producing tumors (such as GRFoma) (see these terms). (findzebra.com)
1] Condition such as pancreatic cancer or ovarian cancer can be considered endocrine tumors, or classified under other systems. (findzebra.com)

Some genes are also associated with autosomal recessive childhood cancer predisposition or other syndromes. (arupconsult.com)
Some rare cancers are strongly associated with hereditary cancer predisposition syndromes. (wikipedia.org)
In these cases, only one faulty allele has to be present for an individual to have a predisposition to cancer. (wikipedia.org)

Refer to Lynch Syndrome - Hereditary Nonpolyposis Colorectal Cancer (HNPCC) for more information. (arupconsult.com)
This article deals exclusively with the hereditary forms of colorectal cancer. (cmaj.ca)
Circle graph depicting the marked genotypic and phenotypic heterogeneity in hereditary colorectal cancer syndromes. (cmaj.ca)
Note: AC-1 = Amsterdam Criteria I, MMR = mismatch repair, FAP = familial adenomatous polyposis, AFAP = attenuated familial adenomatous polyposis, HBCC = hereditary breast and colorectal cancer, PJS = Peutz-Jeghers syndrome, FJP = familial juvenile polyposis, CD = Cowden disease, BRRS = Bannayan-Ruvalcaba-Riley syndrome. (cmaj.ca)
Lynch syndrome is the most common hereditary syndrome that predisposes patients to colorectal cancer. (cmaj.ca)
It accounts for 2%-5% of the total burden of colorectal cancer. (cmaj.ca)
2 The estimated number of new colorectal cancer cases in Canada in 2008 was 21 500. (cmaj.ca)
Each patient with Lynch syndrome may represent a family in which multiple family members can be expected to develop colorectal cancer or an integral extracolonic cancer. (cmaj.ca)
The second most common hereditary colorectal cancer syndrome is familial adenomatous polyposis, which is responsible for less than 1% of all colorectal cancer cases. (cmaj.ca)
4 Other identified syndromes that predispose patients to colorectal cancer are even less common ( Figure 1 ). (cmaj.ca)
However, we still have much to learn about the basis of "familial" colorectal cancer. (cmaj.ca)
In 1966, our team described 2 large families from the mid-western United States with an apparent excess number of members with colorectal cancer that lacked multiple colonic adenomas. (cmaj.ca)
It was subsequently renamed hereditary non-polyposis colorectal cancer syndrome. (cmaj.ca)
In this review, we discuss some of the distinguishing features of hereditary colorectal cancer syndromes and outline the role that primary care physicians play in the detection of hereditary colorectal cancer syndromes and the care of affected patients. (cmaj.ca)
Microsatellite instability (MSI) is the mutational signature found in colorectal cancers (CRCs) that evolve as a result of inactivation of the DNA mismatch repair (MMR) system. (asperbio.com)
1] Boland CR: Evolution of the nomenclature for the hereditary colorectal cancer syndromes. (asperbio.com)

Less often, syndromes may be transmitted as an autosomal recessive trait. (wikipedia.org)
an individual who possesses an unexpressed, recessive trait. (womenshealthsection.com)

Autosomal recessive ataxias include Friedreich ataxia (the most prevalent), ataxia-telangiectasia, abetalipoproteinemia, ataxia with isolated vitamin E deficiency, and cerebrotendinous xanthomatosis. (msdmanuals.com)
If the deficiency is the breast through all its three vitamins, deep and TJic guy bedding would cause. (lakesinclair.org)

The broad category of hamartomatous polyposis syndromes encompasses several syndromes, mainly Peutz-Jeghers Syndrome (PJS) , PTEN -associated hamartomatous syndromes (including Cowden syndrome and Bannayan-Riley-Ruvalcaba syndrome [BRR]), familial juvenile polyposis, and Cronkhite-Canada syndrome . (medscape.com)

As only one allele needs to be mutated (as compared to both in so-called "sporadic cancers"), the individual has a higher chance of developing the cancer than the general population. (wikipedia.org)
BC is mostly sporadic, and rarely hereditary. (bvsalud.org)
See also -- hereditary cancer, sporadic cancer. (womenshealthsection.com)
MSI testing demonstrating instability in the tumor specimen is suggestive of HNPCC, although not diagnostic since 10-15% of sporadic colon cancers will also exhibit MSI. (asperbio.com)

Capsule?CAPD: Continuous ambulatory peritoneal dialysis?Caps: Capsules?CAPS: Cryopyrin-Associated Periodic Syndromes disorders?CAPTIA Syph G: ?CAPTIA Syph M: ?CAST: Cardiac arrhythmia suppression trials?CAT: Computerized axial tomography?Cataplasm. (kuwaitpharmacy.com)

Scientific understanding of cancer susceptibility syndromes is actively expanding: additional syndromes are being found, the underlying biology is becoming clearer, and genetic testing is improving detection, treatment, and prevention of cancer syndromes. (wikipedia.org)
Is ideal for patients with a clinical suspicion of hereditary pancreatic cancer susceptibility. (blueprintgenetics.com)
ASGE guideline on screening for pancreatic cancer in individuals with genetic susceptibility: summary and recommendations. (nih.gov)
INTRODUCTION: Fanconi anemia (FA) is a rare inherited hematological disease due to a defect in the DNA repair pathway resulting in congenital abnormalities and high susceptibility to develop cancers. (bvsalud.org)

Each child of an individual with a BRCA1 or BRCA2 cancer-predisposing mutation has a 50% chance of inheriting the mutation. (assistedfertility.com)
These hereditary forms are mostly BRCA1- and BRCA2-associated hereditary breast and ovarian cancer syndrome. (bvsalud.org)

In this work, we chose eight experimentally demonstrated damaged PTMs to elucidate their association to human diseases including inherited diseases and cancers (somatic diseases). (hindawi.com)

Familial pancreatic cancer is defined as a family with at least one pair of first-degree relatives (parent-child or sibling pair) with pancreatic cancer without an identifiable syndrome in the family. (blueprintgenetics.com)
Pancreatic Cancer: Changing Epidemiology and New Approaches to Risk Assessment, Early Detection, and Prevention. (nih.gov)

Other cancers, including melanoma, breast cancer, and colon cancer, have been reported in RABL3 mutation-carrying individuals, with or without PDAC (Nissim et al. (nih.gov)
Melanoma is a type of skin cancer that begins in pigment-producing cells called melanocytes. (nih.gov)
Melanoma is also a common feature of genetic syndromes affecting the skin such as xeroderma pigmentosum. (nih.gov)

In normal cells the BRCA1 protein is localized in the nucleus, whereas in the majority of breast cancer cell lines and in malignant pleural effusions from breast cancer patients, it is localized mainly in the cytoplasm. (lookformedical.com)

Common examples of inherited cancer syndromes are hereditary breast-ovarian cancer syndrome and hereditary non-polyposis colon cancer (Lynch syndrome). (wikipedia.org)
Given the prevalence of breast and colon cancer, the most widely recognized syndromes include hereditary breast-ovarian cancer syndrome and hereditary non-polyposis colon cancer (Lynch syndrome). (wikipedia.org)

Hereditary cancer syndromes are often characterized by the onset of cancer at an early age (typically before 50 years of age) and multiple, multifocal, and/or similar cancers in a single individual or in one or more closely related family members. (arupconsult.com)

BACKGROUND: Congenital myasthenic syndromes (CMSs) are rare genetic diseases due to abnormalities of the neuromuscular junction leading to permanent or transient muscle fatigability and weakness. (bvsalud.org)
Cervical vertebrae 1,2, …?Ca: Calcium?Ca: Cancer?Ca: Carcinoma?Ca: Cardiac arrest?Ca: Coronary artery?CA-125: A tumor marker for ovarian cancer?CAB: Cellulose acetate butyrate?CABG: Coronary artery bypass graft?CACI: Computer-Assisted Continuous Infusion?CAD: Coronary artery disease?CAG: ?CAH: Chronic active hepatitis?CAH: Congenital adrenal hyperplasia?calid. (kuwaitpharmacy.com)

A person with two recessive alleles is known as homozygous recessive. (wikipedia.org)

Human beings have cells with 46 chromosomes -2 sex chromosomes and 22 pairs of autosomal (non-sex) chromosomes. (health.am)
The pairs of autosomal chromosomes (one from the mother and one from the father) carry basically the same information. (health.am)

To date, 32 genes were found to be involved in CMSs with autosomal dominant and/or recessive inheritance patterns. (bvsalud.org)

Pathogenic germline variants in multiple genes have been implicated in hereditary prostate cancer. (arupconsult.com)
For individuals with a suspected diagnosis of Lynch syndrome, consider testing specific to Lynch syndrome as some relevant variants are not included on this panel. (arupconsult.com)
Circles indicate as yet undiscovered variants of heriditary cancers. (cmaj.ca)

another is mutation of T286 in cyclin D1 (CCND1) causing the loss of phosphorylation of T286 is involved in nuclear accumulation of cyclin D1 in esophageal cancer [ 14 ]. (hindawi.com)

However, MYH -associated polyposis typically results in a different pattern of extracolonic cancers, including breast cancer, 12 sebaceous adenocarcinoma and endometrial cancer. (cmaj.ca)

Unlike FAP, MAP is autosomal recessive, with complete penetrance by age 60 years. (medscape.com)

Both parents must have at least one faulty allele in order for a child to be homozygous recessive. (wikipedia.org)
A child of a person affected by an autosomal dominant condition has a 50% chance of being affected by that condition via inheritance of a dominant allele. (genome.gov)

HE4 and epithelial ovarian cancer: comparison and clinical evaluation of two immunoassays and a combination algorithm. (nih.gov)
Clinical description PNETs, when functional, usually present in the 5th decade of life as various hypersecretion syndromes. (findzebra.com)

The syndrome is characterized by abnormal adhesion-dependent functions, especially defective tissue emigration of neutrophils, leading to recurrent infection. (lookformedical.com)

Examples of autosomal recessive cancer syndromes are ataxia-telangiectasia, Bloom syndrome, Fanconi anemia, MUTYH-associated polyposis, Rothmund-Thomson syndrome, Werner syndrome and Xeroderma pigmentosum. (wikipedia.org)
Friedreich Ataxia (FA) is the most common hereditary ataxia , occurring in 1/50,000 Caucasians. (uchicago.edu)

In this study, we elucidated the proteome wide relationship of eight damaged PTMs to human inherited diseases and cancers. (hindawi.com)
Some human inherited diseases or cancers may be the consequences of the interactions of damaged PTMs, rather than the result of single damaged PTM site. (hindawi.com)

Autosomal dominant disorders usually occur in every generation of an affected family. (assistedfertility.com)
[ 5 , 6 ] In PJS (OMIM 175200), an autosomal dominant disease, polyps can occur anywhere within the digestive tract (consistently within the jejunum) and are accompanied by characteristic melanin spots on the lips and digits. (medscape.com)
something which causes cancer to occur by causing changes in a cell's DNA. (womenshealthsection.com)

of these, familial adenomatous polyposis and Lynch syndrome are the most common and well known ( Figure 1 ). (cmaj.ca)
3 Thus, Lynch syndrome accounted for as many as 1075 cases in Canada in 2008. (cmaj.ca)
Advances in molecular diagnostics in the last 15 years have changed the landscape of Lynch syndrome. (cmaj.ca)
13 The possibility of sebaceous adenocarcinoma in this syndrome overlaps with Muir-Torre syndrome, which is a variant of Lynch syndrome. (cmaj.ca)
Approximately 3% of all CRCs are a consequence of Lynch Syndrome, and nearly all Lynch Syndrome CRCs have MSI [2]. (asperbio.com)

Refer to the Genes Tested table below for more details regarding the genes and syndromes included on the Hereditary Prostate Cancer Panel. (arupconsult.com)
Approximately 10% of prostate cancers are associated with a hereditary cause. (arupconsult.com)

Ear drops?AutoPap: Computer-assisted cytology interpretation system?AV: Aortic valve?AV: Atrioventricular?A-V: Arteriovenous?AVERT: Atorvastatin Versus Revascularization treatment?AVID: ?AVM: Arteriovenous Malformation?AVNRT: AV nodal reentry tachycardia?AVP: Arginine vasopressin?AVR: Aortic valve replacement?AVR: Augmented V lead, right arm (ECG)?AVRT: ?AVS: Arteriovenous shunt?AWS: Alcohol withdrawal syndrome?AXR: Abdominal X ray?AZF: Azoospermia factor genes?AZT: Azidothymidine (zidovudine)?B & O: Belladonna and opium?B Bx. (kuwaitpharmacy.com)

FAP is the most common inherited polyposis syndrome, encompassing multiple phenotypes. (medscape.com)

[ 7 ] In 1972, Weary et al described the manifestations of Cowden disease and classified it as a multiple hamartomatous syndrome with autosomal dominant inheritance. (medscape.com)
Some disorders, such as Huntington disease, are autosomal dominant. (healthywomen.org)
Evidence indicating that OXPHOS plays a substantial role in the development of many cancer cells has led to the growing recognition of cancer as a metabolic disease. (scientificarchives.com)
Neuromuscular disorders encompass a number of different disease processes, including myasthenia gravis (MG), Lambert-Eaton myasthenic syndrome (LEMS), Duchenne muscular dystrophy (DMD), Becker muscular dystrophy (BMD), and hypokalemic periodic paralysis. (medscape.com)

Families with X- linked recessive disorders often have affected males, but rarely affected females, in each generation. (assistedfertility.com)

Hereditary cancer syndromes underlie 5 to 10% of all cancers and there are over 50 identifiable hereditary forms of cancer. (wikipedia.org)

Although intestinal polyposis syndromes are relatively rare, awareness of the existing health risks is important for patients and their families affected by these disorders. (medscape.com)
Intestinal polyposis syndromes can be divided, based on histology, into the broad categories of familial adenomatous polyposis (FAP) , hamartomatous polyposis syndromes, and other rare polyposis syndromes, such as hereditary-mixed polyposis syndrome (HMPS) and serrated polyposis syndrome (SPS). (medscape.com)
A rare adnexal carcinoma that is histopathologically identical to homologous lesions in the salivary gland and breast. (nih.gov)

Anatomy2

Diseases13

Chemicals and Drugs4

Analytical, Diagnostic and Therapeutic Techniques and Equipment5

Psychiatry and Psychology1

Phenomena and Processes15

Disciplines and Occupations1

Anthropology, Education, Sociology and Social Phenomena1

Health Care5

Disorder19

Gene26

Mutations9

Mitochondrial2

Tumors9

Predisposition3

Colorectal16

Trait2

Deficiency2

Peutz-Jeghers1

Sporadic4

Periodic syndromes1

Susceptibility4

BRCA22

Somatic1

Pancreatic cancer2

Melanoma3

BRCA11

Colon2

Onset1

Congenital2

Alleles1

Chromosomes2

Patterns1

Variants3

Esophageal cancer1

Typically1

Penetrance1

Allele2

Clinical2

Abnormal1

Ataxia2

Diseases2

Occur3

Lynch Syndrome5

Prostate2

Malformation1

Phenotypes1

Disease4

Females1

Identifiable1

Rare3