This website uses cookies so that we can provide you with the best user experience possible. Cookie information is stored in your browser and performs functions such as recognising you when you return to our website and helping our team to understand which sections of the website you find most interesting and useful.

A. Some entities with autosomal dominant inheritance, in which the genetic analysis affects the clinical management
Pathology — Incidence — Gene — Locus
- Lynch Syndrome — 1/200-1.000 — MSH2 MLH1 MSH6 PMS2 — 2p21-p22 3p21.3 2p167p22
- Hereditary breast / ovarian cancer (HBOC) — 1/500-2.500 — BRCA1 BRCA2 — 17q21.1 13q12.3
- Multiple endocrine neoplasia, type 1 (MEN 1) — 2-10/100.000 — MEN1 — 11q13
- Multiple endocrine neoplasia, type 2 (MEN 2) — 1/25.000 — RET — 10q11.2
- Familial adenomatous polyposis (FAP) — 1/6.000-13.000 APC — 5q21-q22
- PTEN-hamartomas syndrome — 1/200.000 PTEN — 10q23.31
- von Hippel-Lindau syndrome — 1/36.000-45.000 — VHL — 3p25-p26
- Hereditary retinoblastoma — 1/13.500-25.000 — RB1 — 13q14.1
In these families, the descendants of a carrier of the mutation have a 50% probability of inheriting the altered gene and of developing cancer during their lifetime.
B. Some entities with autosomal dominant inheritance, in which the genetic analysis has potential clinical value
Pathology — Incidence — Gene — Locus
- Tuberous Sclerosis or Bourneville disease — 1/6.000-10.000 — TSC1 TSC2 — 9q34 16p13.3
- Familial melanomar — 1/10.000 — CDKN2A CDK4 — 9p21 12q14
- Neurofibromatosis 1 1 — 1/3.500 — NF1 — 17q11.2
- Neurofibromatosis 1 2 — 1/40.000 — NF2 — 22q12.2
- Familial Paraganglioma — Rare — SDHB SDHC SDHDSDH5 — 1p36.1-p35 1q21 11q2311q13.1
- Juvenile polyposis — 1/100.000 — SMAD4 BMPR1A — 18q21.1 10q22.3
- Beckwith-Wiedemann Syndrome — 1/14.000 — KIP2 y otros en 11p15.5 — 11p15.5
- Birt-Hogg-Dubé Syndrome — Rare — FLCN — 17p11.2
- Gorlin Syndrome — 1/57.000 — PTCH1 PTCH2 — 9q22.31p32
- Li-Fraumeni Syndrome — Rare TP53 — 17p13.1
- Peutz-Jeghers Syndrome — 1/120.000 — STK11 19p13.3
- Familial Wilms Tumor — 1/10.000 — WT1 — 11p13
n these families, the descendants of a carrier of the mutation have a 50% probability of inheriting the altered gene that confers a high risk to develope cancer during their lifetime.
C. Some entities with autosomal recessive inheritance
Pathology — Incidence — Gene — Locus
- Fanconi Anemia — 1/360.000 — FANCA — FANCB FANCC FANCD1 FANCD2 FANCE FANCF FANCG FANCI FANJ
- FANCL FANCM FANCN FANCO FANCP — 16q24.3 Xp22.31 9q22.3 13q12.3 3p25.3 6p21-p22 11p15 9p1317q22 2p16.1 16p12 17q22 16p13.3 17q22 16p13
- Ataxia-telangiectasia — 1/30.000-100.000 — ATM — 11q22.3
- Bloom Syndrome — Rare — RECQL3 15q26.1
- Chediak-Higashi Syndrome — Rare — LYST 1q42.1-q42.2
- Rothmund-Thomson Syndrome — Rare — RECQL4 8q24.3
- Werner Syndrome — 1/500.000 — RECQL2 8p12-p1.2
- Xeroderma pigmentosum — 1/250.000-1.000.000 — XPA
XPC
DDB2
y otros 9q22.3 3p25 11p11-p12
In these families, the descendants of a carrier of the mutation have a 50% probability of inheriting the altered gene; whether or not they will develop cancer during their lifetime is a more complex issue, and depends on the nature of the inherited gene and/or whether the other parent is also a carrier of the mutation.
D. Other entities with predisposition to cancer
Pathology — Incidence — Gene — Locus
- Esophageal cancer with palmoplantar tylosis — Unknown
- Hereditary diffuse gastric cancer — Rare CDH1 — 16q22.1
- Familial nonmedullary thyroid carcinoma — Unknown
- Familial prostate carcinoma — Unknown
- Familial renal cell carcinoma (clear cell)r — Unknown — 3p?
- Familial papillary renal carcinoma — Rare — MET — 7q31
- Carney complex — Unknown — PRKRA1A — 17q23-q24
- Congenital dyskeratosis — Unknown — DKC1 — Xq28
- X-linked lymphoproliferative Syndrome or Duncan disease — Unknown — SH2D1A — Xq25
- Sotos Syndrome — Rare — NSD1 — 5q35
- Currarino Syndrome — Unknown — HLXB9 — 7q36
In these families, the descendants of a carrier of the mutation have a 50% probability of inheriting the altered gene; whether they will develop cancer during their lifetime depends on the inheritance model.