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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.

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